Publications

Abstract

Little is known about the genetic contribution to individual differences in neural networks subserving cognition function. In this functional magnetic resonance imaging (fMRI) twin study, we found a significant genetic influence on brain activation in neural networks supporting digit working memory tasks. Participants activating frontal-parietal networks responded faster than individuals relying more on language-related brain networks.There were genetic influences on brain activation in language-relevant brain circuits that were atypical for numerical working memory tasks as such. This suggests that differences in cognition might be related to brain activation patterns that differ qualitatively among individuals.

Abstract

While the distribution of RNA polymerase II (PolII) in a variety of complex genomes is correlated with gene expression, the presence of PolII at a gene does not necessarily indicate active expression. Various patterns of PolII binding have been described genome wide; however, whether or not PolII binds at transcriptionally inactive sites remains uncertain. The two X chromosomes in female cells in mammals present an opportunity to examine each of the two alleles of a given locus in both active and inactive states, depending on which X chromosome is silenced by X chromosome inactivation. Here, we investigated PolII occupancy and expression of the associated genes across the active (Xa) and inactive (Xi) X chromosomes in human female cells to elucidate the relationship of gene expression and PolII binding. We find that, while PolII in the pseudoautosomal region occupies both chromosomes at similar levels, it is significantly biased toward the Xa throughout the rest of the chromosome. The general paucity of PolII on the Xi notwithstanding, detectable (albeit significantly reduced) binding can be observed, especially on the evolutionarily younger short arm of the X. PolII levels at genes that escape inactivation correlate with the levels of their expression; however, additional PolII sites can be found at apparently silenced regions, suggesting the possibility of a subset of genes on the Xi that are poised for expression. Consistent with this hypothesis, we show that a high proportion of genes associated with PolII-accessible sites, while silenced in GM12878, are expressed in other female cell lines.

Abstract

As in the case of other non-English languages, the study of the acquisition of Turkish has mostly focused on aspects of grammatical morphology and syntax, largely neglecting the study of the effect of interactional factors on child morphosyntax. This paper reviews indications from past research that studying input and adult-child discourse can facilitate the study of the acquisition of morphosyntax in the Turkish language. It also provides some recent studies of Turkish child language on the relationship of child-directed speech to the early acquisition of morphosyntax, and on the pragmatic features of a certain kind of discourse form in child-directed speech called variation sets.

Abstract

Heterozygous mutations of the human FOXP2 gene cause a developmental disorder involving impaired learning and production of fluent spoken language. Previous investigations of its aetiology have focused on disturbed function of neural circuits involved in motor control. However, Foxp2 expression has been found in the cochlea and auditory brain centers and deficits in auditory processing could contribute to difficulties in speech learning and production. Here, we recorded auditory brainstem responses (ABR) to assess two heterozygous mouse models carrying distinct Foxp2 point mutations matching those found in humans with FOXP2-related speech/language impairment. Mice which carry a Foxp2-S321X nonsense mutation, yielding reduced dosage of Foxp2 protein, did not show systematic ABR differences from wildtype littermates. Given that speech/language disorders are observed in heterozygous humans with similar nonsense mutations (FOXP2-R328X), our findings suggest that auditory processing deficits up to the midbrain level are not causative for FOXP2-related language impairments. Interestingly, however, mice harboring a Foxp2-R552H missense mutation displayed systematic alterations in ABR waves with longer latencies (significant for waves I, III, IV) and smaller amplitudes (significant for waves I, IV) suggesting that either the synchrony of synaptic transmission in the cochlea and in auditory brainstem centers is affected, or fewer auditory nerve fibers and fewer neurons in auditory brainstem centers are activated compared to wildtypes. Therefore, the R552H mutation uncovers possible roles for Foxp2 in the development and/or function of the auditory system. Since ABR audiometry is easily accessible in humans, our data call for systematic testing of auditory functions in humans with FOXP2 mutations.

Abstract

This study investigates the prosodic conditioning of phonetic details which are candidate cues to phonological contrasts. German /b, d, g, p, t, k/ were examined in three prosodic positions. Lenis plosives /b, d, g/ were produced with less glottal vibration at larger prosodic boundaries, whereas their VOT showed no effect of prosody. VOT of fortis plosives /p, t, k/ decreased at larger boundaries, as did their burst intensity maximum. Vowels (when measured from consonantal release) following fortis plosives and lenis velars were shorter after larger boundaries. Closure duration, which did not contribute to the fortis/lenis contrast, was heavily affected by prosody. These results support neither of the hitherto proposed accounts of prosodic strengthening (Uniform Strengthening and Feature Enhancement). We propose a different account, stating that the phonological identity of speech sounds remains stable not only within, but also across prosodic positions (contrast-over-prosody hypothesis). Domain-initial strengthening hardly diminishes the contrast between prosodically weak fortis and strong lenis plosives.

Abstract

Phase-locked evoked responses and event-related modulations of spontaneous rhythmic activity are the two main approaches used to quantify stimulus- or task-related changes in electrophysiological measures. The relationship between the two has beenwidely theorized upon but empirical research has been limited to the primary visual and sensorimotor cortex. However, both evoked responses and rhythms have been used as markers of neural activity in paradigms ranging from simple sensory to complex cognitive tasks.While some spatial agreement between the two phenomena has been observed, typically only one of the measures has been used in any given study, thus disallowing a direct evaluation of their exact spatiotemporal relationship. In this study, we sought to systematically clarify the connection between evoked responses and rhythmic activity. Using both measures, we identified the spatiotemporal patterns of task effects in three magnetoencephalography (MEG) data sets, all variants of a picture naming task. Evoked responses and rhythmic modulation yielded largely separate networks, with spatial overlap mainly in the sensorimotor and primary visual areas.Moreover, in the cortical regions thatwere identified with both measures the experimental effects they conveyed differed in terms of timing and function. Our results suggest that the two phenomena are largely detached and that both measures are needed for an accurate portrayal of brain activity.

Abstract

The Neolithic is a key period in the history of the European settlement. Although archaeological and present-day genetic data suggest several hypotheses regarding the human migration patterns at this period, validation of these hypotheses with the use of ancient genetic data has been limited. In this context, we studied DNA extracted from 53 individuals buried in a necropolis used by a French local community 5,000 y ago. The relatively good DNA preservation of the samples allowed us to obtain autosomal, Y-chromosomal, and/or mtDNA data for 29 of the 53 samples studied. From these datasets, we established close parental relationships within the necropolis and determined maternal and paternal lineages as well as the absence of an allele associated with lactase persistence, probably carried by Neolithic cultures of central Europe. Our study provides an integrative view of the genetic past in southern France at the end of the Neolithic period. Furthermore, the Y-haplotype lineages characterized and the study of their current repartition in European populations confirm a greater influence of the Mediterranean than the Central European route in the peopling of southern Europe during the Neolithic transition.

Abstract

The impact of the Neolithic dispersal on the western European populations is subject to continuing debate. To trace and date genetic lineages potentially brought during this transition and so understand the origin of the gene pool of current populations, we studied DNA extracted from human remains excavated in a Spanish funeral cave dating from the beginning of the fifth millennium B.C. Thanks to a “multimarkers” approach based on the analysis of mitochondrial and nuclear DNA (autosomes and Y-chromosome), we obtained information on the early Neolithic funeral practices and on the biogeographical origin of the inhumed individuals. No close kinship was detected. Maternal haplogroups found are consistent with pre-Neolithic settlement, whereas the Y-chromosomal analyses permitted confirmation of the existence in Spain approximately 7,000 y ago of two haplogroups previously associated with the Neolithic transition: G2a and E1b1b1a1b. These results are highly consistent with those previously found in Neolithic individuals from French Late Neolithic individuals, indicating a surprising temporal genetic homogeneity in these groups. The high frequency of G2a in Neolithic samples in western Europe could suggest, furthermore, that the role of men during Neolithic dispersal could be greater than currently estimated.

Abstract

A theoretical debate in artificial grammar learning (AGL) regards the learnability of hierarchical structures. Recent studies using an AnBn grammar draw conflicting conclusions (Bahlmann and Friederici, 2006, De Vries et al., 2008). We argue that 2 conditions crucially affect learning AnBn structures: sufficient exposure to zero-level-of-embedding (0-LoE) exemplars and a staged-input. In 2 AGL experiments, learning was observed only when the training set was staged and contained 0-LoE exemplars. Our results might help understanding how natural complex structures are learned from exemplars.

Abstract

We present a coding system combined with an annotation tool for the analysis of gestural behavior. The NEUROGES coding system consists of three modules that progress from gesture kinetics to gesture function. Grounded on empirical neuropsychological and psychological studies, the theoretical assumption behind NEUROGES is that its main kinetic and functional movement categories are differentially associated with specific cognitive, emotional, and interactive functions. ELAN is a free, multimodal annotation tool for digital audio and video media. It supports multileveled transcription and complies with such standards as XML and Unicode. ELAN allows gesture categories to be stored with associated vocabularies that are reusable by means of template files. The combination of the NEUROGES coding system and the annotation tool ELAN creates an effective tool for empirical research on gestural behavior.

Abstract

The present study investigates hemispheric specialisation in the use of space in communicative gestures. For this purpose, we investigate split-brain patients in whom spontaneous and distinct right hand gestures can only be controlled by the left hemisphere and vice versa, the left hand only by the right hemisphere. On this anatomical basis, we can infer hemispheric specialisation from the performances of the right and left hands. In contrast to left hand dyspraxia in tasks that require language processing, split-brain patients utilise their left hands in a meaningful way in visuo-constructive tasks such as copying drawings or block-design. Therefore, we conjecture that split-brain patients are capable of using their left hands for the communication of the content of visuo-spatial animations via gestural demonstration. On this basis, we further examine the use of space in communicative gestures by the right and left hands. McNeill and Pedelty (1995) noted for the split-brain patient N.G. that her iconic right hand gestures were exclusively displayed in the right personal space. The present study investigates systematically if there is indication for neglect of the left personal space in right hand gestures in split-brain patients.

Abstract

The present study investigates hemispheric specialisation in the use of space in communicative gestures. For this purpose, we investigate split-brain patients in whom spontaneous and distinct right hand gestures can only be controlled by the left hemisphere and vice versa, the left hand only by the right hemisphere. On this anatomical basis, we can infer hemispheric specialisation from the performances of the right and left hands. In contrast to left hand dyspraxia in tasks that require language processing, split-brain patients utilise their left hands in a meaningful way in visuo-constructive tasks such as copying drawings or block-design. Therefore, we conjecture that split-brain patients are capable of using their left hands for the communication of the content of visuo-spatial animations via gestural demonstration. On this basis, we further examine the use of space in communicative gestures by the right and left hands. McNeill and Pedelty (1995) noted for the split-brain patient N.G. that her iconic right hand gestures were exclusively displayed in the right personal space. The present study investigates systematically if there is indication for neglect of the left personal space in right hand gestures in split-brain patients.

Abstract

Force-distance measurements have been used to examine differences in the interaction of the dendritic cell glycan-binding receptor DC-SIGN and the closely related endothelial cell receptor DC-SIGNR (L-SIGN) with membranes bearing glycan ligands. The results demonstrate that upon binding to membrane-anchored ligand, DC-SIGNR undergoes a conformational change similar to that previously observed for DC-SIGN. The results also validate a model for the extracellular domain of DC-SIGNR derived from crystallographic studies. Force measurements were performed with DC-SIGNR variants that differ in the length of the neck that result from genetic polymorphisms, which encode different numbers of the 23-amino acid repeat sequences that constitute the neck. The findings are consistent with an elongated, relatively rigid structure of the neck repeat observed in crystals. In addition, differences in the lengths of DC-SIGN and DC-SIGNR extracellular domains with equivalent numbers of neck repeats support a model in which the different dispositions of the carbohydrate-recognition domains in DC-SIGN and DC-SIGNR result from variations in the sequences of the necks.

Abstract

This commentary on Alario et al. (2002) addresses two issues: (1) Different from what the authors suggest, there are no theories of production claiming the phonological word to be the upper bound of advance planning before the onset of articulation; (2) Their picture naming study of word frequency effects on speech onset is inconclusive by lack of a crucial control, viz., of object recognition latency. This is a perennial problem in picture naming studies of word frequency and age of acquisition effects

Abstract

Review of S. Fillenbaum and A. Rapoport, Structures in the subjective lexicon

Abstract

Li and Gleitman (Turning the tables: language and spatial reasoning. Cognition, in press) seek to undermine a large-scale cross-cultural comparison of spatial language and cognition which claims to have demonstrated that language and conceptual coding in the spatial domain covary (see, for example, Space in language and cognition: explorations in linguistic diversity. Cambridge: Cambridge University Press, in press; Language 74 (1998) 557): the most plausible interpretation is that different languages induce distinct conceptual codings. Arguing against this, Li and Gleitman attempt to show that in an American student population they can obtain any of the relevant conceptual codings just by varying spatial cues, holding language constant. They then argue that our findings are better interpreted in terms of ecologically-induced distinct cognitive styles reflected in language. Linguistic coding, they argue, has no causal effects on non-linguistic thinking – it simply reflects antecedently existing conceptual distinctions. We here show that Li and Gleitman did not make a crucial distinction between frames of spatial reference relevant to our line of research. We report a series of experiments designed to show that they have, as a consequence, misinterpreted the results of their own experiments, which are in fact in line with our hypothesis. Their attempts to reinterpret the large cross-cultural study, and to enlist support from animal and infant studies, fail for the same reasons. We further try to discern exactly what theory drives their presumption that language can have no cognitive efficacy, and conclude that their position is undermined by a wide range of considerations.

Abstract

This short report draws attention to an interesting kind of configuration in the lexicon that seems to have escaped theoretical or systematic descriptive attention. These configurations, which we dub SEMPLATES, consist of an abstract structure or template, which is recurrently instantiated in a number of lexical sets, typically of different form classes. A number of examples from different language families are adduced, and generalizations made about the nature of semplates, which are contrasted to other, perhaps similar, phenomena

Abstract

Polish translation of Levinson, S. C. (1998). Studying spatial conceptualization across cultures: Anthropology and cognitive science. Ethos, 26(1), 7-24. doi:10.1525/eth.1998.26.1.7

Abstract

1. Introduction We claim that making sense of the typological diversity of languages demands a historical/evolutionary approach.We are pleased that the target paper (Dunn et al. 2011a) has served to bring discussion of this claim into prominence, and are grateful that leading typologists have taken the time to respond (commentaries denoted by boldface). It is unfortunate though that a number of the commentaries in this issue of LT show significant misunderstandings of our paper. Donohue thinks we were out to show the stability of typological features, but that was not our target at all (although related methods can be used to do that: see, e.g., Greenhill et al. 2010a, Dediu 2011a). Plank seems to think we were arguing against universals of any type, but our target was in fact just the implicational universals of word order that have been the bread and butter of typology. He also seems to think we ignore diachrony, whereas in fact the method introduces diachrony centrally into typological reasoning, thereby potentially revolutionising typology (see Cysouw’s commentary). Levy & Daumé think we were testing for lineage-specificity, whereas that was in fact an outcome (the main finding) of our testing for correlated evolution. Dryer thinks we must account for the distribution of language types around the world, but that was not our aim: our aim was to test the causal connection between linguistic variables by taking the perspective of language evolution (diversification and change). Longobardi & Roberts seem to think we set out to extract family trees from syntactic features, but our goal was in fact to use trees based on lexical cognates and hang reconstructed syntactic states on each node of these trees, thereby reconstructing the processes of language change.

Abstract

Most neuroimaging studies are performed using one imaging method only, either functional magnetic resonance imaging (fMRI), electroencephalography (EEG), or magnetoencephalography (MEG). Information on both location and timing has been sought by recording fMRI and EEG, simultaneously, or MEG and fMRI in separate sessions. Such approaches assume similar active areas whether detected via hemodynamic or electrophysiological signatures. Direct comparisons, after independent analysis of data from each imaging modality, have been conducted primarily on low-level sensory processing. Here, we report MEG (timing and location) and fMRI (location) results in 11 subjects when they named pictures that depicted an action or an object. The experimental design was exactly the same for the two imaging modalities. The MEG data were analyzed with two standard approaches: a set of equivalent current dipoles and a distributed minimum norm estimate. The fMRI blood-oxygenlevel dependent (BOLD) data were subjected to the usual random-effect contrast analysis. At the group level, MEG and fMRI data showed fairly good convergence, with both overall activation patterns and task effects localizing to comparable cortical regions. There were some systematic discrepancies, however, and the correspondence was less compelling in the individual subjects. The present analysis should be helpful in reconciling results of fMRI and MEG studies on high-level cognitive functions

Abstract

Educational tools claiming to use “right-brain techniques” are increasingly shaping school curricula. By implying a strong scientific basis, such approaches appeal to educators who rightly believe that knowledge of the brain should guide curriculum development. However, the notion of hemisphericity (idea that people are “left-brained” or “right-brained”) is a neuromyth that was debunked in the scientific literature 25 years ago. This article challenges the validity of “right-brain” teaching, highlighting the fact that neuroscientific research does not support its claims. Providing teachers with a basic understanding of neuroscience research as part of teacher training would enable more effective evaluation of brain-based claims and facilitate the adoption of tools validated by rigorous independent research rather than programs based on pseudoscience.

Abstract

Little is known about the origins of the pointing gesture. We sought to gain insight into its emergence by investigating individual differences in the pointing of 12-month-old infants in two ways. First, we looked at differences in the communicative and interactional uses of pointing and asked how different hand shapes relate to point frequency, accompanying vocalizations, and mothers’ pointing. Second, we looked at differences in social-cognitive skills of point comprehension and imitation and tested whether these were related to infants’ own pointing. Infants’ and mothers’ spontaneous pointing correlated with one another, as did infants’ point production and comprehension. In particular, infants’ index-finger pointing had a profile different from simple whole-hand pointing. It was more frequent, it was more often accompanied by vocalizations, and it correlated more strongly with comprehension of pointing (especially to occluded referents). We conclude that whole-hand and index-finger pointing differ qualitatively and suggest that it is index-finger pointing that first embodies infants’ understanding of communicative intentions.

Abstract

One of the defining features of human language is displacement, the ability to make reference to absent entities. Here we show that prelinguistic, 12-month-old infants already can use a nonverbal pointing gesture to make reference to absent entities. We also show that chimpanzees—who can point for things they want humans to give them—do not point to refer to absent entities in the same way. These results demonstrate that the ability to communicate about absent but mutually known entities depends not on language, but rather on deeper social-cognitive skills that make acts of linguistic reference possible in the first place. These nonlinguistic skills for displaced reference emerged apparently only after humans' divergence from great apes some 6 million years ago.

Abstract

Sociocultural theories of development posit that higher cognitive functions emerge through socially mediated processes, in particular through language. However, theories of human communication posit that language itself is based on higher social cognitive skills and cooperative motivations. Prelinguistic communication is a test case to this puzzle. In the current review, I first present recent and new findings of a research program on prelinguistic infants’ ommunication skills. This research provides empirical evidence for a rich social cognitive and motivational basis of human communication before language. Next, I discuss the emergence of these foundational skills. By considering all three lines of development, and by drawing on new findings from phylogenetic and cross-cultural comparisons, this article discusses the possibility that the cognitive foundations of prelinguistic communication are, in turn, mediated by social interactional input and shared experiences.

Abstract

A growing body of theoretical and empirical research has examined cultural transmission and adaptive cultural behaviour at the individual, within-group level. However, relatively few studies have tried to examine proximate transmission or test ultimate adaptive hypotheses about behavioural or cultural diversity at a between-societies macro-level. In both the history of anthropology and in present-day work, a common approach to examining adaptive behaviour at the macro-level has been through correlating various cultural traits with features of ecology. We discuss some difficulties with simple ecological associations, and then review cultural phylogenetic studies that have attempted to go beyond correlations to understand the underlying cultural evolutionary processes. We conclude with an example of a phylogenetically controlled approach to understanding proximate transmission pathways in Austronesian cultural diversity.

Abstract

The study investigated the neuronal basis of the retrieval of words from the mental lexicon. The semantic category interference effect was used to locate lexical retrieval processes in time and space. This effect reflects the finding that, for overt naming, volunteers are slower when naming pictures out of a sequence of items from the same semantic category than from different categories. Participants named pictures blockwise either in the context of same- or mixedcategory items while the brain response was registered using magnetoencephalography (MEG). Fifteen out of 20 participants showed longer response latencies in the same-category compared to the mixed-category condition. Event-related MEG signals for the participants demonstrating the interference effect were submitted to a current source density (CSD) analysis. As a new approach, a principal component analysis was applied to decompose the grand average CSD distribution into spatial subcomponents (factors). The spatial factor indicating left temporal activity revealed significantly different activation for the same-category compared to the mixedcategory condition in the time window between 150 and 225 msec post picture onset. These findings indicate a major involvement of the left temporal cortex in the semantic interference effect. As this effect has been shown to take place at the level of lexical selection, the data suggest that the left temporal cortex supports processes of lexical retrieval during production.

Abstract

Multiple social science disciplines have converged on the senses in recent years, where formerly the domain of perception was the preserve of psychology. Linguistics, or Language, however, seems to have an ambivalent role in this undertaking. On the one hand, Language with a capital L (language as a general human capacity) is part of the problem. It was the prior focus on language (text) that led to the disregard of the senses. On the other hand, it is language (with a small "l", a particular tongue) that offers key insights into how other peoples onceptualize the senses. In this article, we argue that a systematic cross-cultural approach can reveal fundamental truths about the precise connections between language and the senses. Recurring failures to adequately describe the sensorium across specific languages reveal the intrinsic limits of Language. But the converse does not hold. Failures of expressibility in one language need not hold any implications for the Language faculty per se, and indeed can enlighten us about the possible experiential worlds available to human experience.

Abstract

Cultures are built on social exchange. Most languages have dedicated grammatical machinery for expressing this. To demonstrate that statistical methods can also be applied to grammatical meaning, we here ask whether the underlying meanings of these grammatical constructions are based on shared common concepts. To explore this, we designed video stimuli of reciprocated actions (e.g. ‘giving to each other’) and symmetrical states (e.g. ‘sitting next to each other’), and with the help of a team of linguists collected responses from 20 languages around the world. Statistical analyses revealed that many languages do, in fact, share a common conceptual core for reciprocal meanings but that this is not a universally expressed concept. The recurrent pattern of conceptual packaging found across languages is compatible with the view that there is a shared non-linguistic understanding of reciprocation. But, nevertheless, there are considerable differences between languages in the exact extensional patterns, highlighting that even in the domain of grammar semantics is highly language-specific.

Abstract

In previous research it has been shown that subject relative clauses are easier to process than object relative clauses. Several theories have been proposed that explain the difference on the basis of different theoretical perspectives. However, previous research tested relative clauses only with animate protagonists. In a corpus study of Dutch and German newspaper texts, we show that animacy is an important determinant of the distribution of subject and object relative clauses. In two experiments in Dutch, in which the animacy of the object of the relative clause is varied, no difference in reading time is obtained between subject and object relative clauses when the object is inanimate. The experiments show that animacy influences the processing difficulty of relative clauses. These results can only be accounted for by current major theories of relative clause processing when additional assumptions are introduced, and at the same time show that the possibility of semantically driven analysis can be considered as a serious alternative.

Abstract

We describe a family-based sample of individuals with reading disability collected as part of a quantitative trait loci (QTL) mapping study. Eighty-nine nuclear families (135 independent sib-pairs) were identified through a single proband using a traditional discrepancy score of predicted/actual reading ability and a known family history. Eight correlated psychometric measures were administered to each sibling, including single word reading, spelling, similarities, matrices, spoonerisms, nonword and irregular word reading, and a pseudohomophone test. Summary statistics for each measure showed a reduced mean for the probands compared to the co-sibs, which in turn was lower than that of the population. This partial co-sib regression back to the mean indicates that the measures are influenced by familial factors and therefore, may be suitable for a mapping study. The variance of each of the measures remained largely unaffected, which is reassuring for the application of a QTL approach. Multivariate genetic analysis carried out to explore the relationship between the measures identified a common factor between the reading measures that accounted for 54% of the variance. Finally the familiality estimates (range 0.32–0.73) obtained for the reading measures including the common factor (0.68) supported their heritability. These findings demonstrate the viability of this sample for QTL mapping, and will assist in the interpretation of any subsequent linkage findings in an ongoing genome scan.

Abstract

Language comprehension requires recovering meaning from linguistic form, even when the mapping between the two is indirect. A canonical example is ellipsis, the omission of information that is subsequently understood without being overtly pronounced. Comprehension of ellipsis requires retrieval of an antecedent from memory, without prior prediction, a property which enables the study of retrieval in situ ( Martin and McElree, 2008 and Martin and McElree, 2009). Sluicing, or inflectional-phrase ellipsis, in the presence of a conjunction, presents a test case where a competing antecedent position is syntactically licensed, in contrast with most cases of nonadjacent dependency, including verb–phrase ellipsis. We present speed–accuracy tradeoff and eye-movement data inconsistent with the hypothesis that retrieval is accomplished via a syntactically guided search, a particular variant of search not examined in past research. The observed timecourse profiles are consistent with the hypothesis that antecedents are retrieved via a cue-dependent direct-access mechanism susceptible to general memory variables.

Abstract

Comprehension of verb-phrase ellipsis (VPE) requires reevaluation of recently processed constituents, which often necessitates retrieval of information about the elided constituent from memory. A. E. Martin and B. McElree (2008) argued that representations formed during comprehension are content addressable and that VPE antecedents are retrieved from memory via a cue-dependent direct-access pointer rather than via a search process. This hypothesis was further tested by manipulating the location of interfering material—either before the onset of the antecedent (proactive interference; PI) or intervening between antecedent and ellipsis site (retroactive interference; RI). The speed–accuracy tradeoff procedure was used to measure the time course of VPE processing. The location of the interfering material affected VPE comprehension accuracy: RI conditions engendered lower accuracy than PI conditions. Crucially, location did not affect the speed of processing VPE, which is inconsistent with both forward and backward search mechanisms. The observed time-course profiles are consistent with the hypothesis that VPE antecedents are retrieved via a cue-dependent direct-access operation. (PsycINFO Database Record (c) 2016 APA, all rights reserved)

Abstract

Understanding the lyrics of many contemporary songs is difficult, and an earlier study [Hidalgo-Barnes, M., Massaro, D.W., 2007. Read my lips: an animated face helps communicate musical lyrics. Psychomusicology 19, 3–12] showed a benefit for lyrics recognition when seeing a computer-animated talking head (Baldi) mouthing the lyrics along with hearing the singer. However, the contribution of visual information was relatively small compared to what is usually found for speech. In the current experiments, our goal was to determine why the face appears to contribute less when aligned with sung lyrics than when aligned with normal speech presented in noise. The first experiment compared the contribution of the talking head with the originally sung lyrics versus the case when it was aligned with the Festival text-to-speech synthesis (TtS) spoken at the original duration of the song’s lyrics. A small and similar influence of the face was found in both conditions. In the three experiments, we compared the presence of the face when the durations of the TtS were equated with the duration of the original musical lyrics to the case when the lyrics were read with typical TtS durations and this speech embedded in noise. The results indicated that the unusual temporally distorted durations of musical lyrics decreases the contribution of the visible speech from the face.

Abstract

Abstract Background: Archaeologists and anthropologists have long recognized that different cultural complexes may have distinct descent histories, but they have lacked analytical techniques capable of easily identifying such incongruence. Here, we show how Bayesian phylogenetic analysis can be used to identify incongruent cultural histories. We employ the approach to investigate Iranian tribal textile traditions. Methods: We used Bayes factor comparisons in a phylogenetic framework to test two models of cultural evolution: the hierarchically integrated system hypothesis and the multiple coherent units hypothesis. In the hierarchically integrated system hypothesis, a core tradition of characters evolves through descent with modification and characters peripheral to the core are exchanged among contemporaneous populations. In the multiple coherent units hypothesis, a core tradition does not exist. Rather, there are several cultural units consisting of sets of characters that have different histories of descent. Results: For the Iranian textiles, the Bayesian phylogenetic analyses supported the multiple coherent units hypothesis over the hierarchically integrated system hypothesis. Our analyses suggest that pile-weave designs represent a distinct cultural unit that has a different phylogenetic history compared to other textile characters. Conclusions: The results from the Iranian textiles are consistent with the available ethnographic evidence, which suggests that the commercial rug market has influenced pile-rug designs but not the techniques or designs incorporated in the other textiles produced by the tribes. We anticipate that Bayesian phylogenetic tests for inferring cultural units will be of great value for researchers interested in studying the evolution of cultural traits including language, behavior, and material culture.

Abstract

Two eye-monitoring studies examined when unexpressed schematic participant information specified by verbs is used during sentence processing. Experiment 1 compared the processing of sentences with passive and intransitive verbs hypothesized to introduce or not introduce, respectively, an agent when their main clauses were preceded by either agent-dependent rationale clauses or adverbial clause controls. While there were no differences in the processing of passive clauses following rationale and control clauses, intransitive verb clauses elicited anomaly effects following agent-dependent rationale clauses. To determine whether the source of this immediately available schematic participant information is lexically specified or instead derived solely from conceptual sources associated with verbs, Experiment 2 compared the processing of clauses with passive and middle verbs following rationale clauses (e.g., To raise money for the charity, the vase was/had sold quickly…). Although both passive and middle verb forms denote situations that logically require an agent, middle verbs, which by hypothesis do not lexically specify an agent, elicited longer processing times than passive verbs in measures of early processing. These results demonstrate that participants access and interpret lexically encoded schematic participant information in the process of recognizing a verb.

Abstract

This study investigated links between working memory and speech processing systems. We used delayed pseudoword repetition in fMRI to investigate the neural correlates of sublexical structure in phonological working memory (pWM). We orthogonally varied the number of syllables and consonant clusters in auditory pseudowords and measured the neural responses to these manipulations under conditions of covert rehearsal (Experiment 1). A left-dominant network of temporal and motor cortex showed increased activity for longer items, with motor cortex only showing greater activity concomitant with adding consonant clusters. An individual-differences analysis revealed a significant positive relationship between activity in the angular gyrus and the hippocampus, and accuracy on pseudoword repetition. As models of pWM stipulate that its neural correlates should be activated during both perception and production/rehearsal [Buchsbaum, B. R., & D'Esposito, M. The search for the phonological store: From loop to convolution. Journal of Cognitive Neuroscience, 20, 762-778, 2008; Jacquemot, C., & Scott, S. K. What is the relationship between phonological short-term memory and speech processing? Trends in Cognitive Sciences, 10, 480-486, 2006; Baddeley, A. D., & Hitch, G. Working memory. In G. H. Bower (Ed.), The psychology of learning and motivation: Advances in research and theory (Vol. 8, pp. 47-89). New York: Academic Press, 1974], we further assessed the effects of the two factors in a separate passive listening experiment (Experiment 2). In this experiment, the effect of the number of syllables was concentrated in posterior-medial regions of the supratemporal plane bilaterally, although there was no evidence of a significant response to added clusters. Taken together, the results identify the planum temporale as a key region in pWM; within this region, representations are likely to take the form of auditory or audiomotor -templates- or -chunks- at the level of the syllable [Papoutsi, M., de Zwart, J. A., Jansma, J. M., Pickering, M. J., Bednar, J. A., & Horwitz, B. From phonemes to articulatory codes: an fMRI study of the role of Broca's area in speech production. Cerebral Cortex, 19, 2156-2165, 2009; Warren, J. E., Wise, R. J. S., & Warren, J. D. Sounds do-able: auditory-motor transformations and the posterior temporal plane. Trends in Neurosciences, 28, 636-643, 2005; Griffiths, T. D., & Warren, J. D. The planum temporale as a computational hub. Trends in Neurosciences, 25, 348-353, 2002], whereas more lateral structures on the STG may deal with phonetic analysis of the auditory input [Hickok, G. The functional neuroanatomy of language. Physics of Life Reviews, 6, 121-143, 2009].

Abstract

The strongest support for feedback in speech perception comes from evidence of apparent lexical influence on prelexical fricative-stop compensation for coarticulation. Lexical knowledge (e.g., that the ambiguous final fricative of Christma? should be [s]) apparently influences perception of following stops. We argue that all such previous demonstrations can be explained without invoking lexical feedback. In particular, we show that one demonstration [Magnuson, J. S., McMurray, B., Tanenhaus, M. K., & Aslin, R. N. (2003). Lexical effects on compensation for coarticulation: The ghost of Christmash past. Cognitive Science, 27, 285–298] involved experimentally-induced biases (from 16 practice trials) rather than feedback. We found that the direction of the compensation effect depended on whether practice stimuli were words or nonwords. When both were used, there was no lexically-mediated compensation. Across experiments, however, there were lexical effects on fricative identification. This dissociation (lexical involvement in the fricative decisions but not in the following stop decisions made on the same trials) challenges interactive models in which feedback should cause both effects. We conclude that the prelexical level is sensitive to experimentally-induced phoneme-sequence biases, but that there is no feedback during speech perception.

Abstract

BACKGROUND: Human and animal prion diseases are under genetic control, but apart from PRNP (the gene that encodes the prion protein), we understand little about human susceptibility to bovine spongiform encephalopathy (BSE) prions, the causal agent of variant Creutzfeldt-Jakob disease (vCJD).METHODS: We did a genome-wide association study of the risk of vCJD and tested for replication of our findings in samples from many categories of human prion disease (929 samples) and control samples from the UK and Papua New Guinea (4254 samples), including controls in the UK who were genotyped by the Wellcome Trust Case Control Consortium. We also did follow-up analyses of the genetic control of the clinical phenotype of prion disease and analysed candidate gene expression in a mouse cellular model of prion infection. FINDINGS: The PRNP locus was strongly associated with risk across several markers and all categories of prion disease (best single SNP [single nucleotide polymorphism] association in vCJD p=2.5 x 10(-17); best haplotypic association in vCJD p=1 x 10(-24)). Although the main contribution to disease risk was conferred by PRNP polymorphic codon 129, another nearby SNP conferred increased risk of vCJD. In addition to PRNP, one technically validated SNP association upstream of RARB (the gene that encodes retinoic acid receptor beta) had nominal genome-wide significance (p=1.9 x 10(-7)). A similar association was found in a small sample of patients with iatrogenic CJD (p=0.030) but not in patients with sporadic CJD (sCJD) or kuru. In cultured cells, retinoic acid regulates the expression of the prion protein. We found an association with acquired prion disease, including vCJD (p=5.6 x 10(-5)), kuru incubation time (p=0.017), and resistance to kuru (p=2.5 x 10(-4)), in a region upstream of STMN2 (the gene that encodes SCG10). The risk genotype was not associated with sCJD but conferred an earlier age of onset. Furthermore, expression of Stmn2 was reduced 30-fold post-infection in a mouse cellular model of prion disease. INTERPRETATION: The polymorphic codon 129 of PRNP was the main genetic risk factor for vCJD; however, additional candidate loci have been identified, which justifies functional analyses of these biological pathways in prion disease.

Abstract

Argues that the Seneca accent system can be explained more simply and naturally if the foot structure is reanalyzed as trochaic. Determination of the position of the accent by the position and structure of the accented syllable and by the position and structure of the post-tonic syllable; Assignment of the pair of syllables which interact to predict where accent is assigned in different iambic feet.

Abstract

Whether the brain’s speech-production system is also involved in speech comprehension is a topic of much debate. Research has focused on whether motor areas are involved in listening, but overlap between speaking and listening might occur not only at primary sensory and motor levels, but also at linguistic levels (where semantic, lexical, and syntactic processes occur). Using functional MRI adaptation during speech comprehension and production, we found that the brain areas involved in semantic, lexical, and syntactic processing are mostly the same for speaking and for listening. Effects of primary processing load (indicative of sensory and motor processes) overlapped in auditory cortex and left inferior frontal cortex, but not in motor cortex, where processing load affected activity only in speaking. These results indicate that the linguistic parts of the language system are used for both speaking and listening, but that the motor system does not seem to provide a crucial contribution to listening.

Abstract

Both local discourse and world knowledge are known to influence sentence processing. We investigated how these two sources of information conspire in language comprehension. Two types of critical sentences, correct and world knowledge anomalies, were preceded by either a neutral or a local context. The latter made the world knowledge anomalies more acceptable or plausible. We predicted that the effect of world knowledge anomalies would be weaker for the local context. World knowledge effects have previously been observed in the left inferior frontal region (Brodmann's area 45/47). In the current study, an effect of world knowledge was present in this region in the neutral context. We also observed an effect in the right inferior frontal gyrus, which was more sensitive to the discourse manipulation than the left inferior frontal gyrus. In addition, the left angular gyrus reacted strongly to the degree of discourse coherence between the context and critical sentence. Overall, both world knowledge and the discourse context affect the process of meaning unification, but do so by recruiting partly different sets of brain areas.

Abstract

The dendritic cell receptor DC-SIGN mediates pathogen recognition by binding to glycans characteristic of pathogen surfaces, including those found on HIV. Clustering of carbohydrate-binding sites in the receptor tetramer is believed to be critical for targeting of pathogen glycans, but the arrangement of these sites remains poorly understood. Surface force measurements between apposed lipid bilayers displaying the extracellular domain of DC-SIGN and a neoglycolipid bearing an oligosaccharide ligand provide evidence that the receptor is in an extended conformation and that glycan docking is associated with a conformational change that repositions the carbohydrate-recognition domains during ligand binding. The results further show that the lateral mobility of membrane-bound ligands enhances the engagement of multiple carbohydrate-recognition domains in the receptor oligomer with appropriately spaced ligands. These studies highlight differences between pathogen targeting by DC-SIGN and receptors in which binding sites at fixed spacing bind to simple molecular patterns

Abstract

PTEN Hamartoma Tumour Syndrome (PHTS) includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), and other conditions resulting from germline mutation of the PTEN tumour suppressor gene. Although macrocephaly, presumably due to megencephaly, is found in both CS and BRRS, the prevalence and degree have not been formally assessed in PHTS. We evaluated head size in a prospective nested series of 181 patients found to have pathogenic germline PTEN mutations. Clinical data including occipital-frontal circumference (OFC) measurement were requested for all participants. Macrocephaly was present in 94% of 161 evaluable PHTS individuals. In patients ≤18 years, mean OFC was +4.89 standard deviations (SD) above the population mean with no difference between genders (P=0.7). Among patients >18 years, average OFC was 60.0 cm in females and 62.8 cm in males (P<0.0001). To systematically determine whether macrocephaly was due to megencephaly, we examined PtenM3M4 missense mutant mice generated and maintained on mixed backgrounds. Mice were killed at various ages, brains were dissected out and weighed. Average brain weight for PtenM3M4 homozygous mice (N=15) was 1.02 g compared with 0.57 g for heterozygous mice (N=29) and 0.49 g for wild-type littermates (N=24) (P<0.0001). Macrocephaly, secondary to megencephaly, is an important component of PHTS and more prevalent than previously appreciated. Patients with PHTS have increased risks for breast and thyroid cancers, and early diagnosis is key to initiating timely screening to reduce patient morbidity and mortality. Clinicians should consider germline PTEN testing at an early point in the diagnostic work-up for patients with extreme macrocephaly.

Abstract

Past studies have found that, in adults, the acoustic properties of sound signals (such as fast versus slow temporal features) differentially activate the left and right hemispheres, and some have hypothesized that left-lateralization for speech processing may follow from left-lateralization to rapidly changing signals. Here, we tested whether newborns’ brains show some evidence of signal-specific lateralization responses using near-infrared spectroscopy (NIRS) and auditory stimuli that elicits lateralized responses in adults, composed of segments that vary in duration and spectral diversity. We found significantly greater bilateral responses of oxygenated hemoglobin (oxy-Hb) in the temporal areas for stimuli with a minimum segment duration of 21 ms, than stimuli with a minimum segment duration of 667 ms. However, we found no evidence for hemispheric asymmetries dependent on the stimulus characteristics. We hypothesize that acoustic-based functional brain asymmetries may develop throughout early infancy, and discuss their possible relationship with brain asymmetries for language.

Abstract

During the past ten years, research using Near-infrared Spectroscopy (NIRS) to study the developing brain has provided groundbreaking evidence of brain functions in infants. This paper presents a theoretically oriented review of this wealth of evidence, summarizing recent NIRS data on language processing, without neglecting other neuroimaging or behavioral studies in infancy and adulthood. We review three competing classes of hypotheses (i.e. signal-driven, domain-driven, and learning biases hypotheses) regarding the causes of hemispheric specialization for speech processing. We assess the fit between each of these hypotheses and neuroimaging evidence in speech perception and show that none of the three hypotheses can account for the entire set of observations on its own. However, we argue that they provide a good fit when combined within a developmental perspective. According to our proposed scenario, lateralization for language emerges out of the interaction between pre-existing left–right biases in generic auditory processing (signal-driven hypothesis), and a left-hemisphere predominance of particular learning mechanisms (learning-biases hypothesis). As a result of this completed developmental process, the native language is represented in the left hemisphere predominantly. The integrated scenario enables to link infant and adult data, and points to many empirical avenues that need to be explored more systematically.

Abstract

Understanding foreign speech is difficult, in part because of unusual mappings between sounds and words. It is known that listeners in their native language can use lexical knowledge (about how words ought to sound) to learn how to interpret unusual speech-sounds. We therefore investigated whether subtitles, which provide lexical information, support perceptual learning about foreign speech. Dutch participants, unfamiliar with Scottish and Australian regional accents of English, watched Scottish or Australian English videos with Dutch, English or no subtitles, and then repeated audio fragments of both accents. Repetition of novel fragments was worse after Dutch-subtitle exposure but better after English-subtitle exposure. Native-language subtitles appear to create lexical interference, but foreign-language subtitles assist speech learning by indicating which words (and hence sounds) are being spoken.

Abstract

There is a growing consensus that the mental lexicon contains both abstract and word-specific acoustic information. To investigate their relative importance for word recognition, we tested to what extent perceptual learning is word specific or generalizable to other words. In an exposure phase, participants were divided into two groups; each group was semantically biased to interpret an ambiguous Mandarin tone contour as either tone1 or tone2. In a subsequent test phase, the perception of ambiguous contours was dependent on the exposure phase: Participants who heard ambiguous contours as tone1 during exposure were more likely to perceive ambiguous contours as tone1 than participants who heard ambiguous contours as tone2 during exposure. This learning effect was only slightly larger for previously encountered than for not previously encountered words. The results speak for an architecture with prelexical analysis of phonological categories to achieve both lexical access and episodic storage of exemplars.

Abstract

Two experiments examined how Dutch listeners deal with the effects of connected-speech processes, specifically those arising from word-final /t/ reduction (e.g., whether Dutch [tas] is tas, bag, or a reduced-/t/ version of tast, touch). Eye movements of Dutch participants were tracked as they looked at arrays containing 4 printed words, each associated with a geometrical shape. Minimal pairs (e.g., tas/tast) were either both above (boven) or both next to (naast) different shapes. Spoken instructions (e.g., “Klik op het woordje tas boven de ster,” [Click on the word bag above the star]) thus became unambiguous only on their final words. Prior to disambiguation, listeners' fixations were drawn to /t/-final words more when boven than when naast followed the ambiguous sequences. This behavior reflects Dutch speech-production data: /t/ is reduced more before /b/ than before /n/. We thus argue that probabilistic knowledge about the effect of following context in speech production is used prelexically in perception to help resolve lexical ambiguities caused by continuous-speech processes.

Abstract

Recognizing phonetically reduced forms is a huge challenge for spoken-word recognition. Phonetic reductions not only occur often, but also come in a variety of forms. The paper investigates how two similar forms of reductions – /t/-reduction and nasal place assimilation in Dutch – can eventually be recognized, focusing on the role of following phonological context. Previous research indicated that listeners take the following phonological context into account when compensating for /t/-reduction and nasal place assimilation. The current paper shows that these context effects arise in early perceptual processes for the perception of assimilated forms, but at a later stage of processing for the perception of /t/-reduced forms. This shows first that the recognition of apparently similarly reduced words may rely on different processing mechanisms and, second, that searching for dissociations over tasks is a promising research strategy to investigate how reduced forms are recognized.

Abstract

World knowledge influences how we perceive the world. This study shows that this influence is at least partly mediated by declarative memory. Dutch and German participants categorized hues from a yellow-to-orange continuum on stimuli that were prototypically orange or yellow and that were also associated with these color labels. Both groups gave more “yellow” responses if an ambiguous hue occurred on a prototypically yellow stimulus. The language groups were also tested on a stimulus (traffic light) that is associated with the label orange in Dutch and with the label yellow in German, even though the objective color is the same for both populations. Dutch observers categorized this stimulus as orange more often than German observers, in line with the assumption that declarative knowledge mediates the influence of world knowledge on color categorization.

Abstract

Four visual-world experiments, in which listeners heard spoken words and saw printed words, compared an optimal-perception account with the theory of phonological underspecification. This theory argues that default phonological features are not specified in the mental lexicon, leading to asymmetric lexical matching: Mismatching input ("pin") activates lexical entries with underspecified coronal stops ('tin'), but lexical entries with specified labial stops ('pin') are not activated by mismatching input ("tin"). The eye-tracking data failed to show such a pattern. Although words that were phonologically similar to the spoken target attracted more looks than unrelated distractors, this effect was symmetric in Experiment 1 with minimal pairs ("tin"- "pin") and in Experiments 2 and 3 with words with an onset overlap ("peacock" - "teacake"). Experiment 4 revealed that /t/-initial words were looked at more frequently if the spoken input mismatched only in terms of place than if it mismatched in place and voice, contrary to the assumption that /t/ is unspecified for place and voice. These results show that speech perception uses signal-driven information to the fullest, as predicted by an optimal perception account.

Abstract

This study assessed, in a sample of 98 adult native speakers of Dutch, how their lexical skills and their speaking proficiency varied as a function of their age and level of education and profession (EP). Participants, categorized in terms of their age (18–35, 36–50, and 51–76 years old) and the level of their EP (low versus high), were tested on their lexical knowledge, lexical fluency, and lexical memory, and they performed four speaking tasks, differing in genre and formality. Speaking performance was rated in terms of communicative adequacy and in terms of number of words, number of T-units, words per T-unit, content words per T-unit, hesitations per T-unit, and grammatical errors per T-unit. Increasing age affected lexical knowledge positively but lexical fluency and memory negatively. High EP positively affected lexical knowledge and memory but EP did not affect lexical fluency. Communicative adequacy of the responses in the speaking tasks was positively affected by high EP but was not affected by age. It is concluded that, given the large variability in native speakers’ language knowledge and skills, studies investigating the question of whether second-language learners can reach native levels of proficiency, should take native-speaker variability into account.

Abstract

INTRODUCTION: Smoking behaviors, including heaviness of smoking and smoking cessation, are known to be under a degree of genetic influence. The enzyme catechol O-methyltransferase (COMT) is of relevance in studies of smoking behavior and smoking cessation due to its presence in dopaminergic brain regions. While the COMT gene is therefore one of the more promising candidate genes for smoking behavior, some inconsistencies have begun to emerge. METHODS: We explored whether the rs4680 A (Met) allele of the COMT gene predicts increased heaviness of smoking and reduced likelihood of smoking cessation in a large population-based cohort of pregnant women. We further conducted a meta-analysis of published data from community samples investigating the association of this polymorphism with heaviness of smoking and smoking status. RESULTS: In our primary sample, the A (Met) allele was associated with increased heaviness of smoking before pregnancy but not with the odds of continuing to smoke in pregnancy either in the first trimester or in the third trimester. Meta-analysis also indicated modest evidence of association of the A (Met) allele with increased heaviness of smoking but not with persistent smoking. CONCLUSIONS: Our data suggest a weak association between COMT genotype and heaviness of smoking, which is supported by our meta-analysis. However, it should be noted that the strength of evidence for this association was modest. Neither our primary data nor our meta-analysis support an association between COMT genotype and smoking cessation. Therefore, COMT remains a plausible candidate gene for smoking behavior phenotypes, in particular, heaviness of smoking.

Abstract

We investigate how Tamil- and Dutch-speaking adults and 4- to 5-year-old children use caused posture verbs (‘lay/stand a bottle on a table’) to label placement events in which objects are oriented vertically or horizontally. Tamil caused posture verbs consist of morphemes that individually label the causal and result subevents (nikka veyyii ‘make stand’; paDka veyyii ‘make lie’), occurring in situational and discourse contexts where object orientation is at issue. Dutch caused posture verbs are less semantically transparent: they are monomorphemic (zetten ‘set/stand’; leggen ‘lay’), often occurring in contexts where factors other than object orientation determine use. Caused posture verbs occur rarely in corpora of Tamil input, whereas in Dutch input, they are used frequently. Elicited production data reveal that Tamil four-year-olds use infrequent placement verbs appropriately whereas Dutch children use high-frequency placement verbs inappropriately even at age five. Semantic transparency exerts a stronger influence than input frequency in constraining children’s verb meaning acquisition.

Abstract

We report a genome-wide assessment of single nucleotide polymorphisms (SNPs) and copy number variants (CNVs) in schizophrenia. We investigated SNPs using 871 patients and 863 controls, following up the top hits in four independent cohorts comprising 1,460 patients and 12,995 controls, all of European origin. We found no genome-wide significant associations, nor could we provide support for any previously reported candidate gene or genome-wide associations. We went on to examine CNVs using a subset of 1,013 cases and 1,084 controls of European ancestry, and a further set of 60 cases and 64 controls of African ancestry. We found that eight cases and zero controls carried deletions greater than 2 Mb, of which two, at 8p22 and 16p13.11-p12.4, are newly reported here. A further evaluation of 1,378 controls identified no deletions greater than 2 Mb, suggesting a high prior probability of disease involvement when such deletions are observed in cases. We also provide further evidence for some smaller, previously reported, schizophrenia-associated CNVs, such as those in NRXN1 and APBA2. We could not provide strong support for the hypothesis that schizophrenia patients have a significantly greater “load” of large (>100 kb), rare CNVs, nor could we find common CNVs that associate with schizophrenia. Finally, we did not provide support for the suggestion that schizophrenia-associated CNVs may preferentially disrupt genes in neurodevelopmental pathways. Collectively, these analyses provide the first integrated study of SNPs and CNVs in schizophrenia and support the emerging view that rare deleterious variants may be more important in schizophrenia predisposition than common polymorphisms. While our analyses do not suggest that implicated CNVs impinge on particular key pathways, we do support the contribution of specific genomic regions in schizophrenia, presumably due to recurrent mutation. On balance, these data suggest that very few schizophrenia patients share identical genomic causation, potentially complicating efforts to personalize treatment regimens.

Abstract

Approximately 4% of English-speaking children are affected by specific language impairment (SLI), a disorder in the development of language skills despite adequate opportunity and normal intelligence. Several studies have indicated the importance of genetic factors in SLI; a positive family history confers an increased risk of development, and concordance in monozygotic twins consistently exceeds that in dizygotic twins. However, like many behavioral traits, SLI is assumed to be genetically complex, with several loci contributing to the overall risk. We have compiled 98 families drawn from epidemiological and clinical populations, all with probands whose standard language scores fall ⩾1.5 SD below the mean for their age. Systematic genomewide quantitative-trait–locus analysis of three language-related measures (i.e., the Clinical Evaluation of Language Fundamentals–Revised [CELF-R] receptive and expressive scales and the nonword repetition [NWR] test) yielded two regions, one on chromosome 16 and one on 19, that both had maximum LOD scores of 3.55. Simulations suggest that, of these two multipoint results, the NWR linkage to chromosome 16q is the most significant, with empirical P values reaching 10−5, under both Haseman-Elston (HE) analysis (LOD score 3.55; P=.00003) and variance-components (VC) analysis (LOD score 2.57; P=.00008). Single-point analyses provided further support for involvement of this locus, with three markers, under the peak of linkage, yielding LOD scores >1.9. The 19q locus was linked to the CELF-R expressive-language score and exceeds the threshold for suggestive linkage under all types of analysis performed—multipoint HE analysis (LOD score 3.55; empirical P=.00004) and VC (LOD score 2.84; empirical P=.00027) and single-point HE analysis (LOD score 2.49) and VC (LOD score 2.22). Furthermore, both the clinical and epidemiological samples showed independent evidence of linkage on both chromosome 16q and chromosome 19q, indicating that these may represent universally important loci in SLI and, thus, general risk factors for language impairment.

Abstract

Specific language impairment (SLI) is a common developmental disorder haracterized by difficulties in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors. We performed a high-density screen of SLI1, a region of chromosome 16q that shows highly significant and consistent linkage to nonword repetition, a measure of phonological short-term memory that is commonly impaired in SLI. Using two independent language-impaired samples, one family-based (211 families) and another selected from a population cohort on the basis of extreme language measures (490 cases), we detected association to two genes in the SLI1 region: that encoding c-maf-inducing protein (CMIP, minP = 5.5 × 10−7 at rs6564903) and that encoding calcium-transporting ATPase, type2C, member2 (ATP2C2, minP = 2.0 × 10−5 at rs11860694). Regression modeling indicated that each of these loci exerts an independent effect upon nonword repetition ability. Despite the consistent findings in language-impaired samples, investigation in a large unselected cohort (n = 3612) did not detect association. We therefore propose that variants in CMIP and ATP2C2 act to modulate phonological short-term memory primarily in the context of language impairment. As such, this investigation supports the hypothesis that some causes of language impairment are distinct from factors that influence normal language variation. This work therefore implicates CMIP and ATP2C2 in the etiology of SLI and provides molecular evidence for the importance of phonological short-term memory in language acquisition.

Abstract

The FOXP2 gene, located on human 7q31 (at the SPCH1 locus), encodes a transcription factor containing a polyglutamine tract and a forkhead domain. FOXP2 is mutated in a severe monogenic form of speech and language impairment, segregating within a single large pedigree, and is also disrupted by a translocation in an isolated case. Several studies of autistic disorder have demonstrated linkage to a similar region of 7q (the AUTS1 locus), leading to the proposal that a single genetic factor on 7q31 contributes to both autism and language disorders. In the present study, we directly evaluate the impact of the FOXP2 gene with regard to both complex language impairments and autism, through use of association and mutation screening analyses. We conclude that coding-region variants in FOXP2 do not underlie the AUTS1 linkage and that the gene is unlikely to play a role in autism or more common forms of language impairment.

Abstract

The ability to design tailored messages for specific listeners is an important aspect of
human communication. The present study investigates whether a mere belief about an
addressee’s identity influences the generation and production of a communicative message in
a novel, non-verbal communication task. Participants were made to believe they were playing a game with a child or an adult partner, while a confederate acted as both child
and adult partners with matched performance and response times. The participants’ belief
influenced their behavior, spending longer when interacting with the presumed child
addressee, but only during communicative portions of the game, i.e. using time as a tool
to place emphasis on target information. This communicative adaptation attenuated with
experience, and it was related to personality traits, namely Empathy and Need for Cognition
measures. Overall, these findings indicate that novel nonverbal communicative interactions
are selected according to a socio-centric perspective, and they are strongly
influenced by participants’ traits.

Abstract

The present study discusses psycholinguistic evidence for a difference between paradigmatic and extraparadigmatic morphology by investigating the processing of Finnish inflected and cliticized words. The data are derived from three sources of Finnish: from single-word reading performance in an agrammatic deep dyslectic speaker, as well as from visual lexical decision and wordness/learnability ratings of cliticized vs. inflected items by normal Finnish speakers. The agrammatic speaker showed awareness of the suffixes in multimorphemic words, including clitics, since he attempted to fill in this slot with morphological material. However, he never produced a clitic — either as the correct response or as an error — in any morphological configuration (simplex, derived, inflected, compound). Moreover, he produced more nominative singular errors for case-inflected nouns than he did for the cliticized words, a pattern that is expected if case-inflected forms were closely associated with their lexical heads, i.e., if they were paradigmatic and cliticized words were not. Furthermore, a visual lexical decision task with normal speakers of Finnish, showed an additional processing cost (longer latencies and more errors on cliticized than on case-inflected noun forms). Finally, a rating task indicated no difference in relative wordness between these two types of words. However, the same cliticized words were judged harder to learn as L2 items than the inflected words, most probably due to their conceptual/semantic properties, in other words due to their lack of word-level translation equivalents in SAVE languages. Taken together, the present results suggest that the distinction between paradigmatic and extraparadigmatic morphology is psychologically real.

Abstract

Research using the intermodal preferential looking paradigm (IPLP) has consistently shown that English-learning children aged 2 can associate transitive argument structure with causal events. However, studies using the same methodology investigating 2-year-old children’s knowledge of the conjoined agent intransitive and semantic role assignment have reported inconsistent findings. The aim of the present study was to establish at what age English-learning children have verb-general knowledge of both transitive and intransitive argument structure using a new method: the forced-choice pointing paradigm. The results suggest that young 2-year-olds can associate transitive structures with causal (or externally caused) events and can use transitive structure to assign agent and patient roles correctly. However, the children were unable to associate the conjoined agent intransitive with noncausal events until aged 3;4. The results confirm the pattern from previous IPLP studies and indicate that children may develop the ability to comprehend different aspects of argument structure at different ages. The implications for theories of language acquisition and the nature of the language acquisition mechanism are discussed.

Abstract

Human communication has been described as involving the coding-decoding of a conventional symbol system, which could be supported by parts of the human motor system (i.e. the “mirror neurons system”). However, this view does not explain how these conventions could develop in the first place. Here we target the neglected but crucial issue of how people organize their non-verbal behavior to communicate a given intention without pre-established conventions. We have measured behavioral and brain responses in pairs of subjects during communicative exchanges occurring in a real, interactive, on-line social context. In two fMRI studies, we found robust evidence that planning new communicative actions (by a sender) and recognizing the communicative intention of the same actions (by a receiver) relied on spatially overlapping portions of their brains (the right posterior superior temporal sulcus). The response of this region was lateralized to the right hemisphere, modulated by the ambiguity in meaning of the communicative acts, but not by their sensorimotor complexity. These results indicate that the sender of a communicative signal uses his own intention recognition system to make a prediction of the intention recognition performed by the receiver. This finding supports the notion that our communicative abilities are distinct from both sensorimotor processes and language abilities.

Abstract

In four experiments, we examined the facilitation that occurs when spoken-word targets rhyme with preceding spoken primes. In Experiment 1, listeners’ lexical decisions were faster to words following rhyming words (e.g., ramp–LAMP) than to words following unrelated primes (e.g., pink–LAMP). No facilitation was observed for nonword targets. Targets that almost rhymed with their primes (foils; e.g., bulk–SULSH) were included in Experiment 2; facilitation for rhyming targets was severely attenuated. Experiments 3 and 4 were single-word shadowing variants of the earlier experiments. There was facilitation for both rhyming words and nonwords; the presence of foils had no significant influence on the priming effect. A major component of the facilitation in lexical decision appears to be strategic: Listeners are biased to say “yes” to targets that rhyme with their primes, unless foils discourage this strategy. The nonstrategic component of phonological facilitation may reflect speech perception processes that operate prior to lexical access.

Abstract

There is much evidence for the existence of multiple memory systems. However, it has been argued that tasks assumed to reflect different memory systems share basic processing components and are mediated by overlapping neural systems. Here we used multivariate analysis of PET-data to analyze similarities and differences in brain activity for multiple tests of working memory, semantic memory, and episodic memory. The results from two experiments revealed between-systems differences, but also between-systems similarities and within-system differences. Specifically, support was obtained for a task-general working-memory network that may underlie active maintenance. Premotor and parietal regions were salient components of this network. A common network was also identified for two episodic tasks, cued recall and recognition, but not for a test of autobiographical memory. This network involved regions in right inferior and polar frontal cortex, and lateral and medial parietal cortex. Several of these regions were also engaged during the working-memory tasks, indicating shared processing for episodic and working memory. Fact retrieval and synonym generation were associated with increased activity in left inferior frontal and middle temporal regions and right cerebellum. This network was also associated with the autobiographical task, but not with living/non-living classification, and may reflect elaborate retrieval of semantic information. Implications of the present results for the classification of memory tasks with respect to systems and/or processes are discussed.

Abstract

Speech perception requires the decoding of complex acoustic patterns. According to most cognitive models of spoken word recognition, this complexity is dealt with before lexical access via a process of abstraction from the acoustic signal to pre-lexical categories. It is currently unclear how these categories are implemented in the auditory cortex. Recent advances in animal neurophysiology and human functional imaging have made it possible to investigate the processing of speech in terms of probabilistic cortical maps rather than simple cognitive subtraction, which will enable us to relate neurometric data more directly to behavioural studies. We suggest that integration of insights from cognitive science, neurophysiology and functional imaging is necessary for furthering our understanding of pre-lexical abstraction in the cortex.

Abstract

The acoustic realisation of a speech sound varies, often showing allophonic variation triggered by surrounding sounds. Listeners recognise words and sounds well despite such variation, and even make use of allophonic variability in processing. This study reports five experiments on processing of the reduced/unreduced allophonic alternation of Japanese high vowels. The results show that listeners use phonological knowledge of their native language during phoneme processing and word recognition. However, interactions of the phonological and acoustic effects differ in these two processes. A facilitatory phonological effect and an inhibitory acoustic effect cancel one another out in phoneme processing; while in word recognition, the facilitatory phonological effect overrides the inhibitory acoustic effect. Four potential models of the processing of allophonic variation are discussed. The results can be accommodated in two of them, but require additional assumptions or modifications to the models, and primarily support lexical specification of allophonic variability.

Abstract

Despite growing clinical and neurobiological interest in the brain mechanisms that process emotion in music, these mechanisms remain incompletely understood. Patients with frontotemporal lobar degeneration (FTLD) frequently exhibit clinical syndromes that illustrate the effects of breakdown in emotional and social functioning. Here we investigated the neuroanatomical substrate for recognition of musical emotion in a cohort of 26 patients with FTLD (16 with behavioural variant frontotemporal dementia, bvFTD, 10 with semantic dementia, SemD) using voxel-based morphometry. On neuropsychological evaluation, patients with FTLD showed deficient recognition of canonical emotions (happiness, sadness, anger and fear) from music as well as faces and voices compared with healthy control subjects. Impaired recognition of emotions from music was specifically associated with grey matter loss in a distributed cerebral network including insula, orbitofrontal cortex, anterior cingulate and medial prefrontal cortex, anterior temporal and more posterior temporal and parietal cortices, amygdala and the subcortical mesolimbic system. This network constitutes an essential brain substrate for recognition of musical emotion that overlaps with brain regions previously implicated in coding emotional value, behavioural context, conceptual knowledge and theory of mind. Musical emotion recognition may probe the interface of these processes, delineating a profile of brain damage that is essential for the abstraction of complex social emotions.

Abstract

This paper describes FieldTrip, an open source software package that we developed for the analysis of MEG, EEG, and other electrophysiological data. The software is implemented as a MATLAB toolbox and includes a complete set of consistent and user-friendly high-level functions that allow experimental neuroscientists to analyze experimental data. It includes algorithms for simple and advanced analysis, such as time-frequency analysis using multitapers, source reconstruction using dipoles, distributed sources and beamformers, connectivity analysis, and nonparametric statistical permutation tests at the channel and source level. The implementation as toolbox allows the user to perform elaborate and structured analyses of large data sets using the MATLAB command line and batch scripting. Furthermore, users and developers can easily extend the functionality and implement new algorithms. The modular design facilitates the reuse in other software packages.

Abstract

Do all components of a sign contribute equally to its recognition? In the present study, misperceptions in the sign-spotting task (based on the word-spotting task; Cutler & Norris, 1988) were analyzed to address this question. Three groups of deaf signers of British Sign Language (BSL) with different ages of acquisition (AoA) saw BSL signs combined with nonsense signs, along with combinations of two nonsense signs. They were asked to spot real signs and report what they had spotted. We will present an analysis of false alarms to the nonsense-sign combinations—that is, misperceptions of nonsense signs as real signs (cf. van Ooijen, 1996). Participants modified the movement and handshape parameters more than the location parameter. Within this pattern, however, there were differences as a function of AoA. These results show that the theoretical distinctions between form-based parameters in sign-language models have consequences for online processing. Vowels and consonants have different roles in speech recognition; similarly, it appears that movement, handshape, and location parameters contribute differentially to sign recognition.

Abstract

Evidence for the etiology of autism spectrum disorders (ASDs) has consistently pointed to a strong genetic component complicated by substantial locus heterogeneity1, 2. We sequenced the exomes of 20 individuals with sporadic ASD (cases) and their parents, reasoning that these families would be enriched for de novo mutations of major effect. We identified 21 de novo mutations, 11 of which were protein altering. Protein-altering mutations were significantly enriched for changes at highly conserved residues. We identified potentially causative de novo events in 4 out of 20 probands, particularly among more severely affected individuals, in FOXP1, GRIN2B, SCN1A and LAMC3. In the FOXP1 mutation carrier, we also observed a rare inherited CNTNAP2 missense variant, and we provide functional support for a multi-hit model for disease risk3. Our results show that trio-based exome sequencing is a powerful approach for identifying new candidate genes for ASDs and suggest that de novo mutations may contribute substantially to the genetic etiology of ASDs.

Abstract

Prior research has indicated that readers and listeners can use information in the prior discourse to rapidly predict specific upcoming words, as the text is unfolding. Here we used event-related potentials to explore whether the ability to make rapid online predictions depends on a reader's working memory capacity (WMC). Readers with low WMC were hypothesized to differ from high WMC readers either in their overall capability to make predictions (because of their lack of cognitive resources). High and low WMC participants read highly constraining stories that supported the prediction of a specific noun, mixed with coherent but essentially unpredictive ‘prime control’ control stories that contained the same content words as the predictive stories. To test whether readers were anticipating upcoming words, critical nouns were preceded by a determiner whose gender agreed or disagreed with the gender of the expected noun. In predictive stories, both high and low WMC readers displayed an early negative deflection (300–600 ms) to unexpected determiners, which was not present in prime control stories. Only the low WMC participants displayed an additional later negativity (900–1500 ms) to unexpected determiners. This pattern of results suggests that WMC does not influence the ability to anticipate upcoming words per se, but does change the way in which readers deal with information that disconfirms the generated prediction.

Abstract

The archaeological site of Sagalassos is located in Southwest Turkey, in the western part of the Taurus mountain range. Human occupation of its territory is attested from the late 12th millennium BP up to the 13th century AD. By analysing the mtDNA variation in 85 skeletons from Sagalassos dated to the 11th–13th century AD, this study attempts to reconstruct the genetic signature potentially left in this region of Anatolia by the many civilizations, which succeeded one another over the centuries until the mid-Byzantine period (13th century BC). Authentic ancient DNA data were determined from the control region and some SNPs in the coding region of the mtDNA in 53 individuals. Comparative analyses with up to 157 modern populations allowed us to reconstruct the origin of the mid-Byzantine people still dwelling in dispersed hamlets in Sagalassos, and to detect the maternal contribution of their potential ancestors. By integrating the genetic data with historical and archaeological information, we were able to attest in Sagalassos a significant maternal genetic signature of Balkan/Greek populations, as well as ancient Persians and populations from the Italian peninsula. Some contribution from the Levant has been also detected, whereas no contribution from Central Asian population could be ascertained.

Abstract

Do speakers use spontaneous gestures accompanying their speech for themselves or to communicate their message to their addressees? Two experiments show that speakers change the orientation of their gestures depending on the location of shared space, that is, the intersection of the gesture spaces of the speakers and addressees. Gesture orientations change more frequently when they accompany spatial prepositions such as into and out, which describe motion that has a beginning and end point, rather than across, which depicts an unbounded path across space. Speakers change their gestures so that they represent the beginning and end point of motion INTO or OUT by moving into or out of the shared space. Thus, speakers design their gestures for their addressees and therefore use them to communicate. This has implications for the view that gestures are a part of language use as well as for the role of gestures in speech production.

Abstract

Background Thirty-two common variants associated with body mass index (BMI) have been identified in genome-wide association studies, explaining ∼1.45% of BMI variation in general population cohorts. We performed a genome-wide association study in a sample of young adults enriched for extremely overweight individuals. We aimed to identify new loci associated with BMI and to ascertain whether using an extreme sampling design would identify the variants known to be associated with BMI in general populations. Methodology/Principal Findings From two large Danish cohorts we selected all extremely overweight young men and women (n = 2,633), and equal numbers of population-based controls (n = 2,740, drawn randomly from the same populations as the extremes, representing ∼212,000 individuals). We followed up novel (at the time of the study) association signals (p<}0.001) from the discovery cohort in a genome-wide study of 5,846 Europeans, before attempting to replicate the most strongly associated 28 SNPs in an independent sample of Danish individuals (n = 20,917) and a population-based cohort of 15-year-old British adolescents (n = 2,418). Our discovery analysis identified SNPs at three loci known to be associated with BMI with genome-wide confidence (P{<}5×10−8; FTO, MC4R and FAIM2). We also found strong evidence of association at the known TMEM18, GNPDA2, SEC16B, TFAP2B, SH2B1 and KCTD15 loci (p{<}0.001), and nominal association (p{<0.05) at a further 8 loci known to be associated with BMI. However, meta-analyses of our discovery and replication cohorts identified no novel associations. Significance Our results indicate that the detectable genetic variation associated with extreme overweight is very similar to that previously found for general BMI. This suggests that population-based study designs with enriched sampling of individuals with the extreme phenotype may be an efficient method for identifying common variants that influence quantitative traits and a valid alternative to genotyping all individuals in large population-based studies, which may require tens of thousands of subjects to achieve similar power.

Abstract

It has been suggested that placebo analgesia involves both higher order cognitive networks and endogenous opioid systems. The rostral anterior cingulate cortex (rACC) and the brainstem are implicated in opioid analgesia, suggesting a similar role for these structures in placebo analgesia. Using positron emission tomography, we confirmed that both opioid and placebo analgesia are associated with increased activity in the rACC. We also observed a covariation between the activity in the rACC and the brainstem during both opioid and placebo analgesia, but not during the pain-only condition. These findings indicate a related neural mechanism in placebo and opioid analgesia.

Abstract

It has been suggested that placebo analgesia involves both higher order cognitive networks and endogenous opioid systems. The rostral anterior cingulate cortex (rACC) and the brainstem are implicated in opioid analgesia, suggesting a similar role for these structures in placebo analgesia. Using positron emission tomography, we confirmed that both opioid and placebo analgesia are associated with increased activity in the rACC. We also observed a covariation between the activity in the rACC and the brainstem during both opioid and placebo analgesia, but not during the pain-only condition. These findings indicate a related neural mechanism in placebo and opioid analgesia.

Abstract

Several functional imaging studies of pain, using a number of different experimental paradigms and a variety of reference states, have failed to detect activations in the somatosensory cortices, while other imaging studies of pain have reported significant activations in these regions. The role of the somatosensory areas in pain processing has therefore been debated. In the present study the left hand was immersed in painfully cold water (standard cold pressor test) and in nonpainfully cold water during 2 min, and PET-scans were obtained either during the first or the second minute of stimulation. We observed no significant increase of activity in the somatosensory regions when the painful conditions were directly compared with the control conditions. In order to better understand the role of the primary somatosensory cortex (S1) in pain processing we used a regression analysis to study the relation between a ROI (region of interest) in the somatotopic S1-area for the stimulated hand and other regions known to be involved in pain processing. We hypothesized that although no increased activity was observed in the S1 during pain, this region would change its covariation pattern during noxious input as compared to the control stimulation if it is involved in or affected by the processing of pain. In the nonpainful cold conditions widespread regions of the ipsilateral and contralateral somatosensory cortex showed a positive covariation with the activity in the S1-ROI. However, during the first and second minute of pain this regression was significantly attenuated. During the second minute of painful stimulation there was a significant positive covariation between the activity in the S1-ROI and the other regions that are known to be involved in pain processing. Importantly, this relation was significantly stronger for the insula and the orbitofrontal cortex bilaterally when compared to the nonpainful state. The results indicate that the S1-cortex may be engaged in or affected by the processing of pain although no differential activity is observed when pain is compared with the reference condition.

Abstract

Background

Noncoding RNA (ncRNA) has been recognized as an important regulator of gene expression networks in Bacteria and Eucaryota. Little is known about ncRNA in thermococcal archaea except for the eukaryotic-like C/D and H/ACA modification guide RNAs.
Results

Using a combination of in silico and experimental approaches, we identified and characterized novel P. abyssi ncRNAs transcribed from 12 intergenic regions, ten of which are conserved throughout the Thermococcales. Several of them accumulate in the late-exponential phase of growth. Analysis of the genomic context and sequence conservation amongst related thermococcal species revealed two novel P. abyssi ncRNA families. The CRISPR family is comprised of crRNAs expressed from two of the four P. abyssi CRISPR cassettes. The 5'UTR derived family includes four conserved ncRNAs, two of which have features similar to known bacterial riboswitches. Several of the novel ncRNAs have sequence similarities to orphan OrfB transposase elements. Based on RNA secondary structure predictions and experimental results, we show that three of the twelve ncRNAs include Kink-turn RNA motifs, arguing for a biological role of these ncRNAs in the cell. Furthermore, our results show that several of the ncRNAs are subjected to processing events by enzymes that remain to be identified and characterized.
Conclusions

This work proposes a revised annotation of CRISPR loci in P. abyssi and expands our knowledge of ncRNAs in the Thermococcales, thus providing a starting point for studies needed to elucidate their biological function.