Publications

Abstract

A contentious issue in memory research is whether verbal short-term memory (STM) depends on a neural system specifically dedicated to the temporary maintenance of information, or instead relies on the same brain areas subserving the comprehension and production of language. In this study, we examined a large sample of adults with acquired brain lesions to identify the critical neural substrates underlying verbal STM and the relationship between verbal STM and language processing abilities. We found that patients with damage to selective regions of left perisylvian cortex – specifically the inferior frontal and posterior temporal sectors – were impaired on auditory–verbal STM performance (digit span), as well as on tests requiring the production and/or comprehension of language. These results support the conclusion that verbal STM and language processing are mediated by the same areas of left perisylvian cortex.

Abstract

Why does chanting, drumming or dancing together make people feel united? Here we investigate the neural mechanisms underlying interpersonal synchrony and its subsequent effects on prosocial behavior among synchronized individuals. We hypothesized that areas of the brain associated with the processing of reward would be active when individuals experience synchrony during drumming, and that these reward signals would increase prosocial behavior toward this synchronous drum partner. 18 female non-musicians were scanned with functional magnetic resonance imaging while they drummed a rhythm, in alternating blocks, with two different experimenters: one drumming in-synchrony and the other out-of-synchrony relative to the participant. In the last scanning part, which served as the experimental manipulation for the following prosocial behavioral test, one of the experimenters drummed with one half of the participants in-synchrony and with the other out-of-synchrony. After scanning, this experimenter "accidentally" dropped eight pencils, and the number of pencils collected by the participants was used as a measure of prosocial commitment. Results revealed that participants who mastered the novel rhythm easily before scanning showed increased activity in the caudate during synchronous drumming. The same area also responded to monetary reward in a localizer task with the same participants. The activity in the caudate during experiencing synchronous drumming also predicted the number of pencils the participants later collected to help the synchronous experimenter of the manipulation run. In addition, participants collected more pencils to help the experimenter when she had drummed in-synchrony than out-of-synchrony during the manipulation run. By showing an overlap in activated areas during synchronized drumming and monetary reward, our findings suggest that interpersonal synchrony is related to the brain's reward system.

Abstract

In various applications of forensic phonetics the question arises as to how far aural-perceptual speaker recognition performance is reliable. Therefore, it is necessary to examine the relationship between speaker recognition results and human perception/production abilities like musicality or speech sensitivity. In this study, performance in a speaker recognition experiment and a speech sensitivity test are correlated. The results show a moderately significant positive correlation between the two tasks. Generally, performance in the speaker recognition task was better than in the speech sensitivity test. Professionals in speech and singing yielded a more homogeneous correlation than non-experts. Training in speech as well as choir-singing seems to have a positive effect on performance in speaker recognition. It may be concluded, firstly, that in cases where the reliability of voice line-up results or the credibility of a testimony have to be considered, the speech sensitivity test could be a useful indicator. Secondly, the speech sensitivity test might be integrated into the canon of possible procedures for the accreditation of forensic phoneticians. Both tests may also be used in combination.

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

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

Individuals affected with developmental disorders of speech and language have substantial difficulty acquiring expressive and/or receptive language in the absence of any profound sensory or neurological impairment and despite adequate intelligence and opportunity. Although studies of twins consistently indicate that a significant genetic component is involved, most families segregating speech and language deficits show complex patterns of inheritance, and a gene that predisposes individuals to such disorders has not been identified. We have studied a unique three-generation pedigree, KE, in which a severe speech and language disorder is transmitted as an autosomal-dominant monogenic trait. Our previous work mapped the locus responsible, SPCH1, to a 5.6-cM interval of region 7q31 on chromosome 7 (ref. 5). We also identified an unrelated individual, CS, in whom speech and language impairment is associated with a chromosomal translocation involving the SPCH1 interval. Here we show that the gene FOXP2, which encodes a putative transcription factor containing a polyglutamine tract and a forkhead DNA-binding domain, is directly disrupted by the translocation breakpoint in CS. In addition, we identify a point mutation in affected members of the KE family that alters an invariant amino-acid residue in the forkhead domain. Our findings suggest that FOXP2 is involved in the developmental process that culminates in speech and language

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

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 paper presents a new approach to functional magnetic resonance imaging (FMRI) data analysis. The main difference lies in the view of what comprises an observation. Here we treat the data from one scanning session (comprising t volumes, say) as one observation. This is contrary to the conventional way of looking at the data where each session is treated as t different observations. Thus instead of viewing the v voxels comprising the 3D volume of the brain as the variables, we suggest the usage of the vt hypervoxels comprising the 4D volume of the brain-over-session as the variables. A linear model is fitted to the 4D volumes originating from different sessions. Parameter estimation and hypothesis testing in this model can be performed with standard techniques. The hypothesis testing generates 4D statistical images (SIs) to which any relevant test statistic can be applied. In this paper we describe two test statistics, one voxel based and one cluster based, that can be used to test a range of hypotheses. There are several benefits in treating the data from each session as one observation, two of which are: (i) the temporal characteristics of the signal can be investigated without an explicit model for the blood oxygenation level dependent (BOLD) contrast response function, and (ii) the observations (sessions) can be assumed to be independent and hence inference on the 4D SI can be made by nonparametric or Monte Carlo methods. The suggested 4D approach is applied to FMRI data and is shown to accurately detect the expected signal

Abstract

The purpose of this study was to relate a psycholinguistic processing model of picture naming to the dynamics of cortical activation during picture naming. The activation was recorded from eight Dutch subjects with a whole-head neuromagnetometer. The processing model, based on extensive naming latency studies, is a stage model. In preparing a picture's name, the speaker performs a chain of specific operations. They are, in this order, computing the visual percept, activating an appropriate lexical concept, selecting the target word from the mental lexicon, phonological encoding, phonetic encoding, and initiation of articulation. The time windows for each of these operations are reasonably well known and could be related to the peak activity of dipole sources in the individual magnetic response patterns. The analyses showed a clear progression over these time windows from early occipital activation, via parietal and temporal to frontal activation. The major specific findings were that (1) a region in the left posterior temporal lobe, agreeing with the location of Wernicke's area, showed prominent activation starting about 200 msec after picture onset and peaking at about 350 msec, (i.e., within the stage of phonological encoding), and (2) a consistent activation was found in the right parietal cortex, peaking at about 230 msec after picture onset, thus preceding and partly overlapping with the left temporal response. An interpretation in terms of the management of visual attention is proposed.

Abstract

This commentary discusses whether abstract metrical frames are stored. For stress-assigning languages (e.g., Dutch and English), which have a dominant stress pattern, metrical frames are stored only for words that deviate from the default stress pattern. The majority of the words in these languages are produced without retrieving any independent syllabic or metrical frame.

Abstract

A core operation in speech production is the preparation of words from a semantic base. The theory of lexical access reviewed in this article covers a sequence of processing stages beginning with the speaker’s focusing on a target concept and ending with the initiation of articulation. The initial stages of preparation are concerned with lexical selection, which is zooming in on the appropriate lexical item in the mental lexicon. The following stages concern form encoding, i.e., retrieving a word’s morphemic phonological codes, syllabifying the word, and accessing the corresponding articulatory gestures. The theory is based on chronometric measurements of spoken word production, obtained, for instance, in picture-naming tasks. The theory is largely computationally implemented. It provides a handle on the analysis of multiword utterance production as well as a guide to the analysis and design of neuroimaging studies of spoken utterance production.

Abstract

The core issue in the 19-century sources of psycholinguistics was the question, "Where does language come from?'' This genetic perspective unified the study of the ontogenesis, the phylogenesis, the microgenesis, and to some extent the neurogenesis of language. This paper makes the point that this original perspective is still a valid and attractive one. It is exemplified by a discussion of the genesis of spoken words.

Abstract

How do languages express ideas of movement, and how do they package different components of this domain, such as manner and path of motion? This task uses one large set of stimuli to gain knowledge of certain key aspects of motion verb meanings in the target language, and expands the investigation beyond simple verbs (e.g., go) to include the semantics of motion predications complete with adjuncts (e.g., go across something). Consultants are asked to view and briefly describe 96 animations of a few seconds each. The task is designed to get linguistic elicitations of motion predications under contrastive comparison with other animations in the same set. Unlike earlier tasks, the stimuli focus on inanimate moving items or “figures” (in this case, a ball).

Abstract

Reproduced with permission of Blackwell Publishing from: Levinson, S. C. (2004) 'Deixis'. In: Horn, L.R. and Ward, G. (Eds.) The Handbook of Pragmatics. Oxford: Blackwell Publishing, pp. 100-121

Abstract

Demonstratives (e.g., words such as this and that in English) pivot on relationships between the item being talked about, and features of the speech act situation (e.g., where the speaker and addressee are standing or looking). However, they are only rarely investigated multi-modally, in natural language contexts. This task is designed to build a video corpus of cross-linguistically comparable discourse data for the study of “deixis in action”, while simultaneously supporting the investigation of joint attention as a factor in speaker selection of demonstratives. In the task, two or more speakers are asked to discuss and evaluate a group of similar items (e.g., examples of local handicrafts, tools, produce) that are placed within a relatively defined space (e.g., on a table). The task can additionally provide material for comparison of pointing gesture practices.

Abstract

This entry contains: 1. An invitation to think about to what extent the grammar of space and time share lexical and morphosyntactic resources − the suggestions here are only prompts, since it would take a long questionnaire to fully explore this; 2. A suggestion about how to collect gestural data that might show us to what extent the spatial and temporal domains, have a psychological continuity. This is really the goal − but you need to do the linguistic work first or in addition. The goal of this task is to explore the extent to which time is conceptualised on a spatial basis.

Abstract

The ECHO proposal aims to bring to life the cultural heritage of Europe, through internet technology that encourages collaboration across the Humanities disciplines which interpret it – at the same time making all this scholarship accessible to the citizens of Europe. An essential part of the cultural heritage of Europe is the diverse set of languages used on the continent, in their historical, literary and spoken forms. Amongst these are the ‘hidden languages’ used by minorities but of wide interest to the general public. We take the 18 Sign Languages of the EEC – the natural languages of the deaf - as an example. Little comparative information about these is available, despite their special scientific importance, the widespread public interest and the policy implications. We propose a research project on these languages based on placing fully annotated digitized moving images of each of these languages on the internet. This requires significant development of multi-media technology which would allow distributed annotation of a central corpus, together with the development of special search techniques. The technology would have widespread application to all cultural performances recorded as sound plus moving images. Such a project captures in microcosm the essence of the ECHO proposal: cultural heritage is nothing without the humanities research which contextualizes and gives it comparative assessment; by marrying information technology to humanities research, we can bring these materials to a wider public while simultaneously boosting Europe as a research area.

Abstract

As for 'Locally-anchored spatial gestures task, version 2', a major goal of this task is to elicit locally-anchored spatial gestures across different cultures. “Locally-anchored spatial gestures” are gestures that are roughly oriented to the actual geographical direction of referents. Rather than set up an interview situation, this task involves recording informal, animated narrative delivered to a native-speaker interlocutor. Locally-anchored gestures produced in such narrative are roughly comparable to those collected in the interview task. The data collected can also be used to investigate a wide range of other topics.

Abstract

Reprinted with permission of The MIT Press from Levinson (2000) Presumptive meanings: The theory of generalized conversational implicature, pp. 112-118, 116-167, 170-173, 177-180. MIT Press

Abstract

Yélî Dnye has two discernable dedicated constructions for reciprocal marking. The first and main construction uses a dedicated reciprocal pronoun numo, somewhat like English each other. We can recognise two subconstructions. First, the ‘numo-construction’, where the reciprocal pronoun is a patient of the verb, and where the invariant pronoun numo is obligatorily incorporated, triggering intransitivisation (e.g. A-NPs become absolutive). This subconstruction has complexities, for example in the punctual aspect only, the verb is inflected like a transitive, but with enclitics mismatching actual person/number. In the second variant or subconstruction, the ‘noko-construction’, the same reciprocal pronoun (sometimes case-marked as noko) occurs but now in oblique positions with either transitive or intransitive verbs. The reciprocal element here has some peculiar binding properties. Finally, the second independent construction is a dedicated periphrastic (or woni…woni) construction, glossing ‘the one did X to the other, and the other did X to the one’. It is one of the rare cross-serial dependencies that show that natural languages cannot be modelled by context-free phrase-structure grammars. Finally, the usage of these two distinct constructions is discussed.

Abstract

Philosophers, psychologists, and linguists have argued that spatial conception is pivotal to cognition in general, providing a general, egocentric, and universal framework for cognition as well as metaphors for conceptualizing many other domains. But in an aboriginal community in Northern Queensland, a system of cardinal directions informs not only language, but also memory for arbitrary spatial arrays and directions. This work suggests that fundamental cognitive parameters, like the system of coding spatial locations, can vary cross-culturally, in line with the language spoken by a community. This opens up the prospect of a fruitful dialogue between anthropology and the cognitive sciences on the complex interaction between cultural and universal factors in the constitution of mind.

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

Reprint from Stephen C. Levinson, ‘Three Levels of Meaning’, in Frank Palmer (ed.), Grammar and Meaning: Essays in Honor of Sir John Lyons (Cambridge University Press, 1995), pp. 90–115

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

Changing Prospects for Universals in Pragmatics
The term PRAGMATICS has come to denote the study of general principles of language use. It is usually understood to contrast with SEMANTICS, the study of encoded meaning, and also, by some authors, to contrast with SOCIOLINGUISTICS
and the ethnography of speaking, which are more concerned with local sociocultural practices. Given that pragmaticists come from disciplines as varied as philosophy, sociology,
linguistics, communication studies, psychology, and anthropology, it is not surprising that definitions of pragmatics vary. Nevertheless, most authors agree on a list of topics
that come under the rubric, including DEIXIS, PRESUPPOSITION,
implicature (see CONVERSATIONAL IMPLICATURE), SPEECH-ACTS, and conversational organization (see CONVERSATIONAL ANALYSIS). Here, we can use this extensional definition as a starting point (Levinson 1988; Huang 2007).

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

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

How similar are reciprocal constructions in the semantic parameters they encode? We investigate this question by using an extensional approach, which examines similarity of meaning by examining how constructions are applied over a set of 64 videoclips depicting reciprocal events (Evans et al. 2004). We apply statistical modelling to descriptions from speakers of 20 languages elicited using the videoclips. We show that there are substantial differences in meaning between constructions of different languages.

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

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

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

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

We introduce the papers in this special issue by summarising the current major issues in spoken word recognition. We argue that a full understanding of the process of lexical access during speech comprehension will depend on resolving several key representational issues: what is the form of the representations used for lexical access; how is phonological information coded in the mental lexicon; and how is the morphological and semantic information about each word stored? We then discuss a number of distinct access processes: competition between lexical hypotheses; the computation of goodness-of-fit between the signal and stored lexical knowledge; segmentation of continuous speech; whether the lexicon influences prelexical processing through feedback; and the relationship of form-based processing to the processes responsible for deriving an interpretation of a complete utterance. We conclude that further progress may well be made by swapping ideas among the different sub-domains of the discipline.

Abstract

In two word-spotting experiments, Japanese listeners detected Japanese words faster in vowel contexts (e.g., agura, to sit cross-legged, in oagura) than in consonant contexts (e.g., tagura). In the same experiments, however, listeners spotted words in vowel contexts (e.g., saru, monkey, in sarua) no faster than in moraic nasal contexts (e.g., saruN). In a third word-spotting experiment, words like uni, sea urchin, followed contexts consisting of a consonant-consonant-vowel mora (e.g., gya) plus either a moraic nasal (gyaNuni), a vowel (gyaouni) or a consonant (gyabuni). Listeners spotted words as easily in the first as in the second context (where in each case the target words were aligned with mora boundaries), but found it almost impossible to spot words in the third (where there was a single consonant, such as the [b] in gyabuni, between the beginning of the word and the nearest preceding mora boundary). Three control experiments confirmed that these effects reflected the relative ease of segmentation of the words from their contexts.We argue that the listeners showed sensitivity to the viability of sound sequences as possible Japanese words in the way that they parsed the speech into words. Since single consonants are not possible Japanese words, the listeners avoided lexical parses including single consonants and thus had difficulty recognizing words in the consonant contexts. Even though moraic nasals are also impossible words, they were not difficult segmentation contexts because, as with the vowel contexts, the mora boundaries between the contexts and the target words signaled likely word boundaries. Moraic rhythm appears to provide Japanese listeners with important segmentation cues.

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

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

Eye movements have been shown to reflect word recognition and language comprehension processes occurring during reading and auditory language comprehension. The present study examines whether the eye movements speakers make during object naming similarly reflect speech planning processes. In Experiment 1, speakers named object pairs saying, for instance, 'scooter and hat'. The objects were presented as ordinary line drawings or with partly dele:ed contours and had high or low frequency names. Contour type and frequency both significantly affected the mean naming latencies and the mean time spent looking at the objects. The frequency effects disappeared in Experiment 2, in which the participants categorized the objects instead of naming them. This suggests that the frequency effects of Experiment 1 arose during lexical retrieval. We conclude that eye movements during object naming indeed reflect linguistic planning processes and that the speakers' decision to move their eyes from one object to the next is contingent upon the retrieval of the phonological form of the object names.

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

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

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

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

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

The human language processor is conceived as a system that consists of several interrelated subsystems. Each subsystem performs a specific task in the complex process of language comprehension and production. A subsystem receives a particular input, performs certain specific operations on this input and yields a particular output. The subsystems can be characterized in terms of the transformations that relate the input representations to the output representations. An important issue in describing the language processing system is to identify the subsystems and to specify the relations between the subsystems. These relations can be conceived in two different ways. In one conception the subsystems are autonomous. They are related to each other only by the input-output channels. The operations in one subsystem are not affected by another system. The subsystems are modular, that is they are independent. In the other conception, the different subsystems influence each other. A subsystem affects the processes in another subsystem. In this conception there is an interaction between the subsystems.

Abstract

The reading process depends both on the text and on the reader. When we read a text, propositions in the current input are matched to propositions in the memory representation of the previous discourse but also to knowledge structures in long‐term memory. Therefore, memory‐based text processing refers both to the bottom‐up processing of the text and to the top‐down activation of the reader's knowledge. In this article, we focus on the role of cognitive structures in the reader's knowledge. We argue that causality is an important category in structuring human knowledge and that this property has consequences for text processing. Some research is discussed that illustrates that the more the information in the text reflects causal categories, the more easily the information is processed.

Abstract

Two word-spotting experiments are reported that examine whether the Possible-Word Constraint (PWC) is a language-specific or language-universal strategy for the segmentation of continuous speech. The PWC disfavours parses which leave an impossible residue between the end of a candidate word and any likely location of a word boundary, as cued in the speech signal. The experiments examined cases where the residue was either a CVC syllable with a schwa, or a CV syllable with a lax vowel. Although neither of these syllable contexts is a possible lexical word in English, word-spotting in both contexts was easier than in a context consisting of a single consonant. Two control lexical-decision experiments showed that the word-spotting results reflected the relative segmentation difficulty of the words in different contexts. The PWC appears to be language-universal rather than language-specific.

Abstract

Recent functional brain imaging studies have shown that sensory-specific brain regions that are activated during perception/encoding of sensory-specific information are reactivated during memory retrieval of the same information. Here we used PET to examine whether verbal retrieval of action phrases is associated with reactivation of motor brain regions if the actions were overtly or covertly performed during encoding. Compared to a verbal condition, encoding by means of overt as well as covert activity was associated with differential activity in regions in contralateral somatosensory and motor cortex. Several of these regions were reactivated during retrieval. Common to both the overt and covert conditions was reactivation of regions in left ventral motor cortex and left inferior parietal cortex. A direct comparison of the overt and covert activity conditions showed that activation and reactivation of left dorsal parietal cortex and right cerebellum was specific to the overt condition. These results support the reactivation hypothesis by showing that verbal-explicit memory of actions involves areas that are engaged during overt and covert motor activity.

Abstract

Memorializes Martin D. S. Braine, whose research on child language acquisition and on both child and adult thinking and reasoning had a major influence on modern cognitive psychology. Addressing meaning as well as position, Braine argued that children start acquiring language by learning narrow-scope positional formulas that map components of meaning to positions in the utterance. These proposals were critical in starting discussions of the possible universality of the pivot-grammar stage and of the role of syntax, semantics,and pragmatics in children's early grammar and were pivotal to the rise of approaches in which cognitive development in language acquisition is stressed.

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

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

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

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

The study of illiterate subjects, which for specific socio-cultural reasons did not have the opportunity to acquire basic reading and writing skills, represents one approach to study the interaction between neurobiological and cultural factors in cognitive development and the functional organization of the human brain. In addition the naturally occurring illiteracy may serve as a model for studying the influence of alphabetic orthography on auditory-verbal language. In this paper we have reviewed some recent behavioral and functional neuroimaging data indicating that learning an alphabetic written language modulates the auditory-verbal language system in a non-trivial way and provided support for the hypothesis that the functional architecture of the brain is modulated by literacy. We have also indicated that the effects of literacy and formal schooling is not limited to language related skills but appears to affect also other cognitive domains. In particular, we indicate that formal schooling influences 2D but not 3D visual naming skills. We have also pointed to the importance of using ecologically relevant tasks when comparing literate and illiterate subjects. We also demonstrate the applicability of a network approach in elucidating differences in the functional organization of the brain between groups. The strength of such an approach is the ability to study patterns of interactions between functionally specialized brain regions and the possibility to compare such patterns of brain interactions between groups or functional states. This complements the more commonly used activation approach to functional neuroimaging data, which characterize functionally specialized regions, and provides important data characterizing the functional interactions between these regions.