Publications

Abstract

We investigated the time course of conjunctive ''same''-''different'' judgements for visually presented object pairs by means of combined reaction time and on-line eye movement measurements. The analyses of viewing patterns, viewing times, and reaction times showed that participants engaged in a parallel self-terminating search for differences. In addition, the results obtained for objects differing in only one dimension suggest that processing times may depend on the relative codability of the stimulus dimensions. The results are reviewed in a broader framework in view of higher-order processes. We propose that overspecifications of colour, often found in object descriptions, may have an ''early'' visual rather than a ''late'' linguistic origin. In a parallel assessment of the detection materials, participants overspecified the objects' colour substantially more often than their size. We argue that referential overspecifications of colour are largely attributable to mechanisms of visual discrimination.

Abstract

Intelligence in childhood, as measured by psychometric cognitive tests, is a strong predictor of many important life outcomes, including educational attainment, income, health and lifespan. Results from twin, family and adoption studies are consistent with general intelligence being highly heritable and genetically stable throughout the life course. No robustly associated genetic loci or variants for childhood intelligence have been reported. Here, we report the first genome-wide association study (GWAS) on childhood intelligence (age range 6–18 years) from 17 989 individuals in six discovery and three replication samples. Although no individual single-nucleotide polymorphisms (SNPs) were detected with genome-wide significance, we show that the aggregate effects of common SNPs explain 22–46% of phenotypic variation in childhood intelligence in the three largest cohorts (P=3.9 × 10−15, 0.014 and 0.028). FNBP1L, previously reported to be the most significantly associated gene for adult intelligence, was also significantly associated with childhood intelligence (P=0.003). Polygenic prediction analyses resulted in a significant correlation between predictor and outcome in all replication cohorts. The proportion of childhood intelligence explained by the predictor reached 1.2% (P=6 × 10−5), 3.5% (P=10−3) and 0.5% (P=6 × 10−5) in three independent validation cohorts. Given the sample sizes, these genetic prediction results are consistent with expectations if the genetic architecture of childhood intelligence is like that of body mass index or height. Our study provides molecular support for the heritability and polygenic nature of childhood intelligence. Larger sample sizes will be required to detect individual variants with genome-wide significance.

Abstract

Background De novo SCN8A missense mutations have been identified as a rare dominant cause of epileptic encephalopathy. We described a person with epileptic encephalopathy associated with a mosaic deletion of the SCN8A gene. Methods Array comparative genome hybridization was used to identify chromosomal abnormalities. Next Generation Sequencing was used to screen for variants in known and candidate epilepsy genes. A single nucleotide polymorphism array was used to test whether the SCN8A variants were in cis or in trans. Results We identified a de novo mosaic deletion of exons 2–14 of SCN8A, and a rare maternally inherited missense variant on the other allele in a woman presenting with absence seizures, challenging behavior, intellectual disability and QRS-fragmentation on the ECG. We also found a variant in SCN5A. Conclusions The combination of a rare missense variant with a de novo mosaic deletion of a large part of the SCN8A gene suggests that other possible mechanisms for SCN8A mutations may cause epilepsy; loss of function, genetic modifiers and cellular interference may play a role. This case expands the phenotype associated with SCN8A mutations, with absence epilepsy and regression in language and memory skills.

Abstract

The Headturn Preference Procedure (HPP) is a frequently used method (e.g., Jusczyk & Aslin; and subsequent studies) to investigate linguistic abilities in infants. In this paradigm infants are usually first familiarised with words and then tested for a listening preference for passages containing those words in comparison to unrelated passages. Listening preference is defined as the time an infant spends attending to those passages with his or her head turned towards a flashing light and the speech stimuli. The knowledge and abilities inferred from the results of HPP studies have been used to reason about and formally model early linguistic skills and language acquisition. However, the actual cause of infants' behaviour in HPP experiments has been subject to numerous assumptions as there are no means to directly tap into cognitive processes. To make these assumptions explicit, and more crucially, to understand how infants' behaviour emerges if only general learning mechanisms are assumed, we introduce a computational model of the HPP. Simulations with the computational HPP model show that the difference in infant behaviour between familiarised and unfamiliar words in passages can be explained by a general learning mechanism and that many assumptions underlying the HPP are not necessarily warranted. We discuss the implications for conventional interpretations of the outcomes of HPP experiments.

Abstract

During language acquisition, infants frequently encounter ambient noise. We present a computational model to address whether specific acoustic processing abilities are necessary to detect known words in moderate noise—an ability attested experimentally in infants. The model implements a general purpose speech encoding and word detection procedure. Importantly, the model contains no dedicated processes for removing or cancelling out ambient noise, and it can replicate the patterns of results obtained in several infant experiments. In addition to noise, we also addressed the role of previous experience with particular target words: does the frequency of a word matter, and does it play a role whether that word has been spoken by one or multiple speakers? The simulation results show that both factors affect noise robustness. We also investigated how robust word detection is to changes in speaker identity by comparing words spoken by known versus unknown speakers during the simulated test. This factor interacted with both noise level and past experience, showing that an increase in exposure is only helpful when a familiar speaker provides the test material. Added variability proved helpful only when encountering an unknown speaker. Finally, we addressed whether infants need to recognise specific words, or whether a more parsimonious explanation of infant behaviour, which we refer to as matching, is sufficient. Recognition involves a focus of attention on a specific target word, while matching only requires finding the best correspondence of acoustic input to a known pattern in the memory. Attending to a specific target word proves to be more noise robust, but a general word matching procedure can be sufficient to simulate experimental data stemming from young infants. A change from acoustic matching to targeted recognition provides an explanation of the improvements observed in infants around their first birthday. In summary, we present a computational model incorporating only the processes infants might employ when hearing words in noise. Our findings show that a parsimonious interpretation of behaviour is sufficient and we offer a formal account of emerging abilities.

Abstract

The possible role of emotion in anosognosia for hemiplegia (i.e., denial of motor deficits contralateral to a brain lesion), has long been debated between psychodynamic and neurocognitive theories. However, there are only a handful of case studies focussing on this topic, and the precise role of emotion in anosognosia for hemiplegia requires empirical investigation. In the present study, we aimed to investigate how negative and positive emotions influence motor awareness in anosognosia. Positive and negative emotions were induced under carefully-controlled experimental conditions in right-hemisphere stroke patients with anosognosia for hemiplegia (n = 11) and controls with clinically normal awareness (n = 10). Only the negative, emotion induction condition resulted in a significant improvement of motor awareness in anosognosic patients compared to controls; the positive emotion induction did not. Using lesion overlay and voxel-based lesion-symptom mapping approaches, we also investigated the brain lesions associated with the diagnosis of anosognosia, as well as with performance on the experimental task. Anatomical areas that are commonly damaged in AHP included the right-hemisphere motor and sensory cortices, the inferior frontal cortex, and the insula. Additionally, the insula, putamen and anterior periventricular white matter were associated with less awareness change following the negative emotion induction. This study suggests that motor unawareness and the observed lack of negative emotions about one's disabilities cannot be adequately explained by either purely motivational or neurocognitive accounts. Instead, we propose an integrative account in which insular and striatal lesions result in weak interoceptive and motivational signals. These deficits lead to faulty inferences about the self, involving a difficulty to personalise new sensorimotor information, and an abnormal adherence to premorbid beliefs about the body.

Abstract

Psycholinguistic studies of metaphor processing must control their stimuli not just for word frequency but also for the frequency with which a term is used metaphorically. Thus, we consider the task of metaphor frequency estimation, which predicts how often target words will be used metaphorically. We develop metaphor classifiers which represent metaphorical domains through Latent Dirichlet Allocation, and apply these classifiers to the target words, aggregating their decisions to estimate the metaphorical frequencies. Training on only 400 sentences, our models are able to achieve 61.3 % accuracy on metaphor classification and 77.8 % accuracy on HIGH vs. LOW metaphorical frequency estimation.

Abstract

Whilst some locative verbs alternate between the ground- and figure-locative constructions (e.g. Lisa sprayed the flowers with water/Lisa sprayed water onto the flowers), others are restricted to one construction or the other (e.g. *Lisa filled water into the cup/*Lisa poured the cup with water). The present study investigated two proposals for how learners (aged 5–6, 9–10 and adults) acquire this restriction, using a novel-verb-learning grammaticality-judgment paradigm. In support of the semantic verb class hypothesis, participants in all age groups used the semantic properties of novel verbs to determine the locative constructions (ground/figure/both) in which they could and could not appear. In support of the frequency hypothesis, participants' tolerance of overgeneralisation errors decreased with each increasing level of verb frequency (novel/low/high). These results underline the need to develop an integrated account of the roles of semantics and frequency in the retreat from argument structure overgeneralisation.

Abstract

The Basic Variety (BV) as conceived by Klein and Perdue (K&P) is a relatively stable state in the process of spontaneous (adult) second language acquisition, characterized by a small set of phrasal, semantic and pragmatic principles. These principles are derived by inductive generalization from a fairly large body of data. They are considered by K&P as roughly equivalent to those of Universal Grammar (UG) in the sense of Chomsky's Minimalist Program, with the proviso that the BV allows for only weak (or unmarked) formal features. The present article first discusses the viability of the BV principles proposed by K&P, arguing that some of them are in need of clarification with learner varieties, and that they are, in any case, not likely to be part of UG, as they exclude phenomena (e.g., so-called psych verbs) that cannot be ruled out even from the core of natural language. The article also considers the proposal that learner varieties of the BV type are completely unmarked instantiations of UG. Putting aside problems arising from the Minimalist Program, especially the question whether a grammar with only weak features would be a factual possibility and what it would look like, it is argued that the BV as characterized by K&P must be considered as the result of a process that crucially differs from first language acquisition as furnished by UG for a number of reasons, including properties of the BV itself. As a matter of fact, several of the properties claimed for the BV by K&P are more likely the result of general learning strategies than of language-specific principles. If this is correct, the characterization of the BV is a fairly interesting result, albeit of a rather different type than K&P suggest.

Abstract

Quotations are a means to report a broad range of events in addition to speech, and often involve both vocal and bodily demonstration. The present study examined the use of quotation to report a variety of multisensory events (i.e., containing salient visible and audible elements) as participants watched and then described a set of video clips including human speech and animal vocalizations. We examined the relationship between demonstrations conveyed through the vocal versus bodily modality, comparing them across four common quotation devices (be like, go, say, and zero quotatives), as well as across direct and non-direct quotations and retellings. We found that direct quotations involved high levels of both vocal and bodily demonstration, while non-direct quotations involved lower levels in both these channels. In addition, there was a strong positive correlation between vocal and bodily demonstration for direct quotation. This result supports a Multimodal Hypothesis where information from the two channels arises from one central concept.

Abstract

The range of linguistic structures and interactional practices associated with other-initiated repair (OIR) is surveyed for the Northern Australian language Murrinh-Patha. By drawing on a video corpus of informal Murrinh- Patha conversation, the OIR formats are compared in terms of their utility and versatility. Certain “restricted” formats have semantic properties that point to prior trouble source items. While these make the restricted repair initiators more specialised, the “open” formats are less well resourced semantically, which makes them more versatile. They tend to be used when the prior talk is potentially problematic in more ways than one. The open formats (especially thangku, “what?”) tend to solicit repair operations on each potential source of trouble, such that the resultant repair solution improves upon the troublesource turn in several ways

Abstract

Social exclusion results in lowered satisfaction of basic needs and shapes behavior in subsequent social situations. We investigated
participants’ immediate behavioral response during exclusion from an interaction that consisted of establishing eye contact. A
newly developed eye-tracker-based ‘‘looking game’’ was employed; participants exchanged looks with two virtual partners in an
exchange where the player who had just been looked at chose whom to look at next. While some participants received as many
looks as the virtual players (included), others were ignored after two initial looks (excluded). Excluded participants reported lower
basic need satisfaction, lower evaluation of the interaction, and devaluated their interaction partners more than included
participants, demonstrating that people are sensitive to epistemic ostracism. In line with William’s need-threat model,
eye-tracking results revealed that excluded participants did not withdraw from the unfavorable interaction, but increased the
number of looks to the player who could potentially reintegrate them.

Abstract

We present two arguments why physical adaptations for vocalization may be as important as neural adaptations. First, fine control over vocalization is not easy for physical reasons, and modern humans may be exceptional. Second, we present an example of a gorilla that shows rudimentary voluntary control over vocalization, indicating that some neural control is already shared with great apes.

Abstract

Humans are especially good at taking another’s perspective — representing what others might be thinking or experiencing. This “mentalizing” capacity is apparent in everyday human interactions and conversations. We investigated its neural basis using magnetoencephalography. We focused on whether mentalizing was engaged spontaneously and routinely to understand an utterance’s meaning or largely on-demand, to restore "common ground" when expectations were violated. Participants conversed with 1 of 2 confederate speakers and established tacit agreements about objects’ names. In a subsequent “test” phase, some of these agreements were violated by either the same or a different speaker. Our analysis of the neural processing of test phase utterances revealed recruitment of neural circuits associated with language (temporal cortex), episodic memory (e.g., medial temporal lobe), and mentalizing (temporo-parietal junction and ventro-medial prefrontal cortex). Theta oscillations (3 - 7 Hz) were modulated most prominently, and we observed phase coupling between functionally distinct neural circuits. The episodic memory and language circuits were recruited in anticipation of upcoming referring expressions, suggesting that context-sensitive predictions were spontaneously generated. In contrast, the mentalizing areas were recruited on-demand, as a means for detecting and resolving perceived pragmatic anomalies, with little evidence they were activated to make partner-specific predictions about upcoming linguistic utterances.

Abstract

In conversation, turn transitions between speakers often occur smoothly, usually within a time window of a few hundred milliseconds. It has been argued, on the basis of a button-press experiment [De Ruiter, J. P., Mitterer, H., & Enfield, N. J. (2006). Projecting the end of a speaker's turn: A cognitive cornerstone of conversation. Language, 82(3):515–535], that participants in conversation rely mainly on lexico-syntactic information when timing and producing their turns, and that they do not need to make use of intonational cues to achieve smooth transitions and avoid overlaps. In contrast to this view, but in line with previous observational studies, our results from a dialogue task and a button-press task involving questions and answers indicate that the identification of the end of intonational phrases is necessary for smooth turn-taking. In both tasks, participants never responded to questions (i.e., gave an answer or pressed a button to indicate a turn end) at turn-internal points of syntactic completion in the absence of an intonational phrase boundary. Moreover, in the button-press task, they often pressed the button at the same point of syntactic completion when the final word of an intonational phrase was cross-spliced at that location. Furthermore, truncated stimuli ending in a syntactic completion point but lacking an intonational phrase boundary led to significantly delayed button presses. In light of these results, we argue that earlier claims that intonation is not necessary for correct turn-end projection are misguided, and that research on turn-taking should continue to consider intonation as a source of turn-end cues along with other linguistic and communicative phenomena.

Abstract

A striking puzzle about language use in everyday conversation is that turn-taking latencies are usually very short, whereas planning language production takes much longer. This implies overlap between language comprehension and production processes, but the nature and extent of such overlap has never been studied directly. Combining an interactive quiz paradigm with EEG measurements in an innovative way, we show that production planning processes start as soon as possible, that is, within half a second after the answer to a question can be retrieved (up to several seconds before the end of the question). Localization of ERP data shows early activation even of brain areas related to late stages of production planning (e.g., syllabification). Finally, oscillation results suggest an attention switch from comprehension to production around the same time frame. This perspective from interactive language use throws new light on the performance characteristics that language competence involves.

Abstract

In conversation, negative responses to invitations, requests, offers, and the like are more likely to occur with a delay – conversation analysts talk of them as dispreferred. Here we examine the contrastive cognitive load ‘yes’ and ‘no’ responses make, either when relatively fast (300 ms after question offset) or delayed (1000 ms). Participants heard short dialogues contrasting in speed and valence of response while having their EEG recorded. We found that a fast ‘no’ evokes an N400-effect relative to a fast ‘yes’; however this contrast disappeared in the delayed responses. 'No' responses however elicited a late frontal positivity both if they were fast and if they were delayed. We interpret these results as follows: a fast ‘no’ evoked an N400 because an immediate response is expected to be positive – this effect disappears as the response time lengthens because now in ordinary conversation the probability of a ‘no’ has increased. However, regardless of the latency of response, a ‘no’ response is associated with a late positivity, since a negative response is always dispreferred. Together these results show that negative responses to social actions exact a higher cognitive load, but especially when least expected, in immediate response.

Abstract

Variation in plasma levels of cortisol, an essential hormone in the stress response, is associated in population-based studies with cardio-metabolic, inflammatory and neuro-cognitive traits and diseases. Heritability of plasma cortisol is estimated at 30-60% but no common genetic contribution has been identified. The CORtisol NETwork (CORNET) consortium undertook genome wide association meta-analysis for plasma cortisol in 12,597 Caucasian participants, replicated in 2,795 participants. The results indicate that <1% of variance in plasma cortisol is accounted for by genetic variation in a single region of chromosome 14. This locus spans SERPINA6, encoding corticosteroid binding globulin (CBG, the major cortisol-binding protein in plasma), and SERPINA1, encoding α1-antitrypsin (which inhibits cleavage of the reactive centre loop that releases cortisol from CBG). Three partially independent signals were identified within the region, represented by common SNPs; detailed biochemical investigation in a nested sub-cohort showed all these SNPs were associated with variation in total cortisol binding activity in plasma, but some variants influenced total CBG concentrations while the top hit (rs12589136) influenced the immunoreactivity of the reactive centre loop of CBG. Exome chip and 1000 Genomes imputation analysis of this locus in the CROATIA-Korcula cohort identified missense mutations in SERPINA6 and SERPINA1 that did not account for the effects of common variants. These findings reveal a novel common genetic source of variation in binding of cortisol by CBG, and reinforce the key role of CBG in determining plasma cortisol levels. In turn this genetic variation may contribute to cortisol-associated degenerative diseases.

Abstract

Hierarchical predictive coding has been identified as a possible unifying principle of brain function, and recent work in cognitive neuroscience has examined how it may be affected by age–related changes. Using language comprehension as a test case, the present study aimed to dissociate age-related changes in prediction generation versus internal model adaptation following a prediction error. Event-related brain potentials (ERPs) were measured in a group of older adults (60–81 years; n = 40) as they read sentences of the form “The opposite of black is white/yellow/nice.” Replicating previous work in young adults, results showed a target-related P300 for the expected antonym (“white”; an effect assumed to reflect a prediction match), and a graded N400 effect for the two incongruous conditions (i.e. a larger N400 amplitude for the incongruous continuation not related to the expected antonym, “nice,” versus the incongruous associated condition, “yellow”). These effects were followed by a late positivity, again with a larger amplitude in the incongruous non-associated versus incongruous associated condition. Analyses using linear mixed-effects models showed that the target-related P300 effect and the N400 effect for the incongruous non-associated condition were both modulated by age, thus suggesting that age-related changes affect both prediction generation and model adaptation. However, effects of age were outweighed by the interindividual variability of ERP responses, as reflected in the high proportion of variance captured by the inclusion of by-condition random slopes for participants and items. We thus argue that – at both a neurophysiological and a functional level – the notion of general differences between language processing in young and older adults may only be of limited use, and that future research should seek to better understand the causes of interindividual variability in the ERP responses of older adults and its relation to cognitive performance.

Abstract

Disfluencies, such as uh and uhm, are known to help the listener in speech comprehension. For instance, disfluencies may elicit prediction of less accessible referents and may trigger listeners’ attention to the following word. However, recent work suggests differential processing of disfluencies in native and non-native speech. The current study investigated whether the beneficial effects of disfluencies on listeners’ attention are modulated by the (non-)native identity of the speaker. Using the Change Detection Paradigm, we investigated listeners’ recall accuracy for words presented in disfluent and fluent contexts, in native and non-native speech. We observed beneficial effects of both native and non-native disfluencies on listeners’ recall accuracy, suggesting that native and non-native disfluencies trigger listeners’ attention in a similar fashion.

Abstract

Speech comprehension involves extensive use of prediction. Linguistic prediction may be guided by the semantics or syntax, but also by the performance characteristics of the speech signal, such as disfluency. Previous studies have shown that listeners, when presented with the filler uh, exhibit a disfluency bias for discourse-new or unknown referents, drawing inferences about the source of the disfluency. The goal of the present study is to study the contrast between native and non-native disfluencies in speech comprehension. Experiment 1 presented listeners with pictures of high-frequency (e.g., a hand) and low-frequency objects (e.g., a sewing machine) and with fluent and disfluent instructions. Listeners were found to anticipate reference to low-frequency objects when encountering disfluency, thus attributing disfluency to speaker trouble in lexical retrieval. Experiment 2 showed that, when participants listened to disfluent non-native speech, no anticipation of low-frequency referents was observed. We conclude that listeners can adapt their predictive strategies to the (non-native) speaker at hand, extending our understanding of the role of speaker identity in speech comprehension.

Abstract

Speech perception involves a number of processes that deal with variation in the speech signal. One such process is normalization for speechrate: local temporal cues are perceived relative to the rate in the surrounding context. It is as yet unclear whether and how this perceptual effect interacts with higher level impressions of rate, such as a speaker’s nonnative identity. Nonnative speakers typically speak more slowly than natives, an experience that listeners take into account when explicitly judging the rate of nonnative speech. The present study investigated whether this is also reflected in implicit rate normalization. Results indicate that nonnative speech is implicitly perceived as faster than temporally-matched native speech, suggesting that the additional cognitive load of listening to an accent speeds up rate perception. Therefore, rate perception in speech is not dependent on syllable durations alone but also on the ease of processing of the temporal signal.

Abstract

Where native speakers supposedly are fluent by default, non-native speakers often have to strive hard to achieve a native-like fluency level. However, disfluencies (such as pauses, fillers, repairs, etc.) occur in both native and non-native speech and it is as yet unclear ow luency raters weigh the fluency characteristics of native and non-native speech. Two rating experiments compared the way raters assess the luency of native and non-native speech. The fluency characteristics of native and non- native speech were controlled by using phonetic anipulations in pause (Experiment 1) and speed characteristics (Experiment 2). The results show that the ratings on manipulated native and on-native speech were affected in a similar fashion. This suggests that there is no difference in the way listeners weigh the fluency haracteristics of native and non-native speakers.

Abstract

Disfluency is a common characteristic of spontaneously produced speech. Disfluencies (e.g., silent pauses, filled pauses [uh’s and uhm’s], corrections, repetitions, etc.) occur in both native and non-native speech. There appears to be an apparent contradiction between claims from the evaluative and cognitive approach to fluency. On the one hand, the evaluative approach shows that non-native disfluencies have a negative effect on listeners’ subjective fluency impressions. On the other hand, the cognitive approach reports beneficial effects of native disfluencies on cognitive processes involved in speech comprehension, such as prediction and attention.

This dissertation aims to resolve this apparent contradiction by combining the evaluative and cognitive approach. The reported studies target both the evaluation (Chapters 2 and 3) and the processing of fluency (Chapters 4 and 5) in native and non-native speech. Thus, it provides an integrative account of native and non-native fluency perception, informative to both language testing practice and cognitive psycholinguists. The proposed account of fluency perception testifies to the notion that speech performance matters: communication through spoken language does not only depend on what is said, but also on how it is said and by whom.

Abstract

Relational grammar was proposed in Suppes (1976) as a semantical grammar for natural language. Fragments considered so far are restricted to distributive notions. In this article, relational grammar is extended to collective notions.

Abstract

The notion of relational grammar is extented to ternary relations and illustrated by a fragment of English. Some of Peirce's terms for ternary relations are shown to be incorrect and corrected.

Abstract

This paper introduces the EU-FP7 project CLARIN, a joint effort of over 150 institutions in Europe, aimed at the creation of a sustainable language resources and technology infrastructure for the humanities and social sciences research community. The paper briefly introduces the vision behind the project and how it relates to speech research with a focus on the contributions that CLARIN can and will make to research in spoken language processing.

Abstract

This study explores how adults and children describe placement events (e.g., putting a book on a table) in a range of different languages (Finnish, English, German, Russian, Hindi, Tzeltal Maya, Spanish, and Turkish). Results show that the eight languages grammatically encode placement events in two main ways (Talmy, 1985, 1991), but further investigation reveals fine-grained crosslinguistic variation within each of the two groups. Children are sensitive to these finer-grained characteristics of the input language at an early age, but only when such features are perceptually salient. Our study demonstrates that a unitary notion of 'event' does not suffice to characterize complex but systematic patterns of event encoding crosslinguistically, and that children are sensitive to multiple influences, including the distributional properties of the target language, in constructing these patterns in their own speech.

Abstract

This task is designed to elicit expressions of spatial relations. It was originally designed by Melissa Bowerman for use with young children, but was then developed further by Bowerman in collaboration with Pederson for crosslinguistic comparison. It has been used in fieldsites all over the world and is commonly known as “BowPed” or “TPRS”. Older incarnations did not always come with instructions. This entry includes a one-page instruction sheet and high quality versions of the original pictures.

Abstract

This entry suggests ways to elicit descriptions of caused motion involving topological relations (the domain of English put IN/ON/TOGETHER, take OUT/OFF/APART, etc.). There is a large amount of cross-linguistic variation in this domain. The tasks outlined here address matters such as the division of labor between the various elements of spatial semantics in the sentence. For example, is most of the work of expressing PATH done in a locative marker, or in the verb, or both?

Abstract

The precursor to the Bowped stimuli, this entry suggests various spatial configurations to explore using real objects, rather than the line drawings used in Bowped.

Abstract

Reprinted from: Bowerman, M. (1990). Mapping thematic roles onto syntactic functions: Are children helped by innate linking rules? Linguistics, 28, 1253-1289.

Abstract

This study reports three experiments on how children learning Mandarin Chinese comprehend and use aspect markers. These experiments examine the role of lexical aspect in children's acquisition of grammatical aspect. Results provide converging evidence for children's early sensitivity to (1) the association between atelic verbs and the imperfective aspect markers zai, -zhe, and -ne, and (2) the association between telic verbs and the perfective aspect marker -le. Children did not show a sensitivity in their use or understanding of aspect markers to the difference between stative and activity verbs or between semelfactive and activity verbs. These results are consistent with Slobin's (1985) basic child grammar hypothesis that the contrast between process and result is important in children's early acquisition of temporal morphology. In contrast, they are inconsistent with Bickerton's (1981, 1984) language bioprogram hypothesis that the distinctions between state and process and between punctual and nonpunctual are preprogrammed into language learners. We suggest new ways of looking at the results in the light of recent probabilistic hypotheses that emphasize the role of input, prototypes and connectionist representations.

Abstract

This study investigated pronunciation variants of word-final obstruent-liquid-schwa (OLS) clusters in casual French and the variables predicting the absence of the phonemes in these clusters. In a dataset of 291 noun tokens extracted from a corpus of casual conversations, we observed that in 80.7% of the tokens, at least one phoneme was absent and that in no less than 15.5% the whole cluster was absent (e.g., /mis/ for ministre). Importantly, the probability of a phoneme being absent was higher if the following phoneme was absent as well. These data show that reduction can affect several phonemes at once and is not restricted to just a handful of (function) words. Moreover, our results demonstrate that the absence of each single phoneme is affected by the speaker's tendency to increase ease of articulation and to adapt a word's pronunciation variant to the time available.

Abstract

In numerous comprehension studies, across different languages, children have performed worse on object relatives (e.g., the dog that the cat chased) than on subject relatives (e.g., the dog that chased the cat). One possible reason for this is that the test sentences did not exactly match the kinds of object relatives that children typically experience. Adults and children usually hear and produce object relatives with inanimate heads and pronominal subjects (e.g., the car that we bought last year) (cf. Kidd et al., Language and Cognitive Processes 22: 860–897, 2007). We tested young 3-year old German- and English-speaking children with a referential selection task. Children from both language groups performed best in the condition where the experimenter described inanimate referents with object relatives that contained pronominal subjects (e.g., Can you give me the sweater that he bought?). Importantly, when the object relatives met the constraints identified in spoken discourse, children understood them as well as subject relatives, or even better. These results speak against a purely structural explanation for children's difficulty with object relatives as observed in previous studies, but rather support the usage-based account, according to which discourse function and experience with language shape the representation of linguistic structures.

Abstract

It has been fifty years since Levelt’s monograph On Binocular Rivalry (1965) was published, but its four propositions that describe the relation between stimulus strength and the phenomenology of binocular rivalry remain a benchmark for theorists and experimentalists even today. In this review, we will revisit the original conception of the four propositions and the scientific landscape in which this happened. We will also provide a brief update concerning distributions of dominance durations, another aspect of Levelt’s monograph that has maintained a prominent presence in the field. In a critical evaluation of Levelt’s propositions against current knowledge of binocular rivalry we will then demonstrate that the original propositions are not completely compatible with what is known today, but that they can, in a straightforward way, be modified to encapsulate the progress that has been made over the past fifty years. The resulting modified, propositions are shown to apply to a broad range of bistable perceptual phenomena, not just binocular rivalry, and they allow important inferences about the underlying neural systems. We argue that these inferences reflect canonical neural properties that play a role in visual perception in general, and we discuss ways in which future research can build on the work reviewed here to attain a better understanding of these properties

Abstract

Automated processing of large amounts of scientific data, especially across domains, requires that the data can be selected and parsed without human intervention. Precise characterization of that data, as in typing, is needed once the processing goes beyond the realm of domain specific or local research group assumptions. The Research Data Alliance (RDA) Data Type Registries Working Group (DTR-WG) was assembled to address this issue through the creation of a Data Type Registry methodology, data model, and prototype. The WG was approved by the RDA Council during March of 2013 and will complete its work in mid-2014, in between the third and fourth RDA Plenaries.

Abstract

Within the ISLE Metadata Initiative (IMDI) project a user-friendly editor to enter metadata descriptions and a browser operating on the linked metadata descriptions were developed. Both tools support the usage of Controlled Vocabulary (CV) repositories by means of the specification of an URL where the formal CV definition data is available.

Abstract

The recent increase in the number and complexity of the language resources available on the Internet is followed by a similar increase of available tools for linguistic analysis. Ideally the user does not need to be confronted with the question in how to match tools with resources. If resource repositories and tool repositories offer adequate metadata information and a suitable exchange protocol is developed this matching process could be performed (semi-) automatically.

Abstract

Native speakers of Dutch with English as a second language and native speakers of English participated in an English lexical decision experiment. Phonemes in real words were replaced by others from which they are hard to distinguish for Dutch listeners. Non-native listeners judged the resulting near-words more often as a word than native listeners. This not only happened when the phonemes that were exchanged did not exist as separate phonemes in the native language Dutch, but also when phoneme pairs that do exist in Dutch were used in word-final position, where they are not distinctive in Dutch. In an English bimodal priming experiment with similar groups of participants, word pairs were used which differed in one phoneme. These phonemes were hard to distinguish for the non-native listeners. Whereas in native listening both words inhibited each other, in non-native listening presentation of one word led to unresolved competition between both words. The results suggest that inaccurate phoneme processing by non-native listeners leads to the activation of spurious lexical competitors.

Abstract

This study examined the influence of background language variation on speech recognition. English listeners performed an English sentence recognition task in either “pure” background conditions in which all trials had either English or Dutch background babble or in mixed background conditions in which the background language varied across trials (i.e., a mix of English and Dutch or one of these background languages mixed with quiet trials). This design allowed the authors to compare performance on identical trials across pure and mixed conditions. The data reveal that speech-in-speech recognition is sensitive to contextual variation in terms of the target-background language (mis)match depending on the relative ease/difficulty of the test trials in relation to the surrounding trials.

Abstract

We employed a parametric psychophysical design in combination with functional imaging to examine the influence of metric changes in perceptual incongruence on perceptual alternation rates and cortical responses. Subjects viewed a bistable stimulus defined by incongruent depth cues; bistability resulted from incongruence between binocular disparity and monocular perspective cues that specify different slants (slant rivalry). Psychophysical results revealed that perceptual alternation rates were positively correlated with the degree of perceived incongruence. Functional imaging revealed systematic increases in activity that paralleled the psychophysical results within anterior intraparietal sulcus, prior to the onset of perceptual alternations. We suggest that this cortical activity predicts the frequency of subsequent alternations, implying a putative causal role for these areas in initiating bistable perception. In contrast, areas implicated in form and depth processing (LOC and V3A) were sensitive to the degree of slant, but failed to show increases in activity when these cues were in conflict.

Abstract

The aim of the present study was to investigate whether speech-in-speech recognition is affected by variation in the target-background timing relationship. Specifically, we examined whether within trial synchronous or asynchronous onset and offset of the target and background speech influenced speech-in-speech recognition. Native English listeners were presented with English target sentences in the presence of English or Dutch background speech. Importantly, only the short-term temporal context –in terms of onset and offset synchrony or asynchrony of the target and background speech– varied across conditions. Participants’ task was to repeat back the English target sentences. The results showed an effect of synchronicity for English-in-English but not for English-in-Dutch recognition, indicating that familiarity with the English background lead in the asynchronous English-in-English condition might have attracted attention towards the English background. Overall, this study demonstrated that speech-in-speech recognition is sensitive to the target-background timing relationship, revealing an important role for variation in the local context of the target-background relationship as it extends beyond the limits of the time-frame of the to-be-recognized target sentence.

Abstract

This study examined the temporal dynamics of spoken word recognition in noise and background speech. In two visual-world experiments, English participants listened to target words while looking at four pictures on the screen: a target (e.g. candle), an onset competitor (e.g. candy), a rhyme competitor (e.g. sandal), and an unrelated distractor (e.g. lemon). Target words were presented in quiet, mixed with broadband noise, or mixed with background speech. Results showed that lexical competition changes throughout the observation window as a function of what is presented in the background. These findings suggest that, rather than being strictly sequential, stream segregation and lexical competition interact during spoken word recognition

Abstract

A major finding in studies of early vocabulary acquisition has been that children tend to learn a lot of nouns early but make do with relatively few verbs, among which semantically general-purpose verbs like do, make, get, have, give, come, go, and be play a prominent role. The preponderance of nouns is explained in terms of nouns labelling concrete objects beings “easier” to learn than verbs, which label relational categories. Nouns label “natural categories” observable in the world, verbs label more linguistically and culturally specific categories of events linking objects belonging to such natural categories (Gentner 1978, 1982; Clark 1993). This view has been challenged recently by data from children learning certain non-Indo-European languges like Korean, where children have an early verb explosion and verbs dominate in early child utterances. Children learning the Mayan language Tzeltal also acquire verbs early, prior to any noun explosion as measured by production. Verb types are roughly equivalent to noun types in children’s beginning production vocabulary and soon outnumber them. At the one-word stage children’s verbs mostly have the form of a root stripped of affixes, correctly segmented despite structural difficulties. Quite early (before the MLU 2.0 point) there is evidence of productivity of some grammatical markers (although they are not always present): the person-marking affixes cross-referencing core arguments, and the completive/incompletive aspectual distinctions. The Tzeltal facts argue against a natural-categories explanation for childre’s early vocabulary, in favor of a view emphasizing the early effects of language-specific properties of the input. They suggest that when and how a child acquires a “verb” category is centrally influenced by the structural properties of the input, and that the semantic structure of the language - where the referential load is concentrated - plays a fundamental role in addition to distributional facts.

Abstract

When Tzeltal children in the Mayan community of Tenejapa, in southern Mexico, begin speaking, their production vocabulary consists predominantly of verb roots, in contrast to the dominance of nouns in the initial vocabulary of first‐language learners of Indo‐European languages. This article proposes that a particular Tzeltal conversational feature—known in the Mayanist literature as "dialogic repetition"—provides a context that facilitates the early analysis and use of verbs. Although Tzeltal babies are not treated by adults as genuine interlocutors worthy of sustained interaction, dialogic repetition in the speech the children are exposed to may have an important role in revealing to them the structural properties of the language, as well as in socializing the collaborative style of verbal interaction adults favor in this community.

Abstract

The surge of research activity focussing on children's acquisition of verbs (e.g., Tomasello and Merriman 1996) addresses some fundamental questions: Just how variable across languages, and across individual children, is the process of verb learning? How specific are arguments to particular verbs in early child language? How does the grammatical category 'Verb' develop? The position of Universal Grammar, that a verb category is early, contrasts with that of Tomasello (1992), Pine and Lieven and their colleagues (1996, in press), and many others, that children develop a verb category slowly, gradually building up subcategorizations of verbs around pragmatic, syntactic, and semantic properties of the language they are exposed to. On this latter view, one would expect the language which the child is learning, the cultural milieu and the nature of the interactions in which the child is engaged, to influence the process of acquiring verb argument structures. This paper explores these issues by examining the development of argument representation in the Mayan language Tzeltal, in both its lexical and verbal cross-referencing forms, and analyzing the semantic and pragmatic factors influencing the form argument representation takes. Certain facts about Tzeltal (the ergative/ absolutive marking, the semantic specificity of transitive and positional verbs) are proposed to affect the representation of arguments. The first 500 multimorpheme combinations of 3 children (aged between 1;8 and 2;4) are examined. It is argued that there is no evidence of semantically light 'pathbreaking' verbs (Ninio 1996) leading the way into word combinations. There is early productivity of cross-referencing affixes marking A, S, and O arguments (although there are systematic omissions). The paper assesses the respective contributions of three kinds of factors to these results - structural (regular morphology), semantic (verb specificity) and pragmatic (the nature of Tzeltal conversational interaction).

Abstract

A study is presented on the effects of discourse–semantic and lexical–syntactic information during spoken sentence processing. Event-related brain potentials (ERPs) were registered while subjects listened to discourses that ended in a sentence with a temporary syntactic ambiguity. The prior discourse–semantic information biased toward one analysis of the temporary ambiguity, whereas the lexical-syntactic information allowed only for the alternative analysis. The ERP results show that discourse–semantic information can momentarily take precedence over syntactic information, even if this violates grammatical gender agreement rules.

Abstract

Two experiments are reported that provide evidence on task-induced effects during
visual lexical processing in a primetarget semantic priming paradigm. The research focuses on target expectancy effects by manipulating the proportion of semantically related and unrelated word pairs. In Experiment 1, a lexical decision task was used and reaction times (RTs) and event-related brain potentials (ERPs) were obtained. In Experiment 2, subjects silently read the stimuli, without any additional task demands, and ERPs were recorded. The RT and ERP results of Experiment 1 demonstrate that an expectancy mechanism contributed to the priming effect when a high proportion of related word pairs was presented. The ERP results of Experiment 2 show that in the absence of extraneous task requirements, an expectancy mechanism is not active. However, a standard ERP semantic priming effect was obtained in Experiment 2. The combined results show that priming effects due to relatedness proportion are induced by task demands and are not a standard aspect of online lexical processing.

Abstract

How are events framed in narrative? Speakers of English (a 'satellite-framed' language), when 'reading' Mercer Mayer's wordless picture book 'Frog, Where Are You?', find the story self-evident: a boy has a dog and a pet frog; the frog escapes and runs away; the boy and dog look for it across hill and dale, through woods and over a cliff, until they find it and return home with a baby frog child of the original pet frog. In Tzeltal, as spoken in a Mayan community in southern Mexico, the story is somewhat different, because the language structures event descriptions differently. Tzeltal is in part a 'verb-framed' language with a set of Path-encoding motion verbs, so that the bare bones of the Frog story can consist of verbs translating as 'go'/'pass by'/'ascend'/ 'descend'/ 'arrive'/'return'. But Tzeltal also has satellite-framing adverbials, grammaticized from the same set of motion verbs, which encode the direction of motion or the orientation of static arrays. Furthermore, vivid pictorial detail is provided by positional verbs which can describe the position of the Figure as an outcome of a motion event; motion and stasis are thereby combined in a single event description. (For example:  jipot jawal "he has been thrown (by the deer) lying­_face_upwards_spread-eagled". This paper compares the use of these three linguistic resources in Frog Story narratives from  Tzeltal adults and children, looks at their development in the narratives of children, and considers the results in relation to those from Berman and Slobin's (1996) comparative study of adult and child Frog stories.

Abstract

From the perspective of a Kantian belief in the fundamental human tendency to cleave space along the three planes of the human body, Tenejapan Tzeltal exhibits a linguistic gap: there are no linguistic expressions that designate regions (as in English to my left) or describe the visual field (as in to the left of the tree) on the basis of a plane bisecting the body into a left and right side. Tenejapans have expressions for left and right hands (xin k'ab and wa'el k'ab), but these are basically body-part terms, they are not generalized to form a division of space. This paper describes the results of various elicited producton tasks in which concepts of left and right would provide a simple solution, showing that Tenejapan consultants use other notions even when the relevant linguistic distinctions could be made in Tzeltal (e.g. describing the position of one's limbs, or describing rotation of one's body). Instead of using the left-hand/right-hand distinction to construct a division of space, Tenejapans utilize a number of other systems: (i) an absolute, 'cardinal direction' system, supplemented by reference to other geographic or landmark directions, (ii) a generative segmentation of objects and places into analogic body-parts or other kinds of parts, and (iii) a rich system of positional adjectives to describe the exact disposition of things. These systems work conjointly to specify locations with precision and elegance. The overall system is not primarily egocentric, and it makes no essential reference to planes through the human body.

Abstract

In a famous paper Harvey Sacks (1974) argued that the sequential properties of greeting conventions, as well as those governing the flow of information, mean that 'everyone has to lie'. In this paper I show this dictum to be equally true in the Tzeltal Mayan community of Tenejapa, in southern Mexico, but for somewhat different reasons. The phenomenon of interest is the practice of routine fearsome threats to small children. Based on a longitudinal corpus of videotaped and tape-recorded naturally-occurring interaction between caregivers and children in five Tzeltal families, the study examines sequences of Tzeltal caregivers' speech aimed at controlling the children's behaviour and analyzes the children's developing pragmatic skills in handling such controlling utterances, from prelinguistic infants to age five and over. Infants in this society are considered to be vulnerable, easily scared or shocked into losing their 'souls', and therefore at all costs to be protected and hidden from outsiders and other dangers. Nonetheless, the chief form of control (aside from physically removing a child from danger) is to threaten, saying things like "Don't do that, or I'll take you to the clinic for an injection," These overt scare-threats - rarely actually realized - lead Tzeltal children by the age of 2;6 to 3;0 to the understanding that speech does not necessarily convey true propositions, and to a sensitivity to the underlying motivations for utterances distinct from their literal meaning. By age 4;0 children perform the same role to their younger siblings;they also begin to use more subtle non-true (e.g. ironic) utterances. The caretaker practice described here is related to adult norms of social lying, to the sociocultural context of constraints on information flow, social control through gossip, and the different notion of 'truth' that arises in the context of non-verifiability characteristic of a small-scale nonliterate society.

Abstract

This paper surveys the concept of culture as used in recent work in cognitive science, assessing the very different (and sometimes minimal) role 'culture' plays in different branches and schools of linguistics: generative approaches, descriptive/comparative linguistics, typology, cognitive linguistics, semantics, pragmatics, psycholinguistics, linguistic and cognitive anthropology. The paper then describes research on one specific topic, spatial language and conceptualization, describes a methodology for studying it cross-linguistically and cross-culturally. Finally, it considers the implications of results in this area for how we can fruitfully conceptualize 'culture', arguing for an approach which shifts back and forth between individual mind and collective representations, between universals and particulars, and ties 'culture' to our biological roots.

Abstract

The systematic study of kinesics, gaze, and gestural aspects of communication in Central American cultures is a recent phenomenon, most of it focussing on the Mayan cultures of southern Mexico, Guatemala, and Belize. This article surveys ethnographic observations and research reports on bodily aspects of speaking in three domains: gaze and kinesics in social interaction, indexical pointing in adult and caregiver-child interactions, and co-speech gestures associated with “absolute” (geographically-based) systems of spatial reference. In addition, it reports how the indigenous co-speech gesture repertoire has provided the basis for developing village sign languages in the region. It is argued that studies of the embodied aspects of speech in the Mayan areas of Mexico and Central America have contributed to the typology of gestures and of spatial frames of reference. They have refined our understanding of how spatial frames of reference are invoked, communicated, and switched in conversational interaction and of the importance of co-speech gestures in understanding language use, language acquisition, and the transmission of culture-specific cognitive styles.

Abstract

This is a Spanish translation of Brown 1997.

Abstract

Speakers of the Mayan language Tzeltal use two frames of reference for spatial reckoning: an absolute system (based on the south/north axis abstracted from the overall slope of the land) and an intrinsic system utilizing spatial axes of the reference object to establish body parts. This paper examines the use of absolute, intrinsic, and landmark cues in descriptions of spatial relations by 22 pairs of Tzeltal children aged between 5 and 17. The data are drawn from interactive space games, where a Director describes a spatial layout in a photo and the Matcher reproduces it with toys. The paper distinguishes use of ad hoc landmarks ('Red Cliffs', 'the electricity post') from genuine absolute reference points ('uphill'/'downhill'/’across’), and shows that adults in this task use absolute ('cow uphill of horse'), intrinsic ('at the tree's side') and landmark ('cow facing Red Cliffs') descriptions to communicate the spatial relations depicted. The youngest children, however, do not use landmark cues at all but rely instead on deictics and on the absolute 'uphill/downhill' terms; landmark terms are still rare at age 8-10. Despite arguments that landmarks are a simpler, more natural, basis for spatial reckoning than absolute terms, there is no evidence for a developmental progression from landmark-based to absolute-based strategies. We relate these observations to Slobin’s ‘thinking for speaking’ argument.

Abstract

How do children isolate the semantic package contained in verb roots in the Mayan language Tzeltal? One might imagine that the canonical CVC shape of roots characteristic of Mayan languages would make the job simple, but the root is normally preceded and followed by affixes which mask its identity. Pye (1983) demonstrated that, in Kiche' Mayan, prosodic salience overrides semantic salience, and children's first words in Kiche' are often composed of only the final (stressed) syllable constituted by the final consonant of the CVC root and a 'meaningless' termination suffix. Intonation thus plays a crucial role in early Kiche' morphological development. Tzeltal presents a rather different picture: The first words of children around the age of 1;6 are bare roots, children strip off all prefixes and suffixes which are obligatory in adult speech. They gradually add them, starting with the suffixes (which receive the main stress), but person prefixes are omitted in some contexts past a child's third birthday, and one obligatory aspectual prefix (x-) is systematically omitted by the four children in my longitudinal study even after they are four years old. Tzeltal children's first verbs generally show faultless isolation of the root. An account in terms of intonation or stress cannot explain this ability (the prefixes are not all syllables; the roots are not always stressed). This paper suggests that probable clues include the fact that the CVC root stays constant across contexts (with some exceptions) whereas the affixes vary, that there are some linguistic contexts where the root occurs without any prefixes (relatively frequent in the input), and that the Tzeltal discourse convention of responding by repeating with appropriate deictic alternation (e.g., "I see it." "Oh, you see it.") highlights the root.

Abstract

This article is a reprint of chapter 1, the introduction to Brown and Levinson, 1987, Politeness: Some universals in language usage (Cambridge University Press).

Abstract

This paper addresses the theories of Eve Clark about how children learn word meanings in western middle-class interactional contexts by examining child language data from a Tzeltal Maya society in southern Mexico where interaction patterns are radically different. Through examples of caregiver interactions with children 12-30 months old, I ask what lessons we can learn from how the details of these interactions unfold in this non-child-centered cultural context, and specifically, what aspects of the Tzeltal linguistic and interactional context might help to focus children’s attention on the meanings and the conventional forms of words being used around them.

Abstract

Speaking begins with the formulation of an intended preverbal message and linguistic encoding of this information. The transition from thought to speech occurs incrementally, with cascading planning at subsequent levels of production. In this article, we aim to specify the mechanisms that support incremental message preparation. We contrast two hypotheses about the mechanisms responsible for incorporating message-level information into a linguistic plan. According to the Initial Preparation view, messages can be encoded as fluent utterances if all information is ready before speaking begins. By contrast, on the Continuous Incrementality view, messages can be continually prepared and updated throughout the production process, allowing for fluent production even if new information is added to the message while speaking is underway. Testing these hypotheses, eye-tracked speakers in two experiments produced unscripted, conjoined noun phrases with modifiers. Both experiments showed that new message elements can be incrementally incorporated into the utterance even after articulation begins, consistent with a Continuous Incrementality view of message planning, in which messages percolate to linguistic encoding immediately as that information becomes available in the mind of the speaker. We conclude by discussing the functional role of incremental message planning in conversational speech and the situations in which this continuous incremental planning would be most likely to be observed

Abstract

Genes of the Major Histocompatibility Complex (MHC) have recently been shown to have neuronal functions in the thalamus and hippocampus. Common genetic variants in the Human Leukocyte Antigens (HLA) region, human homologue of the MHC locus, are associated with small effects on susceptibility to schizophrenia, while volumetric changes of the thalamus and hippocampus have also been linked to schizophrenia. We therefore investigated whether common variants of the HLA would affect volumetric variation of the thalamus and hippocampus. We analyzed thalamus and hippocampus volumes, as measured using structural magnetic resonance imaging, in 1.265 healthy participants. These participants had also been genotyped using genome-wide single nucleotide polymorphism (SNP) arrays. We imputed genotypes for single nucleotide polymorphisms at high density across the HLA locus, as well as HLA allotypes and HLA amino acids, by use of a reference population dataset that was specifically targeted to the HLA region. We detected a significant association of the SNP rs17194174 with thalamus volume (nominal P=0.0000017, corrected P=0.0039), as well as additional SNPs within the same region of linkage disequilibrium. This effect was largely lateralized to the left thalamus and is localized within a genomic region previously associated with schizophrenia. The associated SNPs are also clustered within a potential regulatory element, and a region of linkage disequilibrium that spans genes expressed in the thalamus, including HLA-A. Our data indicate that genetic variation within the HLA region influences the volume and asymmetry of the human thalamus. The molecular mechanisms underlying this association may relate to HLA influences on susceptibility to schizophrenia

Abstract

The Noir Marron are the direct descendants of thousands of African slaves deported to the Guyanas during the Atlantic Slave Trade and later escaped mainly from Dutch colonial plantations. Six ethnic groups are officially recognized, four of which are located in French Guyana: the Aluku, the Ndjuka, the Saramaka, and the Paramaka. The aim of this study was: (1) to determine the Noir Marron settlement through genetic exchanges with other communities such as Amerindians and Europeans; (2) to retrace their origins in Africa. Buffy-coat DNA from 142 Noir Marron, currently living in French Guyana, were analyzed using mtDNA (typing of SNP coding regions and sequencing of HVSI/II) and Y chromosomes (typing STR and SNPs) to define their genetic profile. Results were compared to an African database composed by published data, updated with genotypes of 82 Fon from Benin, and 128 Ahizi and 63 Yacouba from the Ivory-Coast obtained in this study for the same markers. Furthermore, the determination of the genomic subtype of HTLV-1 strains (env gp21 and LTR regions), which can be used as a marker of migration of infected populations, was performed for samples from 23 HTLV-1 infected Noir Marron and compared with the corresponding database. MtDNA profiles showed a high haplotype diversity, in which 99% of samples belonged to the major haplogroup L, frequent in Africa. Each haplotype was largely represented on the West African coast, but notably higher homologies were obtained with the samples present in the Gulf of Guinea. Y Chromosome analysis revealed the same pattern, i.e. a conservation of the African contribution to the Noir Marron genetic profile, with 98% of haplotypes belonging to the major haplogroup E1b1a, frequent in West Africa. The genetic diversity was higher than those observed in African populations, proving the large Noir Marron’s fatherland, but a predominant identity in the Gulf of Guinea can be suggested. Concerning HTLV-1 genotyping, all the Noir Marron strains belonged to the large Cosmopolitan A subtype. However, among them 17/23 (74%) clustered with the West African clade comprizing samples originating from Ivory-Coast, Ghana, Burkina-Fasso and Senegal, while 3 others clustered in the Trans-Sahelian clade and the remaining 3 were similar to strains found in individuals in South America. Through the combined analyses of three approaches, we have provided a conclusive image of the genetic profile of the Noir Marron communities studied. The high degree of preservation of the African gene pool contradicts the expected gene flow that would correspond to the major cultural exchanges observed between Noir Marron, Europeans and Amerindians. Marital practices and historical events could explain these observations. Corresponding to historical and cultural data, the origin of the ethnic groups is widely dispatched throughout West Africa. However, all results converge to suggest an individualization from a major birthplace in the Gulf of Guinea.

Abstract

Epigenetic effects on psychiatric traits remain relatively under-studied, and it remains unclear what the sizes of individual epigenetic effects may be, or how they vary between different clinical populations. The gene LRRTM1 (chromosome 2p12) has previously been linked and associated with schizophrenia in a parent-of-origin manner in a set of affected siblings (LOD = 4.72), indirectly suggesting a disruption of paternal imprinting at this locus in these families. From the same set of siblings that originally showed strong linkage at this locus, we analyzed 99 individuals using 454-bisulfite sequencing, from whole blood DNA, to measure the level of DNA methylation in the promoter region of LRRTM1. We also assessed seven additional loci that would be informative to compare. Paternal identity-by-descent sharing at LRRTM1, within sibling pairs, was linked to their similarity of methylation at the gene's promoter. Reduced methylation at the promoter showed a significant association with schizophrenia. Sibling pairs concordant for schizophrenia showed more similar methylation levels at the LRRTM1 promoter than diagnostically discordant pairs. The alleles of common SNPs spanning the locus did not explain this epigenetic linkage, which can therefore be considered as largely independent of DNA sequence variation and would not be detected in standard genetic association analysis. Our data suggest that hypomethylation at the LRRTM1 promoter, particularly of the paternally inherited allele, was a risk factor for the development of schizophrenia in this set of siblings affected with familial schizophrenia, and that had previously showed linkage at this locus in an affected-sib-pair context.