Publications

Abstract

Background: Identifying age-related changes in cognition that contribute towards reduced driving performance is important for the development of interventions to improve older adults' driving and prolong the time that they can continue to drive. While driving, one is often required to switch from attending to events changing in time, to distribute attention spatially. Although there is extensive research into both spatial attention and temporal attention and how these change with age, the literature on switching between these modalities of attention is limited within any age group. Methods: Age groups (21-30, 40-49, 50-59, 60-69 and 70+ years) were compared on their ability to switch between detecting a target in a rapid serial visual presentation (RSVP) stream and detecting a target in a visual search display. To manipulate the cost of switching, the target in the RSVP stream was either the first item in the stream (Target 1st), towards the end of the stream (Target Mid), or absent from the stream (Distractor Only). Visual search response times and accuracy were recorded. Target 1st trials behaved as no-switch trials, as attending to the remaining stream was not necessary. Target Mid and Distractor Only trials behaved as switch trials, as attending to the stream to the end was required. Results: Visual search response times (RTs) were longer on "Target Mid" and "Distractor Only" trials in comparison to "Target 1st" trials, reflecting switch-costs. Larger switch-costs were found in both the 40-49 and 60-69 years group in comparison to the 21-30 years group when switching from the Target Mid condition. Discussion: Findings warrant further exploration as to whether there are age-related changes in the ability to switch between these modalities of attention while driving. If older adults display poor performance when switching between temporal and spatial attention while driving, then the development of an intervention to preserve and improve this ability would be beneficial. © 2017 Callaghan, Holland and Kessler.

Abstract

Humans are the only species that uses communication to teach new knowledge to novices, usually to children (Tomasello, 1999 and Csibra and Gergely, 2006). This context of communication can employ “demonstrations” and it takes place with or without the help of objects (Clark, 1996). Previous research has focused on understanding the nature of demonstrations for very young children and with objects involved. However, little is known about the strategies used in demonstrating an action to an older child in comparison to another adult and without the use of objects, i.e., with gestures only. We tested if during demonstration of an action speakers use different degrees of iconicity in gestures for a child compared to an adult. 18 Italian subjects described to a camera how to make coffee imagining the listener as a 12-year-old child, a novice or an expert adult. While speech was found more informative both for the novice adult and for the child compared to the expert adult, the rate of iconic gestures increased and they were more informative and bigger only for the child compared to both of the adult conditions. Iconicity in gestures can be a powerful communicative strategy in teaching new knowledge to children in demonstrations and this is in line with claims that it can be used as a scaffolding device in grounding knowledge in experience (Perniss et al., 2010).

Abstract

We call those gestures “instrumental” that can enhance certain thinking processes of an agent by offering him representational models of his actions in a virtual space of imaginary performative possibilities. We argue that pointing is an instrumental gesture in that it represents geometrical information on one’s own gaze direction (i.e., a spatial model for attentional/ocular fixation/orientation), and provides a ritualized template for initiating gaze coordination and joint attention. We counter two possible objections, asserting respectively that the representational content of pointing is not constitutive, but derived from language, and that pointing directly solicits gaze coordination, without representing it. We consider two studies suggesting that attention and spatial perception are actively modified by one’s own pointing activity: the first study shows that pointing gestures help children link sets of objects to their corresponding number words; the second, that adults are faster and more accurate in counting when they point.

Abstract

Madagascar is located at the crossroads of the Asian and African worlds and is therefore of particular interest for studies on human population migration. Within the large human diversity of the Great Island, we focused our study on a particular ethnic group, the Antemoro. Their culture presents an important Arab-Islamic influence, but the question of an Arab biological inheritance remains unresolved. We analyzed paternal (n=129) and maternal (n=135) lineages of this ethnic group. Although the majority of Antemoro genetic ancestry comes from sub-Saharan African and Southeast Asian gene pools, we observed in their paternal lineages two specific haplogroups (J1 and T1) linked to Middle Eastern origins. This inheritance was restricted to some Antemoro sub-groups. Statistical analyses tended to confirm significant Middle Eastern genetic contribution. This study gives a new perspective to the large human genetic diversity in Madagascar

Abstract

Knowing what is going to happen next, that is, the capacity to predict upcoming events, modulates the extent to which aversive stimuli induce stress and anxiety. We explored this issue by manipulating the temporal predictability of aversive events by means of a visual cue, which was either correlated or uncorrelated with pain stimuli (electric shocks). Subjects reported lower levels of anxiety, negative valence and pain intensity when shocks were predictable. In addition to attenuate focus on danger, predictability allows for correct temporal estimation of, and selective attention to, the sensory input. With functional magnetic resonance imaging, we found that predictability was related to enhanced activity in relevant sensory-discriminative processing areas, such as the primary and secondary sensory cortex and posterior insula. In contrast, the unpredictable more aversive context was correlated to brain activity in the anterior insula and the orbitofrontal cortex, areas associated with affective pain processing. This context also prompted increased activity in the posterior parietal cortex and lateral prefrontal cortex that we attribute to enhanced alertness and sustained attention during unpredictability.

Abstract

The present paper investigates the major derivational strategies underlying the formation of suffixed words in Italian, with the purpose of tackling the issue of their formalization. After having specified the theoretical cognitive premises that orient the work, the interacting component modules of the suffixation process, i.e. morphonology, morphotactics and affixal semantics, are explored empirically, by drawing ample naturally occurring data on a Corpus of written Italian. A special attention is paid to the semantic mechanisms that are involved into suffixation. Some semantic nuclei are identified for the major suffixed word types of Italian, which are due to word formation rules active at the synchronic level, and a semantic configuration of productive suffixes is suggested. A general framework is then sketched, which combines classical finite-state methods with a feature unification-based word grammar. More specifically, the semantic information specified for the affixal material is internalised into the structures of the Lexical Functional Grammar (LFG). The formal model allows us to integrate the various modules of suffixation. In particular, it treats, on the one hand, the interface between morphonology/morphotactics and semantics and, on the other hand, the interface between suffixation and inflection. Furthermore, since LFG exploits a hierarchically organised lexicon in order to structure the information regarding the affixal material, affixal co-selectional restrictions are advatageously constrained, avoiding potential multiple spurious analysis/generations.

Abstract

Real-time estimation of what we will do next is a crucial prerequisite
of purposive behavior. During the planning of goal-oriented actions, for
instance, the temporal and causal organization of upcoming subsequent
moves needs to be predicted based on our knowledge of events. A forward
computation of sequential structure is also essential for planning
contiguous discourse segments and syntactic patterns in language. The
neural encoding of sequential event knowledge and its domain dependency
is a central issue in cognitive neuroscience. Converging evidence shows
the involvement of a dedicated neural substrate, including the
prefrontal cortex and Broca's area, in the representation and the
processing of sequential event structure. After reviewing major
representational models of sequential mechanisms in action and language,
we discuss relevant neuropsychological and neuroimaging findings on the
temporal organization of sequencing and sequence processing in both
domains, suggesting that sequential event knowledge may be modularly
organized through prefrontal and frontal subregions.

Abstract

Language comprehension engages a distributed network of frontotemporal, parietal, and sensorimotor regions, but it is still unclear how meaning of words and their semantic relationships are represented and processed within these regions and to which degrees lexico-semantic representations differ between regions and semantic types. We used fMRI and representational similarity analysis to relate word-elicited multivoxel patterns to semantic similarity between action and object words. In left inferior frontal (BA 44-45-47), left posterior middle temporal and left precentral cortex, the similarity of brain response patterns reflected semantic similarity among action-related verbs, as well as across lexical classes-between action verbs and tool-related nouns and, to a degree, between action verbs and food nouns, but not between action verbs and animal nouns. Instead, posterior inferior temporal cortex exhibited a reverse response pattern, which reflected the semantic similarity among object-related nouns, but not action-related words. These results show that semantic similarity is encoded by a range of cortical areas, including multimodal association (e.g., anterior inferior frontal, posterior middle temporal) and modality-preferential (premotor) cortex and that the representational geometries in these regions are partly dependent on semantic type, with semantic similarity among action-related words crossing lexical-semantic category boundaries.

Abstract

Dyslexia is a common specific learning disability with a substantive genetic component. Several candidate genes have been proposed to be implicated in dyslexia susceptibility, such as DYX1C1, ROBO1, KIAA0319, and DCDC2. Associations with variants in these genes have also been reported with a variety of psychometric measures tapping into the underlying processes that might be impaired in dyslexic people. In this study, we first conducted a literature review to select single nucleotide polymorphisms (SNPs) in dyslexia candidate genes that had been repeatedly implicated across studies. We then assessed the SNPs for association in the richly phenotyped longitudinal data set from the Dutch Dyslexia Program. We tested for association with several quantitative traits, including word and nonword reading fluency, rapid naming, phoneme deletion, and nonword repetition. In this, we took advantage of the longitudinal nature of the sample to examine if associations were stable across four educational time-points (from 7 to 12 years). Two SNPs in the KIAA0319 gene were nominally associated with rapid naming, and these associations were stable across different ages. Genetic association analysis with complex cognitive traits can be enriched through the use of longitudinal information on trait development.

Abstract

Dyslexia is a highly heritable learning disorder with a complex underlying genetic architecture. Over the past decade, researchers have pinpointed a number of candidate genes that may contribute to dyslexia susceptibility. Here, we provide an overview of the state of the art, describing how studies have moved from mapping potential risk loci, through identification of associated gene variants, to characterization of gene function in cellular and animal model systems. Work thus far has highlighted some intriguing mechanistic pathways, such as neuronal migration, axon guidance, and ciliary biology, but it is clear that we still have much to learn about the molecular networks that are involved. We end the review by highlighting the past, present, and future contributions of the Dutch Dyslexia Programme to studies of genetic factors. In particular, we emphasize the importance of relating genetic information to intermediate neurobiological measures, as well as the value of incorporating longitudinal and developmental data into molecular designs

Abstract

People often describe things that are similar as close and things that are dissimilar as far apart. Does the way people talk about similarity reveal something fundamental about the way they conceptualize it? Three experiments tested the relationship between similarity and spatial proximity that is encoded in metaphors in language. Similarity ratings for pairs of words or pictures varied as a function of how far apart the stimuli appeared on the computer screen, but the influence of distance on similarity differed depending on the type of judgments the participants made. Stimuli presented closer together were rated more similar during conceptual judgments of abstract entities or unseen object properties but were rated less similar during perceptual judgments of visual appearance. These contrasting results underscore the importance of testing predictions based on linguistic metaphors experimentally and suggest that our sense of similarity arises from our ability to combine available perceptual information with stored knowledge of experiential regularities.

Abstract

The idea that language shapes the way we think, often associated with Benjamin Whorf, has long been decried as not only wrong but also fundamentally wrong-headed. Yet, experimental evidence has reopened debate about the extent to which language influences nonlinguistic cognition, particularly in the domain of time. In this article, I will first analyze an influential argument against the Whorfian hypothesis and show that its anti-Whorfian conclusion is in part an artifact of conflating two distinct questions: Do we think in language? and Does language shape thought? Next, I will discuss crosslinguistic differences in spatial metaphors for time and describe experiments that demonstrate corresponding differences in nonlinguistic mental representations. Finally, I will sketch a simple learning mechanism by which some linguistic relativity effects appear to arise. Although people may not think in language, speakers of different languages develop distinctive conceptual repertoires as a consequence of ordinary and presumably universal neural and cognitive processes.

Abstract

How do we construct abstract ideas like justice, mathematics, or time-travel? In this paper we investigate whether mental representations that result from physical experience underlie people’s more abstract mental representations, using the domains of space and time as a testbed. People often talk about time using spatial language (e.g., a long vacation, a short concert). Do people also think about time using spatial representations, even when they are not using language? Results of six psychophysical experiments revealed that people are unable to ignore irrelevant spatial information when making judgments about duration, but not the converse. This pattern, which is predicted by the asymmetry between space and time in linguistic metaphors, was demonstrated here in tasks that do not involve any linguistic stimuli or responses. These findings provide evidence that the metaphorical relationship between space and time observed in language also exists in our more basic representations of distance and duration. Results suggest that our mental representations of things we can never see or touch may be built, in part, out of representations of physical experiences in perception and motor action.

Abstract

Children begin developing turn-taking skills in infancy but take several years to fluidly integrate their growing knowledge of language into their turn-taking behavior. In two eye-tracking experiments, we measured children’s anticipatory gaze to upcoming responders while controlling linguistic cues to turn structure. In Experiment 1, we showed English and non-English conversations to English-speaking adults and children. In Experiment 2, we phonetically controlled lexicosyntactic and prosodic cues in English-only speech. Children spontaneously made anticipatory gaze switches by age two and continued improving through age six. In both experiments, children and adults made more anticipatory switches after hearing questions. Consistent with prior findings on adult turn prediction, prosodic information alone did not increase children’s anticipatory gaze shifts. But, unlike prior work with adults, lexical information alone was not sucient either—children’s performance was best overall with lexicosyntax and prosody together. Our findings support an account in which turn tracking and turn prediction emerge in infancy and then gradually become integrated with children’s online linguistic processing.

Abstract

The parietal lobe has a unique place in the human brain. Anatomically, it is at the crossroad between the frontal, occipital, and temporal lobes, thus providing a middle ground for multimodal sensory integration. Functionally, it supports higher cognitive functions that are characteristic of the human species, such as mathematical cognition, semantic and pragmatic aspects of language, and abstract thinking. Despite its importance, a comprehensive comparison of human and simian intraparietal networks is missing.

In this study, we used diffusion imaging tractography to reconstruct the major intralobar parietal tracts in twenty-one datasets acquired in vivo from healthy human subjects and eleven ex vivo datasets from five vervet and six macaque monkeys. Three regions of interest (postcentral gyrus, superior parietal lobule and inferior parietal lobule) were used to identify the tracts. Surface projections were reconstructed for both species and results compared to identify similarities or differences in tract anatomy (i.e., trajectories and cortical projections). In addition, post-mortem dissections were performed in a human brain.

The largest tract identified in both human and monkey brains is a vertical pathway between the superior and inferior parietal lobules. This tract can be divided into an anterior (supramarginal gyrus) and a posterior (angular gyrus) component in both humans and monkey brains. The second prominent intraparietal tract connects the postcentral gyrus to both supramarginal and angular gyri of the inferior parietal lobule in humans but only to the supramarginal gyrus in the monkey brain. The third tract connects the postcentral gyrus to the anterior region of the superior parietal lobule and is more prominent in monkeys compared to humans. Finally, short U-shaped fibres in the medial and lateral aspects of the parietal lobe were identified in both species. A tract connecting the medial parietal cortex to the lateral inferior parietal cortex was observed in the monkey brain only.

Our findings suggest a consistent pattern of intralobar parietal connections between humans and monkeys with some differences for those areas that have cytoarchitectonically distinct features in humans. The overall pattern of intraparietal connectivity supports the special role of the inferior parietal lobule in cognitive functions characteristic of humans.

Abstract

Both children and adults predict the content of upcoming language, suggesting that prediction is useful for learning as well as processing. We present an alternative model which can explain prediction behaviour as a by-product of language learning. We suggest that a consideration of language acquisition places important constraints on Pickering & Garrod's (P&G's) theory.

Abstract

RNAs processing other RNAs is very general in eukaryotes, but is not clear to what extent it is ancestral to eukaryotes. Here we focus on pre-mRNA splicing, one of the most important RNA-processing mechanisms in eukaryotes. In most eukaryotes splicing is predominantly catalysed by the major spliceosome complex, which consists of five uridine-rich small nuclear RNAs (U-snRNAs) and over 200 proteins in humans. Three major spliceosomal introns have been found experimentally in Giardia; one Giardia U-snRNA (U5) and a number of spliceosomal proteins have also been identified. However, because of the low sequence similarity between the Giardia ncRNAs and those of other eukaryotes, the other U-snRNAs of Giardia had not been found. Using two computational methods, candidates for Giardia U1, U2, U4 and U6 snRNAs were identified in this study and shown by RT-PCR to be expressed. We found that identifying a U2 candidate helped identify U6 and U4 based on interactions between them. Secondary structural modelling of the Giardia U-snRNA candidates revealed typical features of eukaryotic U-snRNAs. We demonstrate a successful approach to combine computational and experimental methods to identify expected ncRNAs in a highly divergent protist genome. Our findings reinforce the conclusion that spliceosomal small-nuclear RNAs existed in the last common ancestor of eukaryotes.

Abstract

A significant proportion of children have unexplained problems acquiring proficient linguistic skills despite adequate intelligence and opportunity. Developmental language disorders are highly heritable with substantial societal impact. Molecular studies have begun to identify candidate loci, but much of the underlying genetic architecture remains undetermined. We performed whole-exome sequencing of 43 unrelated probands affected by severe specific language impairment, followed by independent validations with Sanger sequencing, and analyses of segregation patterns in parents and siblings, to shed new light on aetiology. By first focusing on a pre-defined set of known candidates from the literature, we identified potentially pathogenic variants in genes already implicated in diverse language-related syndromes, including ERC1, GRIN2A, and SRPX2. Complementary analyses suggested novel putative candidates carrying validated variants which were predicted to have functional effects, such as OXR1, SCN9A and KMT2D. We also searched for potential “multiple-hit” cases; one proband carried a rare AUTS2 variant in combination with a rare inherited haplotype affecting STARD9, while another carried a novel nonsynonymous variant in SEMA6D together with a rare stop-gain in SYNPR. On broadening scope to all rare and novel variants throughout the exomes, we identified biological themes that were enriched for such variants, including microtubule transport and cytoskeletal regulation.

Abstract

We investigated how listeners of two unrelated languages, Korean and Dutch, process phonologically viable and nonviable consonants spoken in Dutch and American English. To Korean listeners, released final stops are nonviable because word-final stops in Korean are never released in words spoken in isolation, but to Dutch listeners, unreleased word-final stops are nonviable because word-final stops in Dutch are generally released in words spoken in isolation. Two phoneme monitoring experiments showed a phonological effect on both Dutch and English stimuli: Korean listeners detected the unreleased stops more rapidly whereas Dutch listeners detected the released stops more rapidly and/or more accurately. The Koreans, however, detected released stops more accurately than unreleased stops, but only in the non-native language they were familiar with (English). The results suggest that, in non-native speech perception, phonological legitimacy in the native language can be more important than the richness of phonetic information, though familiarity with phonetic detail in the non-native language can also improve listening performance.

Abstract

This study tests whether potential differences in the perceptual robustness of speech sounds influence continuous-speech processes. Two phoneme-monitoring experiments examined place assimilation in Korean. In Experiment 1, Koreans monitored for targets which were either labials (/p,m/) or alveolars (/t,n/), and which were either unassimilated or assimilated to a following /k/ in two-word utterances. Listeners detected unaltered (unassimilated) labials faster and more accurately than assimilated labials; there was no such advantage for unaltered alveolars. In Experiment 2, labial–velar differences were tested using conditions in which /k/ and /p/ were illegally assimilated to a following /t/. Unassimilated sounds were detected faster than illegally assimilated sounds, but this difference tended to be larger for /k/ than for /p/. These place-dependent asymmetries suggest that differences in the perceptual robustness of segments play a role in shaping phonological patterns.

Abstract

Children adopted early in life into another linguistic community typically forget their birth language but retain, unaware, relevant linguistic knowledge that may facilitate (re)learning of birth-language patterns. Understanding the nature of this knowledge can shed light on how language is acquired. Here, international adoptees from Korea with Dutch as their current language, and matched Dutch-native controls, provided speech production data on a Korean consonantal distinction unlike any Dutch distinctions, at the outset and end of an intensive perceptual training. The productions, elicited in a repetition task, were identified and rated by Korean listeners. Adoptees' production scores improved significantly more across the training period than control participants' scores, and, for adoptees only, relative production success correlated significantly with the rate of learning in perception (which had, as predicted, also surpassed that of the controls). Of the adoptee group, half had been adopted at 17 months or older (when talking would have begun), while half had been prelinguistic (under six months). The former group, with production experience, showed no advantage over the group without. Thus the adoptees' retained knowledge of Korean transferred from perception to production and appears to be abstract in nature rather than dependent on the amount of experience.

Abstract

Until at least 6 mo of age, infants show good discrimination for familiar phonetic contrasts (i.e., those heard in the environmental language) and contrasts that are unfamiliar. Adult-like discrimination (significantly worse for nonnative than for native contrasts) appears only later, by 9–10 mo. This has been interpreted as indicating that infants have no knowledge of phonology until vocabulary development begins, after 6 mo of age. Recently, however, word recognition has been observed before age 6 mo, apparently decoupling the vocabulary and phonology acquisition processes. Here we show that phonological acquisition is also in progress before 6 mo of age. The evidence comes from retention of birth-language knowledge in international adoptees. In the largest ever such study, we recruited 29 adult Dutch speakers who had been adopted from Korea when young and had no conscious knowledge of Korean language at all. Half were adopted at age 3–5 mo (before native-specific discrimination develops) and half at 17 mo or older (after word learning has begun). In a short intensive training program, we observe that adoptees (compared with 29 matched controls) more rapidly learn tripartite Korean consonant distinctions without counterparts in their later-acquired Dutch, suggesting that the adoptees retained phonological knowledge about the Korean distinction. The advantage is equivalent for the younger-adopted and the older-adopted groups, and both groups not only acquire the tripartite distinction for the trained consonants but also generalize it to untrained consonants. Although infants younger than 6 mo can still discriminate unfamiliar phonetic distinctions, this finding indicates that native-language phonological knowledge is nonetheless being acquired at that age.

Abstract

In the speech production model proposed by [Levelt, W. J. M., Roelofs, A., Meyer, A. S. (1999). A theory of lexical access in speech production. Behavioral and Brain Sciences, 22, pp. 1-75.], syllables play a crucial role at the interface of phonological and phonetic encoding. At this interface, abstract phonological syllables are translated into phonetic syllables. It is assumed that this translation process is mediated by a so-called Mental Syllabary. Rather than constructing the motor programs for each syllable on-line, the mental syllabary is hypothesized to provide pre-compiled gestural scores for the articulators. In order to find evidence for such a repository, we investigated syllable-frequency effects: If the mental syllabary consists of retrievable representations corresponding to syllables, then the retrieval process should be sensitive to frequency differences. In a series of experiments using a symbol-position association learning task, we tested whether highfrequency syllables are retrieved and produced faster compared to low-frequency syllables. We found significant syllable frequency effects with monosyllabic pseudo-words and disyllabic pseudo-words in which the first syllable bore the frequency manipulation; no effect was found when the frequency manipulation was on the second syllable. The implications of these results for the theory of word form encoding at the interface of phonological and phonetic encoding; especially with respect to the access mechanisms to the mental syllabary in the speech production model by (Levelt et al.) are discussed.

Abstract

Although most bilinguals can translate with relative ease, the underlying neuro-cognitive processes are poorly understood. Using event-related brain potentials (ERPs) we investigated the temporal course of word translation. Participants translated words from and to their first (L1, Dutch) and second (L2, English) language while ERPs were recorded. Interlingual homographs (IHs) were included to introduce language conflict. IHs share orthographic form but have different meanings in L1 and L2 (e.g., room in Dutch refers to cream). Results showed that the brain distinguished between translation directions as early as 200 ms after word presentation: the P2 amplitudes were more positive in the L1L2 translation direction. The N400 was also modulated by translation direction, with more negative amplitudes in the L2L1 translation direction. Furthermore, the IHs were translated more slowly, induced more errors, and elicited more negative N400 amplitudes than control words. In a naming experiment, participants read aloud the same words in L1 or L2 while ERPs were recorded. Results showed no effect of either IHs or language, suggesting that task schemas may be crucially related to language control in translation. Furthermore, translation appears to involve conceptual processing in both translation directions, and the task goal appears to influence how words are processed.

Abstract

This study investigated the motor strategy involved in mental rotation tasks by examining 2 types of spontaneous gestures (hand–object interaction gestures, representing the agentive hand action on an object, vs. object-movement gestures, representing the movement of an object by itself) and different types of verbal descriptions of rotation. Hand–object interaction gestures were produced earlier than object-movement gestures, the rate of both types of gestures decreased, and gestures became more distant from the stimulus object over trials (Experiments 1 and 3). Furthermore, in the first few trials, object-movement gestures increased, whereas hand–object interaction gestures decreased, and this change of motor strategies was also reflected in the type of verbal description of rotation in the concurrent speech (Experiment 2). This change of motor strategies was hampered when gestures were prohibited (Experiment 4). The authors concluded that the motor strategy becomes less dependent on agentive action on the object, and also becomes internalized over the course of the experiment, and that gesture facilitates the former process. When solving a problem regarding the physical world, adults go through developmental processes similar to internalization and symbolic distancing in young children, albeit within a much shorter time span.

Abstract

We present results from two cross‐modal morphological priming experiments investigating regular person and number inflection on finite verbs in German. We found asymmetries in the priming patterns between different affixes that can be predicted from the structure of the paradigm. We also report data from language disorders which indicate that inflectional errors produced by language‐impaired adults and children tend to occur within a given paradigm dimension, rather than randomly across the paradigm. We conclude that morphological paradigms are used by the human language processor and can be systematically affected in language disorders.

Abstract

Expectancy mechanisms are routinely used by the cognitive system in stimulus processing and in anticipation of appropriate responses. Electrophysiology research has documented negative shifts of brain activity when expectancies are violated within a local stimulus context (e.g., reading an implausible word in a sentence) or more globally between consecutive stimuli (e.g., a narrative of images with an incongruent end). In this EEG study, we examine the interaction between expectancies operating at the level of stimulus plausibility and at more global level of contextual congruency to provide evidence for, or against, a disassociation of the underlying processing mechanisms. We asked participants to verify the congruency of pairs of cross-modal stimuli (a sentence and a scene), which varied in plausibility. ANOVAs on ERP amplitudes in selected windows of interest show that congruency violation has longer-lasting (from 100 to 500 ms) and more widespread effects than plausibility violation (from 200 to 400 ms). We also observed critical interactions between these factors, whereby incongruent and implausible pairs elicited stronger negative shifts than their congruent counterpart, both early on (100–200 ms) and between 400–500 ms. Our results suggest that the integration mechanisms are sensitive to both global and local effects of expectancy in a modality independent manner. Overall, we provide novel insights into the interdependence of expectancy during meaning integration of cross-modal stimuli in a verification task

Abstract

Recent theoretical models have demonstrated that phenotypic traits can support the non-random assortment of cooperators in a population, thereby permitting the evolution of cooperation. In these “tag-based models”, cooperators modulate cooperation according to an observable and hard-to-fake trait displayed by potential interaction partners. Socially acquired vocalizations in general, and speech accent among humans in particular, are frequently proposed as hard to fake and hard to hide traits that display sufficient cross-populational variability to reliably guide such social assortment in fission–fusion societies. Adults’ sensitivity to accent variation in social evaluation and decisions about cooperation is well-established in sociolinguistic research. The evolutionary and developmental origins of these biases are largely unknown, however. Here, we investigate the influence of speech accent on 5–10-year-old children's developing social and cooperative preferences across four Brazilian Amazonian towns. Two sites have a single dominant accent, and two sites have multiple co-existing accent varieties. We found that children's friendship and resource allocation preferences were guided by accent only in sites characterized by accent heterogeneity. Results further suggest that this may be due to a more sensitively tuned ear for accent variation. The demonstrated local-accent preference did not hold in the face of personal cost. Results suggest that mechanisms guiding tag-based assortment are likely tuned according to locally relevant tag-variation.

Abstract

The nature of the connection between musical and spatial processing is controversial. While pitch may be described in spatial terms such as “high” or “low”, it is unclear whether pitch and space are associated but separate dimensions or whether they share representational and processing resources. In the present study, we asked participants to judge whether a target vocal note was the same as (or different from) a preceding cue note. Importantly, target trials were presented as video clips where a singer sometimes gestured upward or downward while singing that target note, thus providing an alternative, concurrent source of spatial information. Our results show that pitch discrimination was significantly biased by the spatial movement in gesture, such that downward gestures made notes seem lower in pitch than they really were, and upward gestures made notes seem higher in pitch. These effects were eliminated by spatial memory load but preserved under verbal memory load conditions. Together, our findings suggest that pitch and space have a shared representation such that the mental representation of pitch is audiospatial in nature.

Abstract

Three dual-task experiments investigated the capacity demands of phoneme selection in picture naming. On each trial, participants named a target picture (Task 1) and carried out a tone discrimination task (Task 2). To vary the time required for phoneme selection, the authors combined the targets with phonologically related or unrelated distractor pictures (Experiment 1) or words, which were clearly visible (Experiment 2) or masked (Experiment 3). When pictures or masked words were presented, the tone discrimination and picture naming latencies were shorter in the related condition than in the unrelated condition, which indicates that phoneme selection requires central processing capacity. However, when the distractor words were clearly visible, the facilitatory effect was confined to the picture naming latencies. This pattern arose because the visible related distractor words facilitated phoneme selection but slowed down speech monitoring processes that had to be completed before the response to the tone could be selected.

Abstract

Past events like fluctuations in population size and post-glacial colonization processes may influence the relative importance of genetic drift, migration and selection when determining the present day patterns of genetic variation. We disentangle how drift, selection and migration shape neutral and adaptive genetic variation in 12 moor frog populations along a 1700 km latitudinal gradient. We studied genetic differentiation and variation at a MHC exon II locus and a set of 18 microsatellites.
Results

Using outlier analyses, we identified the MHC II exon 2 (corresponding to the β-2 domain) locus and one microsatellite locus (RCO8640) to be subject to diversifying selection, while five microsatellite loci showed signals of stabilizing selection among populations. STRUCTURE and DAPC analyses on the neutral microsatellites assigned populations to a northern and a southern cluster, reflecting two different post-glacial colonization routes found in previous studies. Genetic variation overall was lower in the northern cluster. The signature of selection on MHC exon II was weaker in the northern cluster, possibly as a consequence of smaller and more fragmented populations.
Conclusion

Our results show that historical demographic processes combined with selection and drift have led to a complex pattern of differentiation along the gradient where some loci are more divergent among populations than predicted from drift expectations due to diversifying selection, while other loci are more uniform among populations due to stabilizing selection. Importantly, both overall and MHC genetic variation are lower at northern latitudes. Due to lower evolutionary potential, the low genetic variation in northern populations may increase the risk of extinction when confronted with emerging pathogens and climate change.

Abstract

The pubertal height growth spurt is a distinctive feature of childhood growth reflecting both the central onset of puberty and local growth factors. Although little is known about the underlying genetics, growth variability during puberty correlates with adult risks for hormone-dependent cancer and adverse cardiometabolic health. The only gene so far associated with pubertal height growth, LIN28B, pleiotropically influences childhood growth, puberty and cancer progression, pointing to shared underlying mechanisms. To discover genetic loci influencing pubertal height and growth and to place them in context of overall growth and maturation, we performed genome-wide association meta-analyses in 18 737 European samples utilizing longitudinally collected height measurements. We found significant associations (P < 1.67 × 10(-8)) at 10 loci, including LIN28B. Five loci associated with pubertal timing, all impacting multiple aspects of growth. In particular, a novel variant correlated with expression of MAPK3, and associated both with increased prepubertal growth and earlier menarche. Another variant near ADCY3-POMC associated with increased body mass index, reduced pubertal growth and earlier puberty. Whereas epidemiological correlations suggest that early puberty marks a pathway from rapid prepubertal growth to reduced final height and adult obesity, our study shows that individual loci associating with pubertal growth have variable longitudinal growth patterns that may differ from epidemiological observations. Overall, this study uncovers part of the complex genetic architecture linking pubertal height growth, the timing of puberty and childhood obesity and provides new information to pinpoint processes linking these traits.

Abstract

Until recently, imaging the infant brain was very challenging. Functional Near InfraRed Spectroscopy (fNIRS) is a promising, relatively novel technique, whose use is rapidly expanding. As an emergent field, it is particularly important to share methodological knowledge to ensure replicable and robust results. In this paper, we present a community-augmented database which will facilitate precisely this exchange. We tabulated articles and theses reporting empirical fNIRS research carried out on infants below three years of age along several methodological variables. The resulting spreadsheet has been uploaded in a format allowing individuals to continue adding new results, and download the most recent version of the table. Thus, this database is ideal to carry out systematic reviews. We illustrate its academic utility by focusing on the factors affecting three key variables: infant attrition, the reliability of oxygenated and deoxygenated responses, and signal-to-noise ratios. We then discuss strengths and weaknesses of the DBIfNIRS, and conclude by suggesting a set of simple guidelines aimed to facilitate methodological convergence through the standardization of reports.

Abstract

Over the first year of life, infant perception changes radically as the child learns the phonology of the ambient language from the speech she is exposed to. Since infant-directed speech attracts the child's attention more than other registers, it is necessary to describe that input in order to understand language development, and to address questions of learnability. In this review, evidence from corpora analyses, experimental studies, and observational paradigms is brought together to outline the first comprehensive empirical picture of infant-directed speech and its effects on language acquisition. The ensuing landscape suggests that infant-directed speech provides an emotionally and linguistically rich input to language acquisition

Abstract

Phonological patterns in languages often involve groups of sounds rather than individual sounds, which may be explained if phonology operates on the abstract features shared by those groups (Troubetzkoy, 193957. Troubetzkoy , N. 1939/1969 . Principles of phonology , Berkeley : University of California Press . View all references/1969; Chomsky & Halle, 19688. Chomsky , N. and Halle , M. 1968 . The sound pattern of English , New York : Harper and Row . View all references). Such abstract features may be present in the developing grammar either because they are part of a Universal Grammar included in the genetic endowment of humans (e.g., Hale, Kissock and Reiss, 200618. Hale , M. , Kissock , M. and Reiss , C. 2006 . Microvariation, variation, and the features of universal grammar . Lingua , 32 : 402 – 420 . View all references), or plausibly because infants induce features from their linguistic experience (e.g., Mielke, 200438. Mielke , J. 2004 . The emergence of distinctive features , Ohio State University : Unpublished doctoral dissertation . View all references). A first experiment tested 7-month-old infants' learning of an artificial grammar pattern involving either a set of sounds defined by a phonological feature, or a set of sounds that cannot be described with a single feature—an “arbitrary” set. Infants were able to induce the constraint and generalize it to a novel sound only for the set that shared the phonological feature. A second study showed that infants' inability to learn the arbitrary grouping was not due to their inability to encode a constraint on some of the sounds involved.

Abstract

A core property of language is the ability to generalize beyond observed examples. In two experiments, we explore how listeners generalize implicitly learned sound patterns to new nonwords and to new sounds, with the goal of shedding light on how similarity affects treatment of potential generalization targets. During the exposure phase, listeners heard nonwords whose onset consonant was restricted to a subset of a natural class (e.g., /d g v z Z/). During the test phase, listeners were presented with new nonwords and asked to judge how frequently they had been presented before; some of the test items began with a consonant from the exposure set (e.g., /d/), and some began with novel consonants with varying relations to the exposure set (e.g., /b/, which is highly similar to all onsets in the training set; /t/, which is highly similar to one of the training onsets; and /p/, which is less similar than the other two). The exposure onset was rated most frequent, indicating that participants encoded onset attestation in the exposure set, and generalized it to new nonwords. Participants also rated novel consonants as somewhat frequent, indicating generalization to onsets that did not occur in the exposure phase. While generalization could be accounted for in terms of featural distance, it was insensitive to natural class structure. Generalization to new sounds was predicted better by models requiring prior linguistic knowledge (either traditional distinctive features or articulatory phonetic information) than by a model based on a linguistically naïve measure of acoustic similarity.

Abstract

First paragraph: Motivated by his quest to characterize the society of the last common ancestor of humans and other great apes, Toshisada Nishida set out as a graduate student to the Mahale Mountains on the eastern shore of Lake Tanganyika, Tanzania. This book is a story of his 45 years with the Mahale chimpanzees, or as he calls it, their ethnography. Beginning with his accounts of meeting the Tongwe people and the challenges of provisioning the chimpanzees for habituation, Nishida reveals how he slowly unravelled the unit group and community basis of chimpanzee social organization. The book begins and ends with a feeling of chronological order, starting with his arrival at Mahale and ending with an eye towards the future, with concrete recommendations for protecting wild chimpanzees. However, the bulk of the book is topically organized with chapters on feeding behaviour, growth and development, play and exploration, communication, life histories, sexual strategies, politics and culture.

Abstract

To meet their exhibition, conservation, education, and scientific goals, members of the American Zoo and Aquarium Association (AZA) collaborate to manage their living collections as single species populations. These cooperative population management programs, Species Survival Planss (SSP) and Population Management Plans (PMP), issue specimen-by-specimen recommendations aimed at perpetuating captive populations by maintaining genetic diversity and demographic stability. Species Survival Plans and PMPs differ in that SSP participants agree to complete recommendations, whereas PMP participants need only take recommendations under advisement. We evaluated the effect of program type and the number of participating institutions on the success of actions recommended by the Population Management Center (PMC): transfers of specimens between institutions, breeding, and target number of offspring. We analyzed AZA studbook databases for the occurrence of recommended or unrecommended transfers and births during the 1-year period after the distribution of standard AZA Breeding-and-Transfer Plans. We had three major findings: 1) on average, both SSPs and PMPs fell about 25% short of their target; however, as the number of participating institutions increased so too did the likelihood that programs met or exceeded their target; 2) SSPs exhibited significantly greater transfer success than PMPs, although transfer success for both program types was below 50%; and 3) SSPs exhibited significantly greater breeding success than PMPs, although breeding success for both program types was below 20%. Together, these results indicate that the science and sophistication behind genetic and demographic management of captive populations may be compromised by the challenges of implementation.

Abstract

Cooperation among nonhuman animals has been the topic of much theoretical and empirical research, but few studies have examined systematically the effects of various reward payoffs on cooperative behaviour. Here, we presented heterosexual pairs of cooperatively breeding cottontop tamarins with a cooperative problem-solving task. In a series of four experiments, we examined how the tamarins’ cooperative performance changed under conditions in which (1) both actors were mutually rewarded, (2) both actors were rewarded reciprocally across days, (3) both actors competed for a monopolizable reward and (4) one actor repeatedly delivered a single reward to the other actor. The tamarins showed sensitivity to the reward structure, showing the greatest percentage of trials solved and shortest latency to solve the task in the mutual reward experiment and the lowest percentage of trials solved and longest latency to solve the task in the experiment in which one actor was repeatedly rewarded. However, even in the experiment in which the fewest trials were solved, the tamarins still solved 46 _ 12% of trials and little to no aggression was observed among partners following inequitable reward distributions. The tamarins did, however, show selfish motivation in each of the experiments. Nevertheless, in all experiments, unrewarded individuals continued to cooperate and procure rewards for their social partners.

Abstract

Speech processing by human listeners derives meaning from acoustic input via intermediate steps involving abstract representations of what has been heard. Recent results from several lines of research are here brought together to shed light on the nature and role of these representations. In spoken-word recognition, representations of phonological form and of conceptual content are dissociable. This follows from the independence of patterns of priming for a word's form and its meaning. The nature of the phonological-form representations is determined not only by acoustic-phonetic input but also by other sources of information, including metalinguistic knowledge. This follows from evidence that listeners can store two forms as different without showing any evidence of being able to detect the difference in question when they listen to speech. The lexical representations are in turn separate from prelexical representations, which are also abstract in nature. This follows from evidence that perceptual learning about speaker-specific phoneme realization, induced on the basis of a few words, generalizes across the whole lexicon to inform the recognition of all words containing the same phoneme. The efficiency of human speech processing has its basis in the rapid execution of operations over abstract representations.

Abstract

Previous research has shown that, in a phoneme detection task, vowels produce longer reaction times than consonants, suggesting that they are harder to perceive. One possible explanation for this difference is based upon their respective acoustic/articulatory characteristics. Another way of accounting for the findings would be to relate them to the differential functioning of vowels and consonants in the syllabic structure of words. In this experiment, we examined the second possibility. Targets were two pairs of phonemes, each containing a vowel and a consonant with similar phonetic characteristics. Subjects heard lists of English words had to press a response key upon detecting the occurrence of a pre-specified target. This time, the phonemes which functioned as vowels in syllabic structure yielded shorter reaction times than those which functioned as consonants. This rules out an explanation for response time difference between vowels and consonants in terms of function in syllable structure. Instead, we propose that consonantal and vocalic segments differ with respect to variability of tokens, both in the acoustic realisation of targets and in the representation of targets by listeners.

Abstract

Speech recognition in noise is harder in second (L2) than first languages (L1). This could be because noise disrupts speech processing more in L2 than L1, or because L1 listeners recover better though disruption is equivalent. Two similar prior studies produced discrepant results: Equivalent noise effects for L1 and L2 (Dutch) listeners, versus larger effects for L2 (Spanish) than L1. To explain this, the latter experiment was presented to listeners from the former population. Larger noise effects on consonant identification emerged for L2 (Dutch) than L1 listeners, suggesting that task factors rather than L2 population differences underlie the results discrepancy.

Abstract

The mapping of phonetic information to lexical representations in second-language (L2) listening was examined using an eyetracking paradigm. Japanese listeners followed instructions in English to click on pictures in a display. When instructed to click on a picture of a rocket, they experienced interference when a picture of a locker was present, that is, they tended to look at the locker instead. However, when instructed to click on the locker, they were unlikely to look at the rocket. This asymmetry is consistent with a similar asymmetry previously observed in Dutch listeners’ mapping of English vowel contrasts to lexical representations. The results suggest that L2 listeners may maintain a distinction between two phonetic categories of the L2 in their lexical representations, even though their phonetic processing is incapable of delivering the perceptual discrimination required for correct mapping to the lexical distinction. At the phonetic processing level, one of the L2 categories is dominant; the present results suggest that dominance is determined by acoustic–phonetic proximity to the nearest L1 category. At the lexical processing level, representations containing this dominant category are more likely than representations containing the non-dominant category to be correctly contacted by the phonetic input.

Abstract

The recent claim by Black and Byng (1986) that lexical access in reading is subject to prosodic constraints is examined and found to be unsupported. The evidence from impaired reading which Black and Byng report is based on poorly controlled stimulus materials and is inadequately analysed and reported. An alternative explanation of their findings is proposed, and new data are reported for which this alternative explanation can account but their model cannot. Finally, their proposal is shown to be theoretically unmotivated and in conflict with evidence from normal reading.

Abstract

Segmentation of continuous speech into its component words is a nontrivial task for listeners. Previous work has suggested that listeners develop heuristic segmentation procedures based on experience with the structure of their language; for English, the heuristic is that strong syllables (containing full vowels) are most likely to be the initial syllables of lexical words, whereas weak syllables (containing central, or reduced, vowels) are nonword-initial, or, if word-initial, are grammatical words. This hypothesis is here tested against natural and laboratory-induced missegmentations of continuous speech. Precisely the expected pattern is found: listeners erroneously insert boundaries before strong syllables but delete them before weak syllables; boundaries inserted before strong syllables produce lexical words, while boundaries inserted before weak syllables produce grammatical words.

Abstract

Monolingual French speakers employ a syllable-based procedure in speech segmentation; monolingual English speakers use a stress-based segmentation procedure and do not use the syllable-based procedure. In the present study French-English bilinguals participated in segmentation experiments with English and French materials. Their results as a group did not simply mimic the performance of English monolinguals with English language materials and of French monolinguals with French language materials. Instead, the bilinguals formed two groups, defined by forced choice of a dominant language. Only the French-dominant group showed syllabic segmentation and only with French language materials. The English-dominant group showed no syllabic segmentation in either language. However, the English-dominant group showed stress-based segmentation with English language materials; the French-dominant group did not. We argue that rhythmically based segmentation procedures are mutually exclusive, as a consequence of which speech segmentation by bilinguals is, in one respect at least, functionally monolingual.

Abstract

Speech-in-speech perception can be challenging because the processing of competing acoustic and linguistic information leads to informational masking. Here, a method is proposed to isolate the linguistic component of informational masking while keeping the distractor's acoustic information unchanged. Participants performed a dichotic listening cocktail-party task before and after training on 4-band noise-vocoded sentences that became intelligible through the training. Distracting noise-vocoded speech interfered more with target speech comprehension after training (i.e., when intelligible) than before training (i.e., when unintelligible) at −3 dB SNR. These findings confirm that linguistic and acoustic information have distinct masking effects during speech-in‐speech comprehension

Abstract

PURPOSE: We examined circulating miRNA expression profiles in plasma of patients with coronary artery disease (CAD) vs. matched controls, with the aim of identifying novel discriminating biomarkers of Stable (SA) and Unstable (UA) angina. METHODS: An exploratory analysis of plasmatic expression profile of 367 miRNAs was conducted in a group of SA and UA patients and control donors, using TaqMan microRNA Arrays. Screening confirmation and expression analysis were performed by qRT-PCR: all miRNAs found dysregulated were examined in the plasma of troponin-negative UA (n=19) and SA (n=34) patients and control subjects (n=20), matched for sex, age, and cardiovascular risk factors. In addition, the expression of 14 known CAD-associated miRNAs was also investigated. RESULTS: Out of 178 miRNAs consistently detected in plasma samples, 3 showed positive modulation by CAD when compared to controls: miR-337-5p, miR-433, and miR-485-3p. Further, miR-1, -122, -126, -133a, -133b, and miR-199a were positively modulated in both UA and SA patients, while miR-337-5p and miR-145 showed a positive modulation only in SA or UA patients, respectively. ROC curve analyses showed a good diagnostic potential (AUC ≥ 0.85) for miR-1, -126, and -483-5p in SA and for miR-1, -126, and -133a in UA patients vs. controls, respectively. No discriminating AUC values were observed comparing SA vs. UA patients. Hierarchical cluster analysis showed that the combination of miR-1, -133a, and -126 in UA and of miR-1, -126, and -485-3p in SA correctly classified patients vs. controls with an efficiency ≥ 87%. No combination of miRNAs was able to reliably discriminate patients with UA from patients with SA. CONCLUSIONS: This work showed that specific plasmatic miRNA signatures have the potential to accurately discriminate patients with angiographically documented CAD from matched controls. We failed to identify a plasmatic miRNA expression pattern capable to differentiate SA from UA patients.

Abstract

The Battery for the Assessment of Auditory Sensorimotor and Timing Abilities (BAASTA) is a new tool for the systematic assessment of perceptual and sensorimotor timing skills. It spans a broad range of timing skills aimed at differentiating individual timing profiles. BAASTA consists of sensitive time perception and production tasks. Perceptual tasks include duration discrimination, anisochrony detection (with tones and music), and a version of the Beat Alignment Task. Perceptual thresholds for duration discrimination and anisochrony detection are estimated with a maximum likelihood procedure (MLP) algorithm. Production tasks use finger tapping and include unpaced and paced tapping (with tones and music), synchronization-continuation, and adaptive tapping to a sequence with a tempo change. BAASTA was tested in a proof-of-concept study with 20 non-musicians (Experiment 1). To validate the results of the MLP procedure, less widespread than standard staircase methods, three perceptual tasks of the battery (duration discrimination, anisochrony detection with tones, and with music) were further tested in a second group of non-musicians using 2 down / 1 up and 3 down / 1 up staircase paradigms (n = 24) (Experiment 2). The results show that the timing profiles provided by BAASTA allow to detect cases of timing/rhythm disorders. In addition, perceptual thresholds yielded by the MLP algorithm, although generally comparable to the results provided by standard staircase, tend to be slightly lower. In sum, BAASTA provides a comprehensive battery to test perceptual and sensorimotor timing skills, and to detect timing/rhythm deficits.

Abstract

Researchers interested in face processing have recently debated whether access to the name of a known person occurs in parallel with retrieval of semantic-biographical codes, rather than in a sequential fashion. Recently, Schweinberger, Burton, and Kelly (2001) took a failure to obtain a semantic context effect in a manual syllable judgment task on names of famous faces as support for this position. In two experiments, we compared the effects of visually presented categorically related prime words with either objects (e.g. prime: animal; target: dog) or faces of celebrities (e.g. prime: actor; target: Bruce Willis) as targets. Targets were either manually categorized with regard to the number of syllables (as in Schweinberger et al.), or they were overtly named. For neither objects nor faces was semantic priming obtained in syllable decisions; crucially, however, priming was obtained when objects and faces were overtly named. These results suggest that both face and object naming are susceptible to semantic context effects

Abstract

Human cognition is traditionally studied in experimental conditions wherein confounding complexities of the natural environment are intentionally eliminated. Thus, it remains unknown how a brain region involved in a particular experimental condition is engaged in natural conditions. Here we use electrocorticography to address this uncertainty in three participants implanted with intracranial electrodes and identify activations of neuronal populations within the intraparietal sulcus region during an experimental arithmetic condition. In a subsequent analysis, we report that the same intraparietal sulcus neural populations are activated when participants, engaged in social conversations, refer to objects with numerical content. Our prototype approach provides a means for both exploring human brain dynamics as they unfold in complex social settings and reconstructing natural experiences from recorded brain signals.

Abstract

In the present study, we explore whether multiple data sources may be more effective than single sources at predicting the words that language learners are likely to know. Second language researchers have hypothesized that there is a relationship between word frequency and the likelihood that words will be encountered or used by second language learners, but it is not yet clear how this relationship should be effectively measured. An analysis of word frequency measures showed that spoken language frequency alone may predict the occurrence of words in learner textbooks, but that multiple corpora as well as textbook status can improve predictions of learner usage.

Abstract

In psycholinguistic studies using error rates as a response measure, response times (RT) are most often analyzed independently of the error rate, although it is widely recognized that they are related. In this paper we present a mixed effects logistic regression model for the error rate that uses RT as a trial-level fixed- and random-effect regression input. Production data from a translation–recall experiment are analyzed as an example. Several model comparisons reveal that RT improves the fit of the regression model for the error rate. Two simulation studies then show how the mixed effects regression model can identify individual participants for whom (a) faster responses are more accurate, (b) faster responses are less accurate, or (c) there is no relation between speed and accuracy. These results show that this type of model can serve as a useful adjunct to traditional techniques, allowing psycholinguistic researchers to examine more closely the relationship between RT and accuracy in individual subjects and better account for the variability which may be present, as well as a preliminary step to more advanced RT–accuracy modeling.

Abstract

The tracking of entities in discourse is known to be a bimodal phenomenon. Speakers achieve cohesion in speech by alternating between full lexical forms, pronouns, and zero anaphora as they track referents. They also track referents in co-speech gestures. In this study, we explored how viewpoint is deployed in reference tracking, focusing on representations of animate entities in German narrative discourse. We found that gestural viewpoint systematically varies depending on discourse context. Speakers predominantly use character viewpoint in maintained contexts and observer viewpoint in reintroduced contexts. Thus, gestural viewpoint seems to function as a cohesive device in narrative discourse. The findings expand on and provide further evidence for the coordination between speech and gesture on the discourse level that is crucial to understanding the tight link between the two modalities.

Abstract

Language is not a purely cultural phenomenon somehow isolated from its wider environment, and we may only understand its origins and evolution by seriously considering its embedding in this environment as well as its multimodal nature. By environment here we understand other aspects of culture (such as communication technology, attitudes towards language contact, etc.), of the physical environment (ultraviolet light incidence, air humidity, etc.), and of the biological infrastructure for language and speech. We are specifically concerned in this paper with the latter, in the form of the biases, constraints and affordances that the anatomy and physiology of the vocal tract create on speech and language. In a nutshell, our argument is that (a) there is an under-appreciated amount of inter-individual variation in vocal tract (VT) anatomy and physiology, (b) variation that is non-randomly distributed across populations, and that (c) results in systematic differences in phonetics and phonology between languages. Relevant differences in VT anatomy include the overall shape of the hard palate, the shape of the alveolar ridge, the relationship between the lower and upper jaw, to mention just a few, and our data offer a new way to systematically explore such differences and their potential impact on speech. These differences generate very small biases that nevertheless can be amplified by the repeated use and transmission of language, affecting language diachrony and resulting in cross-linguistic synchronic differences. Moreover, the same type of biases and processes might have played an essential role in the emergence and evolution of language, and might allow us a glimpse into the speech and language of extinct humans by, for example, reconstructing the anatomy of parts of their vocal tract from the fossil record and extrapolating the biases we find in present-day humans.

Abstract

It is usually assumed that modern language is a recent phenomenon, coinciding with the emergence of modern humans themselves. Many assume as well that this is the result of a single, sudden mutation giving rise to the full “modern package”. However, we argue here that recognizably modern language is likely an ancient feature of our genus pre-dating at least the common ancestor of modern humans and Neandertals about half a million years ago. To this end, we adduce a broad range of evidence from linguistics, genetics, palaeontology and archaeology clearly suggesting that Neandertals shared with us something like modern speech and language. This reassessment of the antiquity of modern language, from the usually quoted 50,000-100,000 years to half a million years, has profound consequences for our understanding of our own evolution in general and especially for the sciences of speech and language. As such, it argues against a saltationist scenario for the evolution of language, and towards a gradual process of culture-gene co-evolution extending to the present day. Another consequence is that the present-day linguistic diversity might better reflect the properties of the design space for language and not just the vagaries of history, and could also contain traces of the languages spoken by other human forms such as the Neandertals.

Abstract

Understanding the patterns and causes of differential structural stability is an area of major interest for the study of language change and evolution. It is still debated whether structural features have intrinsic stabilities across language families and geographic areas, or if the processes governing their rate of change are completely dependent upon the specific context of a given language or language family. We conducted an extensive literature review and selected seven different approaches to conceptualising and estimating the stability of structural linguistic features, aiming at comparing them using the same dataset, the World Atlas of Language Structures. We found that, despite profound conceptual and empirical differences between these methods, they tend to agree in classifying some structural linguistic features as being more stable than others. This suggests that there are intrinsic properties of such structural features influencing their stability across methods, language families and geographic areas. This finding is a major step towards understanding the nature of structural linguistic features and their interaction with idiosyncratic, lineage- and area-specific factors during language change and evolution.

Abstract

It has recently been proposed (Dediu, D., Ladd, D.R., 2007. Linguistic tone is related to the population frequency of the adaptive haplogroups of two brain size genes, ASPM and Microcephalin. Proc Natl Acad Sci USA 104, 10944-10949) that genetically coded linguistic biases can influence the trajectory of language change. However, the nature of such biases and the conditions under which they can become manifest have remained vague. The present paper explores computationally two plausible types of linguistic acquisition biases in a population of agents implementing realistic genetic, linguistic and demographic processes. One type of bias represents an innate asymmetric initial state (Initial Expectation bias) while the other an innate asymmetric facility of acquisition (Rate of Learning bias). It was found that only the second type of bias produces detectable effects on language through cultural transmission across generations and that such effects are produced even by weak biases present at low frequencies in the population. This suggests that learning preference asymmetries, very small at the individual level and not very frequent at the population level, can bias the trajectory of language change through the process of cultural transmission.

Abstract

Elevated resting heart rate is associated with greater risk of cardiovascular disease and mortality. In a 2-stage meta-analysis of genome-wide association studies in up to 181,171 individuals, we identified 14 new loci associated with heart rate and confirmed associations with all 7 previously established loci. Experimental downregulation of gene expression in Drosophila melanogaster and Danio rerio identified 20 genes at 11 loci that are relevant for heart rate regulation and highlight a role for genes involved in signal transmission, embryonic cardiac development and the pathophysiology of dilated cardiomyopathy, congenital heart failure and/or sudden cardiac death. In addition, genetic susceptibility to increased heart rate is associated with altered cardiac conduction and reduced risk of sick sinus syndrome, and both heart rate-increasing and heart rate-decreasing variants associate with risk of atrial fibrillation. Our findings provide fresh insights into the mechanisms regulating heart rate and identify new therapeutic targets.

Abstract

Next-generation sequencing is set to transform the discovery of genes underlying neurodevelopmental disorders, and so off er important insights into the biological bases of spoken language. Success will depend on functional assessments in neuronal cell lines, animal models and humans themselves.

Abstract

Prion diseases are fatal neurodegenerative disorders that include Creutzfeldt-Jakob disease in humans and bovine spongiform encephalopathy in animals. They are unique in terms of their biology because they are caused by the conformational re-arrangement of a normal host-encoded prion protein, PrPC, to an abnormal infectious isoform, PrPSc. Currently the precise mechanism behind prion-mediated neurodegeneration remains unclear. It is hypothesised than an unknown toxic gain of function of PrPSc, or an intermediate oligomeric form, underlies neuronal death. Increasing evidence suggests a role for the ubiquitin proteasome system (UPS) in prion disease. Both wild-type PrPC and disease-associated PrP isoforms accumulate in cells after proteasome inhibition leading to increased cell death, and abnormal beta-sheet-rich PrP isoforms have been shown to inhibit the catalytic activity of the proteasome. Here we review potential interactions between prions and the proteasome outlining how the UPS may be implicated in prion-mediated neurodegeneration.

Abstract

Investigation of the biological basis of human speech and language is being transformed by developments in molecular technologies, including high-throughput genotyping and next-generation sequencing of whole genomes. These advances are shedding new light on the genetic architecture underlying language-related disorders (speech apraxia, specific language impairment, developmental dyslexia) as well as that contributing to variation in relevant skills in the general population. We discuss how state-of-the-art methods are uncovering a range of genetic mechanisms, from rare mutations of large effect to common polymorphisms that increase risk in a subtle way, while converging on neurogenetic pathways that are shared between distinct disorders. We consider the future of the field, highlighting the unusual challenges and opportunities associated with studying genomics of language-related traits.

Abstract

Desmet, Brysbaert, and De Baecke (2002a) showed that the production of relative clauses following two potential attachment hosts (e.g., ‘Someone shot the servant of the actress who was on the balcony’) was influenced by the animacy of the first host. These results were important because they refuted evidence from Dutch against experience-based accounts of syntactic ambiguity resolution, such as the tuning hypothesis. However, Desmet et al. did not provide direct evidence in favour of tuning, because their study focused on production and did not include reading experiments. In the present paper this line of research was extended. A corpus analysis and an eye-tracking experiment revealed that when taking into account lexical properties of the NP host sites (i.e., animacy and concreteness) the frequency pattern and the on-line comprehension of the relative clause attachment ambiguity do correspond. The implications for exposure-based accounts of sentence processing are discussed.

Abstract

Background: Human fibroblasts can be directly converted to several subtypes of neurons, but cortical projection neurons have not been generated. Methods: Here we screened for transcription factor combinations that could potentially convert human fibroblasts to functional excitatory cortical neurons. The induced cortical (iCtx) cells were analyzed for cortical neuronal identity using immunocytochemistry, single-cell quantitative polymerase chain reaction (qPCR), electrophysiology, and their ability to integrate into human neural networks in vitro and ex vivo using electrophysiology and rabies virus tracing. Results: We show that a combination of three ranscription fact ors, BRN2, MYT1L, and FEZF2, have the ability to directly convert human fibroblasts to functional excitatory cortical neurons. The conversion efficiency was increased to about 16% by treatment with small molecules and microRNAs. The iCtx cells exhibited electrophysiological properties of functional neurons, had pyramidal-like cell morphology, and expressed key cortical projection neuronal markers. Single-cell analysis of iCtx cells revealed a complex gene expression profile, a subpopulation of them displaying a molecular signature closely resembling that of human fetal primary cortical neurons. The iCtx cells received synaptic inputs from co-cultured human fetal primary cortical neurons, contained spines, and expressed the postsyna ptic excitatory scaffold protein PSD95. When transplanted ex vivo to organotypic cultures of adult human cerebral cortex, the iCtx cells exhibited morphological and electrophysiological properties of mature neurons, integrated structurally into the cortical tissue, and received synaptic inputs from adult human neurons. Conclusions: Our findings indicate that functional excitatory cortical neurons, generated here for the first time by direct conversion of human somatic cells, have the capacity for synaptic integration into adult human cortex.

Abstract

Ependymal cells in the lateral ventricular wall are considered to be post-mitotic but can give rise to neuroblasts and astrocytes after stroke in adult mice due to insult-induced suppression of Notch signaling. The transcription factor FoxJ1, which has been used to characterize mouse ependymal cells, is also expressed by a subset of astrocytes. Cells expressing FoxJ1, which drives the expression of motile cilia, contribute to early postnatal neurogenesis in mouse olfactory bulb. The distribution and progeny of FoxJ1-expressing cells in rat forebrain are unknown. Here we show using immunohistochemistry that the overall majority of FoxJ1-expressing cells in the lateral ventricular wall of adult rats are ependymal cells with a minor population being astrocytes. To allow for long-term fate mapping of FoxJ1-derived cells, we used the piggyBac system for in vivo gene transfer with electroporation. Using this method, we found that FoxJ1-expressing cells, presumably the astrocytes, give rise to neuroblasts and mature neurons in the olfactory bulb both in intact and stroke-damaged brain of adult rats. No significant contribution of FoxJ1-derived cells to stroke-induced striatal neurogenesis was detected. These data indicate that in the adult rat brain, FoxJ1-expressing cells contribute to the formation of new neurons in the olfactory bulb but are not involved in the cellular repair after stroke.

Abstract

It is widely assumed that ultimate attainment in adult second language (L2) learners often differs quite radically from ultimate attainment in child L2 learners. This article addresses the question of whether learners at different ages also show qualitative differences in the process of L2 acquisition. Longitudinal production data from two untutored Russian beginners (ages 8 and 14) acquiring German under roughly similar conditions are compared to published results on the acquisition of German by adult immigrants. The study focuses on the acquisition of negation and finiteness as core domains of German sentence grammar. Adult learners have been shown to produce an early nonfinite learner variety in which utterance organization relies on principles of information structure rather than on target language grammar. They then go through a couple of intermediate steps in which, first, semantically empty verbs (auxiliaries) serve as isolated carriers of finiteness before lexical verbs become finite. Whereas the 14-year-old learner of this case study basically shows a developmental pattern similar to that of adults, the 8-year-old child produces a different order of acquisition: Not only is the development of finite morphology faster, but finite lexical verbs are acquired before auxiliary constructions (Perfekt). Results suggest a stronger tendency for young learners to incrementally assimilate input patterns without relying on analytic steps guided by principles of information organization to the same extent as older learners.

Abstract

Words and phrases may differ in the extent to which they are susceptible to prosodic foregrounding and expressive morphology: their expressiveness. They may also differ in the degree to which they are integrated in the morphosyntactic structure of the utterance: their grammatical integration. We describe an inverse relation that holds across widely varied languages, such that more expressiveness goes together with less grammatical integration, and vice versa. We review typological evidence for this inverse relation in 10 languages, then quantify and explain it using Japanese corpus data. We do this by tracking ideophones —vivid sensory words also known as mimetics or expressives— across different morphosyntactic contexts and measuring their expressiveness in terms of intonation, phonation and expressive morphology. We find that as expressiveness increases, grammatical integration decreases. Using gesture as a measure independent of the speech signal, we find that the most expressive ideophones are most likely to come together with iconic gestures. We argue that the ultimate cause is the encounter of two distinct and partly incommensurable modes of representation: the gradient, iconic, depictive system represented by ideophones and iconic gestures and the discrete, arbitrary, descriptive system represented by ordinary words. The study shows how people combine modes of representation in speech and demonstrates the value of integrating description and depiction into the scientific vision of language.

Abstract

This article examines the relation between ideophones and gestures in a corpus of everyday discourse in Siwu, a richly ideophonic language spoken in Ghana. The overall frequency of ideophone-gesture couplings in everyday speech is lower than previously suggested, but two findings shed new light on the relation between ideophones and gesture. First, discourse type makes a difference: ideophone-gesture couplings are more frequent in narrative contexts, a finding that explains earlier claims, which were based not on everyday language use but on elicited narratives. Second, there is a particularly strong coupling between ideophones and one type of gesture: iconic gestures. This coupling allows us to better understand iconicity in relation to the affordances of meaning and modality. Ultimately, the connection between ideophones and iconic gestures is explained by reference to the depictive nature of both. Ideophone and iconic gesture are two aspects of the process of depiction

Abstract

A word like Huh?–used as a repair initiator when, for example, one has not clearly heard what someone just said– is found in roughly the same form and function in spoken languages across the globe. We investigate it in naturally occurring conversations in ten languages and present evidence and arguments for two distinct claims: that Huh? is universal, and that it is a word. In support of the first, we show that the similarities in form and function of this interjection across languages are much greater than expected by chance. In support of the second claim we show that it is a lexical, conventionalised form that has to be learnt, unlike grunts or emotional cries. We discuss possible reasons for the cross-linguistic similarity and propose an account in terms of convergent evolution. Huh? is a universal word not because it is innate but because it is shaped by selective pressures in an interactional environment that all languages share: that of other-initiated repair. Our proposal enhances evolutionary models of language change by suggesting that conversational infrastructure can drive the convergent cultural evolution of linguistic items.

Abstract

Ideophones are often described as words that are highly expressive and morphosyntactically marginal. A study of ideophones in everyday conversations in Siwu (Kwa, eastern Ghana) reveals a landscape of variation and change that sheds light on some larger questions in the morphosyntactic typology of ideophones. The article documents a trade-off between expressiveness and morphosyntactic integration, with high expressiveness linked to low integration and vice versa. It also describes a pathway for deideophonisation and finds that frequency of use is a factor that influences the degree to which ideophones can come to be more like ordinary words. The findings have implications for processes of (de)ideophonisation, ideophone borrowing, and ideophone typology. A key point is that the internal diversity we find in naturally occurring data, far from being mere noise, is patterned variation that can help us to get a handle on the factors shaping ideophone systems within and across languages.

Abstract

People often begin stories in conversation by referring to person, time, and place. We study story beginnings in three societies and find place reference is recurrently used to (i) set the stage, foreshadowing the type of story and the kind of response due, and to (ii) make the story cohere, anchoring elements of the developing story. Recipients orient to these interactional affordances of place reference by responding in ways that attend to the relevance of place for the story and by requesting clarification when references are incongruent or noticeably absent. The findings are based on 108 story beginnings in three unrelated languages: Cha’palaa, a Barbacoan language of Ecuador; Northern Italian, a Romance language of Italy; and Siwu, a Kwa language of Ghana. The commonalities suggest we have identified generic affordances of place reference, and that storytelling in conversation offers a robust sequential environment for systematic comparative research on conversational structures.

Abstract

Do people who speak different languages think differently, even when they are not using language? To find out, we used nonlinguistic psychophysical tasks to compare mental representations of musical pitch in native speakers of Dutch and Farsi. Dutch speakers describe pitches as high (hoog) or low (laag), whereas Farsi speakers describe pitches as thin (na-zok) or thick (koloft). Differences in language were reflected in differences in performance on two pitch-reproduction tasks, even though the tasks used simple, nonlinguistic stimuli and responses. To test whether experience using language influences mental representations of pitch, we trained native Dutch speakers to describe pitch in terms of thickness, as Farsi speakers do. After the training, Dutch speakers’ performance on a nonlinguistic psychophysical task resembled the performance of native Farsi speakers. People who use different linguistic space-pitch metaphors also think about pitch differently. Language can play a causal role in shaping nonlinguistic representations of musical pitch.

Abstract

The Levelt, Noort and Drenth Committees make their sole and final rejoinder to criticisms of their report on the Stapel fraud

Abstract

Purpose This study investigated whether and to what extent iconic co-speech gestures contribute to information from visible speech to enhance degraded speech comprehension at different levels of noise-vocoding. Previous studies of the contributions of these 2 visual articulators to speech comprehension have only been performed separately.

Method Twenty participants watched videos of an actress uttering an action verb and completed a free-recall task. The videos were presented in 3 speech conditions (2-band noise-vocoding, 6-band noise-vocoding, clear), 3 multimodal conditions (speech + lips blurred, speech + visible speech, speech + visible speech + gesture), and 2 visual-only conditions (visible speech, visible speech + gesture).

Results Accuracy levels were higher when both visual articulators were present compared with 1 or none. The enhancement effects of (a) visible speech, (b) gestural information on top of visible speech, and (c) both visible speech and iconic gestures were larger in 6-band than 2-band noise-vocoding or visual-only conditions. Gestural enhancement in 2-band noise-vocoding did not differ from gestural enhancement in visual-only conditions.

Abstract

Previous studies examined various factors influencing voice recognition and learning with mixed results. The present study investigates the separate and combined contribution of these various speaker-, stimulus-, and listener-related factors to voice recognition. Dutch listeners, with arguably incomplete phonological and lexical knowledge in the target language, English, learned to recognize the voice of four native English speakers, speaking in English, during four-day training. Training was successful and listeners' accuracy was shown to be influenced by the acoustic characteristics of speakers and the sound composition of the words used in the training, but not by lexical frequency of the words, nor the lexical knowledge of the listeners or their phonological aptitude. Although not conclusive, listeners with a lower working memory capacity seemed to be slower in learning voices than listeners with a higher working memory capacity. The results reveal that speaker-related, listener-related, and stimulus-related factors accumulate in voice recognition, while lexical information turns out not to play a role in successful voice learning and recognition. This implies that voice recognition operates at the prelexical processing level.

Abstract

This paper presents the methods of language documentation as applied in the Awetí Language Documentation Project, one of the projects in the Documentation of Endangered Languages Programme (DOBES). It describes the steps of how a large digital corpus of annotated multi-media data is built. Special attention is devoted to the format of annotation of linguistic data. The Advanced Glossing format is presented and justified

Abstract

1. Object: Awetí and the ‘Mawetí-Guaraní’ subfamily “Mawetí-Guaraní” is a shorter designation of a branch of the large Tupí language family, alongside with eight other branches or subfamilies. This branch in turn consists internally of the languages (Sateré-) Mawé and Awetí and the large Tupí-Guaraní subfamily, and so its explicit but longish name could be “Mawé-Awetí-Tupí-Guaraní” (MTAG). This genetic grouping has already been suggested (without any specific designation) by A. D. Rodrigues (e.g., 1984/85; Rodrigues and Dietrich 1997), and, more recently, it has been confirmed by comparative studies (Corrêa da Silva 2007; Drude 2006; Meira and Drude in prep.), which also more reliably establish the most probable internal ramification, according to which Mawé separated first, whereas the differentiation between Awetí, on the one hand, and the precursor of the Tupí-Guaraní (TG) subfamily, proto-Tupí-Guaraní (pTG), on the other, would have been more recent. The intermediate branch could be named “Awetí-Tupí-Guaraní” (“Awetí-TG” or “ATG”). Figure 1 shows the internal grouping of the Tupí family according to results of the Tupí Comparative Project under D. Moore at the Museu Goeldi (2000–2006).

Abstract

Using various methods derived from evolutionary biology, including maximum parsimony and Bayesian phylogenetic analysis, we tackle the question of the relationships among a group of Papuan isolate languages that have hitherto resisted accepted attempts at demonstration of interrelatedness. Instead of using existing vocabulary-based methods, which cannot be applied to these languages due to the paucity of shared lexemes, we created a database of STRUCTURAL FEATURES—abstract phonological and grammatical features apart from their form. The methods are first tested on the closely related Oceanic languages spoken in the same region as the Papuan languages in question. We find that using biological methods on structural features can recapitulate the results of the comparative method tree for the Oceanic languages, thus showing that structural features can be a valid way of extracting linguistic history. Application of the same methods to the otherwise unrelatable Papuan languages is therefore likely to be similarly valid. Because languages that have been in contact for protracted periods may also converge, we outline additional methods for distinguishing convergence from inherited relatedness.

Abstract

The Aslian branch of Austroasiatic is recognised as the oldest recoverable language family in the Malay Peninsula, predating the now dominant Austronesian languages present today. In this paper we address the dynamics of the prehistoric spread of Aslian languages across the peninsula, including the languages spoken by Semang foragers, traditionally associated with the 'Negrito' phenotype. The received view of an early and uniform tripartite break-up of proto-Aslian in the Early Neolithic period, and subsequent differentiation driven by societal modes is challenged. We present a Bayesian phylogeographic analysis of our dataset of vocabulary from 28 Aslian varieties. An explicit geographic model of diffusion is combined with a cognate birth-word death model of lexical evolution to infer the location of the major events of Aslian cladogenesis. The resultant phylogenetic trees are calibrated against dates in the historical and archaeological record to extrapolate a detailed picture of Aslian language history. We conclude that a binary split between Southern Aslian and the rest of Aslian took place in the Early Neolithic (4000 BP). This was followed much later in the Late Neolithic (2000-3000 BP) by a tripartite branching into Central Aslian, Jah Hut and Northern Aslian. Subsequent internal divisions within these sub-clades took place in the Early Metal Phase (post-2000 BP). Significantly, a split in Northern Aslian between Ceq Wong and the languages of the Semang was a late development and is proposed here to coincide with the adoption of Aslian by the Semang foragers. Given the difficulties involved in associating archaeologically recorded activities with linguistic events, as well as the lack of historical sources, our results remain preliminary. However, they provide sufficient evidence to prompt a rethinking of previous models of both clado- and ethno-genesis within the Malay Peninsula.

Abstract

Written and verbal languages are neurobehavioral traits vital to the development of communication skills. Unfortunately, disorders involving these traits-specifically reading disability (RD) and language impairment (LI)-are common and prevent affected individuals from developing adequate communication skills, leaving them at risk for adverse academic, socioeconomic and psychiatric outcomes. Both RD and LI are complex traits that frequently co-occur, leading us to hypothesize that these disorders share genetic etiologies. To test this, we performed a genome-wide association study on individuals affected with both RD and LI in the Avon Longitudinal Study of Parents and Children. The strongest associations were seen with markers in ZNF385D (OR = 1.81, P = 5.45 × 10(-7) ) and COL4A2 (OR = 1.71, P = 7.59 × 10(-7) ). Markers within NDST4 showed the strongest associations with LI individually (OR = 1.827, P = 1.40 × 10(-7) ). We replicated association of ZNF385D using receptive vocabulary measures in the Pediatric Imaging Neurocognitive Genetics study (P = 0.00245). We then used diffusion tensor imaging fiber tract volume data on 16 fiber tracts to examine the implications of replicated markers. ZNF385D was a predictor of overall fiber tract volumes in both hemispheres, as well as global brain volume. Here, we present evidence for ZNF385D as a candidate gene for RD and LI. The implication of transcription factor ZNF385D in RD and LI underscores the importance of transcriptional regulation in the development of higher order neurocognitive traits. Further study is necessary to discern target genes of ZNF385D and how it functions within neural development of fluent language.

Abstract

Familial hemiplegic migraine type 1 (FHM1) is a
rare monogenic subtype of migraine with aura caused by mutations
in CACNA1A that encodes the α1A subunit of voltagegated
CaV2.1 calcium channels. Transgenic knock-in mice
that carry the human FHM1 R192Q missense mutation
(‘FHM1 R192Q mice’) exhibit an increased susceptibility to
cortical spreading depression (CSD), the mechanism underlying
migraine aura. Here, we analysed gene expression profiles
from isolated cortical tissue of FHM1 R192Q mice 24 h after
experimentally induced CSD in order to identify molecular
pathways affected by CSD. Gene expression profiles were
generated using deep serial analysis of gene expression sequencing.
Our data reveal a signature of inflammatory signalling
upon CSD in the cortex of both mutant and wild-type
mice. However, only in the brains of FHM1 R192Q mice
specific genes are up-regulated in response to CSD that are
implicated in interferon-related inflammatory signalling. Our
findings show that CSD modulates inflammatory processes in
both wild-type and mutant brains, but that an additional
unique inflammatory signature becomes expressed after
CSD in a relevant mouse model of migraine.

Abstract

Migraine is a disabling common brain disorder typically characterized by attacks of severe headache and associated with autonomic and neurological symptoms. Its etiology is far from resolved. This review will focus on evidence that epigenetic mechanisms play an important role in disease etiology. Epigenetics comprise both DNA methylation and post-translational modifications of the tails of histone proteins, affecting chromatin structure and gene expression. Besides playing a role in establishing cellular and developmental stage-specific regulation of gene expression, epigenetic processes are also important for programming lasting cellular responses to environmental signals. Epigenetic mechanisms may explain how non-genetic endogenous and exogenous factors such as female sex hormones, stress hormones and inflammation trigger may modulate attack frequency. Developing drugs that specifically target epigenetic mechanisms may open up exciting new avenues for the prophylactic treatment of migraine.

Abstract

Cluster headache is a relatively rare headache disorder, typically characterized by multiple daily, short-lasting attacks of excruciating, unilateral (peri-)orbital or temporal pain associated with autonomic symptoms and restlessness. To better understand the pathophysiology of cluster headache, we used RNA sequencing to identify differentially expressed genes and pathways in whole blood of patients with episodic (n = 19) or chronic (n = 20) cluster headache in comparison with headache-free controls (n = 20). Gene expression data were analysed by gene and by module of co-expressed genes with particular attention to previously implicated disease pathways including hypocretin dysregulation. Only moderate gene expression differences were identified and no associations were found with previously reported pathogenic mechanisms. At the level of functional gene sets, associations were observed for genes involved in several brain-related mechanisms such as GABA receptor function and voltage-gated channels. In addition, genes and modules of co-expressed genes showed a role for intracellular signalling cascades, mitochondria and inflammation. Although larger study samples may be required to identify the full range of involved pathways, these results indicate a role for mitochondria, intracellular signalling and inflammation in cluster headache