Publications

Abstract

In the recent past the work on large-scale linguistic distributions across the globe has intensified considerably. Work on macro-areal relationships in Africa (Güldemann, 2010) suggests that the shape of convergence areas may be determined by climatic factors and geophysical features such as mountains, water bodies, coastlines, etc. Worldwide data is now available for geophysical features as well as linguistic features, including numeral systems and basic constituent order. We explore the possibility that the shape of areal aggregations of individual features in these two linguistic domains correlates with Köppen-Geiger climate zones. Furthermore, we test the hypothesis that the shape of such areal feature aggregations is determined by the contour of adjacent geophysical features like mountain ranges or coastlines. In these first basic tests, we do not find clear evidence that either Köppen-Geiger climate zones or the contours of geophysical features are major predictors for the linguistic data at hand

Abstract

While the notion of the ‘area’ or ‘Sprachbund’ has a long history in linguistics, with geographically-defined regions frequently cited as a useful means to explain typological distributions, the problem of delimiting areas has not been well addressed. Lists of general-purpose, largely independent ‘macro-areas’ (typically continent size) have been proposed as a step to rule out contact as an explanation for various large-scale linguistic phenomena. This squib points out some problems in some of the currently widely-used predetermined areas, those found in the World Atlas of Language Structures (Haspelmath et al., 2005). Instead, we propose a principled division of the world’s landmasses into six macro-areas that arguably have better geographical independence properties

Abstract

The present paper seeks to clarify the position of the Maco [wpc] language of the lower Ventuari, Venezuela, since there has been some uncertainty in the literature on this matter. Maco-Ventuari, not to be confused with other languages with a similar name, is so far poorly documented, but the present paper shows that it is nevertheless possible to show that it is a dialect of Piaroa or a language closely related to Piaroa

Abstract

The present paper describes the ongoing project LangDoc to make a bibliography website for linguistic typology, with a near-complete database of references to documents that contain descriptive data on the languages of the world. This is intended to provide typologists with a more precise and comprehensive way to search for information on languages, and for the specific kind information that they are interested in. The annotation scheme devised is a trade-off between annotation effort and search desiderata. The end goal is a website with browse, search, update, new items subscription and download facilities, which can hopefully be enriched by spontaneous collaborative efforts.

Abstract

This article surveys work on Unsupervised Learning of Morphology. We define Unsupervised Learning of Morphology as the problem of inducing a description (of some kind, even if only morpheme segmentation) of how orthographic words are built up given only raw text data of a language. We briefly go through the history and motivation of this problem. Next, over 200 items of work are listed with a brief characterization, and the most important ideas in the field are critically discussed. We summarize the achievements so far and give pointers for future developments.

Abstract

Rheumatoid arthritis is the most common systematic autoimmune disease and its etiology is believed to have both strong genetic and environmental components. We demonstrate the utility of including genetic and clinical phenotypes as covariates within a linkage analysis framework to search for rheumatoid arthritis susceptibility loci. The raw genotypes of 1302 affected relative pairs were combined from four large family-based samples (North American Rheumatoid Arthritis Consortium, United Kingdom, European Consortium on Rheumatoid Arthritis Families, and Canada). The familiality of the clinical phenotypes was assessed. The affected relative pairs were subjected to autosomal multipoint affected relative-pair linkage analysis. Covariates were included in the linkage analysis to take account of heterogeneity within the sample. Evidence of familiality was observed with age at onset (p <} 0.001) and rheumatoid factor (RF) IgM (p {< 0.001), but not definite erosions (p = 0.21). Genome-wide significant evidence for linkage was observed on chromosome 6. Genome-wide suggestive evidence for linkage was observed on chromosomes 13 and 20 when conditioning on age at onset, chromosome 15 conditional on gender, and chromosome 19 conditional on RF IgM after allowing for multiple testing of covariates.

Abstract

We examined whether Slovak-German bilinguals apply native Slovak phonological and lexical knowledge when segmenting German speech. When Slovaks listen to their native language (Hanulíková, McQueen, & Mitterer, 2010), segmentation is impaired when fixed-stress cues are absent, and, following the Possible-Word Constraint (PWC; Norris, McQueen, Cutler, & Butterfield, 1997), lexical candidates are disfavored if segmentation leads to vowelless residues, unless those residues are existing Slovak words. In the present study, fixed-stress cues on German target words were again absent. Nevertheless, in support of the PWC, both German and Slovak listeners recognized German words (e.g., Rose "rose") faster in syllable contexts (suckrose) than in single- onsonant contexts (krose, trose). But only the Slovak listeners recognized Rose, for example, faster in krose than in trose (k is a Slovak word, t is not). It appears that non-native listeners can suppress native stress segmentation procedures, but that they suffer from prevailing interference from native lexical knowledge

Abstract

Bilinguals are slower when naming a picture in their second language than when naming it in their first language. Although the phenomenon has been frequently replicated, it is not known what causes the delay in the second language. In this article we discuss at what processing stages a delay might arise according to current models of bilingual processing and how the available behavioural and neurocognitive evidence relates to these proposals. Suggested plausible mechanisms, such as frequency or interference effects, are compatible with a naming delay arising at different processing stages. Haemodynamic and electrophysiological data seem to point to a postlexical stage but are still too scarce to support a definite conclusion.

Abstract

Recent decades have ushered in tremendous progress in understanding the neural basis of language. Most of our current knowledge on language and the brain, however, is derived from lab-based experiments that are far removed from everyday language use, and that are inspired by questions originating in linguistic and psycholinguistic contexts. In this paper we argue that in order to make progress, the field needs to shift its focus to understanding the neurobiology of naturalistic language comprehension. We present here a new conceptual framework for understanding the neurobiological organization of language comprehension. This framework is non-language-centered in the computational/neurobiological constructs it identifies, and focuses strongly on context. Our core arguments address three general issues: (i) the difficulty in extending language-centric explanations to discourse; (ii) the necessity of taking context as a serious topic of study, modeling it formally and acknowledging the limitations on external validity when studying language comprehension outside context; and (iii) the tenuous status of the language network as an explanatory construct. We argue that adopting this framework means that neurobiological studies of language will be less focused on identifying correlations between brain activity patterns and mechanisms postulated by psycholinguistic theories. Instead, they will be less self-referential and increasingly more inclined towards integration of language with other cognitive systems, ultimately doing more justice to the neurobiological organization of language and how it supports language as it is used in everyday life.

Abstract

All primates learn things from conspecifics socially, but it is not clear whether they conform to the behavior of these conspecifics—if conformity is defined as overriding individually acquired behavioral tendencies in order to copy peers’ behavior. In the current study, chimpanzees, orangutans, and 2-year-old human children individually acquired a problem-solving strategy. They then watched several conspecific peers demonstrate an alternative strategy. The children switched to this new, socially demonstrated strategy in roughly half of all instances, whereas the other two great-ape species almost never adjusted their behavior to the majority’s. In a follow-up study, children switched much more when the peer demonstrators were still present than when they were absent, which suggests that their conformity arose at least in part from social motivations. These results demonstrate an important difference between the social learning of humans and great apes, a difference that might help to account for differences in human and nonhuman cultures

Abstract

Both adults and adolescents often conform their behavior and opinions to peer groups, even when they themselves know better. The current study investigated this phenomenon in 24 groups of 4 children between 4;2 and 4;9 years of age. Children often made their judgments conform to those of 3 peers, who had made obviously erroneous but unanimous public judgments right before them. A follow-up study with 18 groups of 4 children between 4;0 and 4;6 years of age revealed that children did not change their “real” judgment of the situation, but only their public expression of it. Preschool children are subject to peer pressure, indicating sensitivity to peers as a primary social reference group already during the preschool years.

Abstract

Despite the global universality of physical space, different cultural groups vary substantially as to how they memorize it. Although European participants mostly prefer egocentric strategies (“left, right, front, back”) to memorize spatial relations, others use mostly allocentric strategies (“north, south, east, west”). Prior research has shown that some cultures show a general preference to memorize object locations and even also body movements in relation to the larger environment rather than in relation to their own body. Here, we investigate whether this cultural bias also applies to movements specifically directed at the participants' own body, emphasizing the role of ego. We show that even participants with generally allocentric biases preferentially memorize self-directed movements using egocentric spatial strategies. These results demonstrate an intricate system of interacting cultural biases and momentary situational characteristics.

Abstract

We investigate decision-making behaviour in all four non-human great ape species. Apes chose between a safe and a risky option across trials of varying expected values. All species chose the safe option more often with decreasing probability of success. While all species were risk-seeking, orangutans and chimpanzees chose the risky option more often than gorillas and bonobos. Hence all four species' preferences were ordered in a manner consistent with normative dictates of expected value, but varied predictably in their willingness to take risks.

Abstract

The present paper explores cross-cultural variation in spatial cognition by comparing spatial reconstruction tasks by Dutch and Namibian elementary school children. These two communities differ in the way they predominantly express spatial relations in language. Four experiments investigate cognitive strategy preferences across different levels of task-complexity and instruction. Data show a correlation between dominant linguistic spatial frames of reference and performance patterns in non-linguistic spatial memory tasks. This correlation is shown to be stable across an increase of complexity in the spatial array. When instructed to use their respective non-habitual cognitive strategy, participants were not easily able to switch between strategies and their attempts to do so impaired their performance. These results indicate a difference not only in preference but also in competence and suggest that spatial language and non-linguistic preferences and competences in spatial cognition are systematically aligned across human populations.

Abstract

Literacy affects many aspects of cognitive and linguistic processing. Among them, it increases the salience of words as units of linguistic processing. Here, we explored the impact of literacy acquisition on children’s learning of an artifical language. Recent accounts of L1–L2 differences relate adults’ greater difficulty with language learning to their smaller reliance on multiword units. In particular, multiword units are claimed to be beneficial for learning opaque grammatical relations like grammatical gender. Since literacy impacts the reliance on words as units of processing, we ask if and how acquiring literacy may change children’s language-learning results. We looked at children’s success in learning novel noun labels relative to their success in learning article-noun gender agreement, before and after learning to read. We found that preliterate first graders were better at learning agreement (larger units) than at learning nouns (smaller units), and that the difference between the two trial types significantly decreased after these children acquired literacy. In contrast, literate third graders were as good in both trial types. These findings suggest that literacy affects not only language processing, but also leads to important differences in language learning. They support the idea that some of children’s advantage in language learning comes from their previous knowledge and experience with language—and specifically, their lack of experience with written texts.

Abstract

Objective
The aim was to assess whether loci associated with metabolic traits also have a significant role in BMI and mental traits/disorders
Methods
We first assessed the number of single nucleotide polymorphisms (SNPs) with genome-wide significance for human metabolism (NHGRI-EBI Catalog). These 516 SNPs (216 independent loci) were looked-up in genome-wide association studies for association with body mass index (BMI) and the mental traits/disorders educational attainment, neuroticism, schizophrenia, well-being, anxiety, depressive symptoms, major depressive disorder, autism-spectrum disorder, attention-deficit/hyperactivity disorder, Alzheimer's disease, bipolar disorder, aggressive behavior, and internalizing problems. A strict significance threshold of p < 6.92 × 10−6 was based on the correction for 516 SNPs and all 14 phenotypes, a second less conservative threshold (p < 9.69 × 10−5) on the correction for the 516 SNPs only.
Results
19 SNPs located in nine independent loci revealed p-values < 6.92 × 10−6; the less strict criterion was met by 41 SNPs in 24 independent loci. BMI and schizophrenia showed the most pronounced genetic overlap with human metabolism with three loci each meeting the strict significance threshold. Overall, genetic variation associated with estimated glomerular filtration rate showed up frequently; single metabolite SNPs were associated with more than one phenotype. Replications in independent samples were obtained for BMI and educational attainment.
Conclusions
Approximately 5–10% of the regions involved in the regulation of blood/urine metabolite levels seem to also play a role in BMI and mental traits/disorders and related phenotypes. If validated in metabolomic studies of the respective phenotypes, the associated blood/urine metabolites may enable novel preventive and therapeutic strategies.

Abstract

The interaction between C-X-C chemokine receptor type 4 (CXCR4) and its cognate ligand C-X-C motif chemokine ligand 12 (CXCL12) plays a critical role in regulating hematopoietic stem cell activation and subsequent cellular mobilization. Extensive studies of these genes have been conducted in mammals, but much less is known about the expression and function of CXCR4 and CXCL12 in non-mammalian vertebrates. In the present study, we identify simultaneous expression of CXCR4 and CXCL12 orthologs in the epigonal organ (the primary hematopoietic tissue) of the little skate, Leucoraja erinacea. Genetic and phylogenetic analyses were functionally supported by significant mobilization of leukocytes following administration of Plerixafor, a CXCR4 antagonist and clinically important drug. Our results provide evidence that, as in humans, Plerixafor disrupts CXCR4/CXCL12 binding in the little skate, facilitating release of leukocytes into the bloodstream. Our study illustrates the value of the little skate as a model organism, particularly in studies of hematopoiesis and potentially for preclinical research on hematological and vascular disorders.

Abstract

The multilingual brain implements mechanisms that serve to select the appropriate language as a function of the communicative environment. Engaging these mechanisms on a regular basis appears to have consequences for brain structure and function. Studies have implicated the caudate nuclei as important nodes in polyglot language control processes, and have also shown structural differences in the caudate nuclei in bilingual compared to monolingual populations. However, the majority of published work has focused on the categorical differences between monolingual and bilingual individuals, and little is known about whether these findings extend to multilingual individuals, who have even greater language control demands. In the present paper, we present an analysis of the volume and morphology of the caudate nuclei, putamen, pallidum and thalami in 75 multilingual individuals who speak three or more languages. Volumetric analyses revealed a significant relationship between multilingual experience and right caudate volume, as well as a marginally significant relationship with left caudate volume. Vertex-wise analyses revealed a significant enlargement of dorsal and anterior portions of the left caudate nucleus, known to have connectivity with executive brain regions, as a function of multilingual expertise. These results suggest that multilingual expertise might exercise a continuous impact on brain structure, and that as additional languages beyond a second are acquired, the additional demands for linguistic and cognitive control result in modifications to brain structures associated with language management processes.

Abstract

Bilingual listeners comprehend speech-in-noise better in their native than non-native language. This native-language benefit is thought to arise from greater use of top-down linguistic information to assist degraded speech comprehension. Using functional magnetic resonance imaging, we recently showed that left angular gyrus activation is modulated when semantic context is used to assist native language speech-in-noise comprehension (Golestani, Hervais-Adelman, Obleser, & Scott, 2013). Here, we extend the previous work, by reanalyzing the previous data alongside the results obtained in the non-native language of the same late bilingual participants. We found a behavioral benefit of semantic context in processing speech-in-noise in the native language only, and the imaging results also revealed a native language context effect in the left angular gyrus. We also find a complementary role of lower-level auditory regions during stimulus-driven processing. Our findings help to elucidate the neural basis of the established native language behavioral benefit of speech-in-noise processing. (C) 2014 Elsevier Inc. All rights reserved.

Abstract

A commentary on
Broca Pars Triangularis Constitutes a “Hub” of the Language-Control Network during Simultaneous Language Translation

by Elmer, S. (2016). Front. Hum. Neurosci. 10:491. doi: 10.3389/fnhum.2016.00491

Elmer (2016) conducted an fMRI investigation of “simultaneous language translation” in five participants. The article presents group and individual analyses of German-to-Italian and Italian-to-German translation, confined to a small set of anatomical regions previously reported to be involved in multilingual control. Here we take the opportunity to discuss concerns regarding certain aspects of the study.

Abstract

Recent work demonstrates that learning to understand noise-vocoded (NV) speech alters sublexical perceptual processes but is enhanced by the simultaneous provision of higher-level, phonological, but not lexical content (Hervais-Adelman, Davis, Johnsrude, & Carlyon, 2008), consistent with top-down learning (Davis, Johnsrude, Hervais-Adelman, Taylor, & McGettigan, 2005; Hervais-Adelman et al., 2008). Here, we investigate whether training listeners with specific types of NV speech improves intelligibility of vocoded speech with different acoustic characteristics. Transfer of perceptual learning would provide evidence for abstraction from variable properties of the speech input. In Experiment 1, we demonstrate that learning of NV speech in one frequency region generalizes to an untrained frequency region. In Experiment 2, we assessed generalization among three carrier signals used to create NV speech: noise bands, pulse trains, and sine waves. Stimuli created using these three carriers possess the same slow, time-varying amplitude information and are equated for naive intelligibility but differ in their temporal fine structure. Perceptual learning generalized partially, but not completely, among different carrier signals. These results delimit the functional and neural locus of perceptual learning of vocoded speech. Generalization across frequency regions suggests that learning occurs at a stage of processing at which some abstraction from the physical signal has occurred, while incomplete transfer across carriers indicates that learning occurs at a stage of processing that is sensitive to acoustic features critical for speech perception (e.g., noise, periodicity).

Abstract

In this review we will focus on delineating the neural substrates of the executive control of language in the bilingual brain, based on the existing neuroimaging, intracranial, transcranial magnetic stimulation, and neuropsychological evidence. We will also offer insights from ongoing brain-imaging studies into the development of expertise in multilingual language control. We will concentrate specifically on evidence regarding how the brain selects and controls languages for comprehension and production. This question has been addressed in a number of ways and using various tasks, including language switching during production or perception, translation, and interpretation. We will attempt to synthesize existing evidence in order to bring to light the neural substrates that are crucial to executive control of language.

Abstract

Superiority in visual search for individuals diagnosed with autism spectrum disorder (ASD) is a well-reported finding. We administered two visual search tasks to individuals with ASD and matched controls. One showed no difference between the groups, and one did show the expected superior performance for individuals with ASD. These results offer an explanation, formulated in terms of load theory. We suggest that there is a limit to the superiority in visual search for individuals with ASD, related to the perceptual load of the stimuli. When perceptual load becomes so high that no additional task-(ir)relevant information can be processed, performance will be based on single stimulus identification, in which no differences between individuals with ASD and controls have been demonstrated

Abstract

Epilepsy is a frequent feature of neurodevelopmental disorders (NDDs), but little is known about genetic differences between NDDs with and without epilepsy. We analyzed de novo variants (DNVs) in 6,753 parent–offspring trios ascertained to have different NDDs. In the subset of 1,942 individuals with NDDs with epilepsy, we identified 33 genes with a significant excess of DNVs, of which SNAP25 and GABRB2 had previously only limited evidence of disease association. Joint analysis of all individuals with NDDs also implicated CACNA1E as a novel disease-associated gene. Comparing NDDs with and without epilepsy, we found missense DNVs, DNVs in specific genes, age of recruitment, and severity of intellectual disability to be associated with epilepsy. We further demonstrate the extent to which our results affect current genetic testing as well as treatment, emphasizing the benefit of accurate genetic diagnosis in NDDs with epilepsy.

Abstract

Participants’ performance differs when conducting a task in the presence of a secondary individual, moreover the opinion the participant has of this individual also plays a role. Using EEG, we investigated how previous interactions with, and evaluations of, an avatar in virtual reality subsequently influenced attentional allocation to the face of that avatar. We focused on changes in the alpha activity as an index of attentional allocation. We found that the onset of an avatar’s face whom the participant had developed a rapport with induced greater alpha suppression. This suggests greater attentional resources are allocated to the interacted-with avatars. The evaluative ratings of the avatar induced a U-shaped change in alpha suppression, such that participants paid most attention when the avatar was rated as average. These results suggest that attentional allocation is an important element of how behaviour is altered in the presence of a secondary individual and is modulated by our opinion of that individual.

Abstract

Imagine describing the particular characteristics of the hue of a flower, or the quality of its scent, or the texture of its petal. Introspection suggests the expression of such sensory experiences in words is something quite different than the task of naming artifacts. The particular challenges in the linguistic encoding of sensorial experiences pose questions regarding how languages manage semantic gaps and “ineffability.” That is, what strategies do speakers have available to manage phenomena or domains of experience that are inexpressible or difficult to express in their language? This article considers this issue with regard to color in Umpila, an Aboriginal Australian language of the Paman family. The investigation of color naming and ineffability in Umpila reveals rich associations and mappings between color and visual perceptual qualities more generally, categorization of the human social world, and the environment. “Gaps” in the color system are filled or supported by associations with two of the most linguistically and culturally salient domains for Umpila - kinship and the environment

Abstract

During conversation, people integrate information from co-speech hand gestures with information in spoken language. For example, after hearing the sentence, "A piece of the log flew up and hit Carl in the face" while viewing a gesture directed at the nose, people tend to later report that the log hit Carl in the nose (information only in gesture) rather than in the face (information in speech). The cognitive and neural mechanisms that support the integration of gesture with speech are unclear. One possibility is that the hippocampus known for its role in relational memory and information integration is necessary for integrating gesture and speech. To test this possibility, we examined how patients with hippocampal amnesia and healthy and brain-damaged comparison participants express information from gesture in a narrative retelling task. Participants watched videos of an experimenter telling narratives that included hand gestures that contained supplementary information. Participants were asked to retell the narratives and their spoken retellings were assessed for the presence of information from gesture. For features that had been accompanied by supplementary gesture, patients with amnesia retold fewer of these features overall and fewer retellings that matched the speech from the narrative. Yet their retellings included features that contained information that had been present uniquely in. gesture in amounts that were not reliably different from comparison groups. Thus, a functioning hippocampus is not necessary for gesture-speech integration over short timescales. Providing unique information in gesture may enhance communication for individuals with declarative memory impairment, possibly via non-declarative memory mechanisms.

Abstract

Theories of embodied language comprehension have proposed that language is understood through perceptual simulation of the sensorimotor characteristics of its meaning. Strong support for this claim requires demonstration of encoding-based activation of sensorimotor representations that is distinct from task-related or goal-driven processes. Participants in 3 eye-tracking experiments were presented with triplets of either numbers or object and animal names. In Experiment 1, participants indicated whether the size of the referent of the middle object or animal name was in between the size of the 2 outer items. In Experiment 2, the object and animal names were encoded for an immediate recognition memory task. In Experiment 3, participants completed the same comparison task of Experiment 1 for both words and numbers. During the comparison tasks, word and number decision times showed a symbolic distance effect, such that response time was inversely related to the size difference between the items. A symbolic distance effect was also observed for animal and object encoding times in cases where encoding time likely reflected some goal-driven processes as well. When semantic size was irrelevant to the task (Experiment 2), it had no effect on word encoding times. Number encoding times showed a numerical distance priming effect: Encoding time increased with numerical difference between items. Together these results suggest that while activation of numerical magnitude representations is encoding-based as well as goal-driven, activation of size information associated with words is goal-driven and does not occur automatically during encoding. This conclusion challenges strong theories of embodied cognition which claim that language comprehension consists of activation of analog sensorimotor representations irrespective of higher level processes related to context or task-specific goals

Abstract

Two eye-tracking experiments were conducted in which the manual response mode typically used in lexical decision tasks (LDTs) was replaced with an eye-movement response through a sequence of 3 words. This ocular LDT combines the explicit control of task goals found in LDTs with the highly practiced ocular response used in reading text. In Experiment 1, forward saccades indicated an affirmative lexical decision (LD) on each word in the triplet. In Experiment 2, LD responses were delayed until all 3 letter strings had been read. The goal of the study was to evaluate the contribution of task goals and response mode to semantic priming. Semantic priming is very robust in tasks that involve recognition of words in isolation, such as LDT, but limited during text reading, as measured using eye movements. Gaze durations in both experiments showed robust semantic priming even though ocular response times were much shorter than manual LDs for the same words in the English Lexicon Project. Ex-Gaussian distribution fits revealed that the priming effect was concentrated in estimates of tau (τ), meaning that priming was most pronounced in the slow tail of the distribution. This pattern shows differential use of the prime information, which may be more heavily recruited in cases in which the LD is difficult, as indicated by longer response times. Compared with the manual LD responses, ocular LDs provide a more sensitive measure of this task-related influence on word recognition as measured by the LDT.

Abstract

How do conversational participants continue with turn-by-turn talk after a momentary lapse? If all participants forgo the option to speak at possible sequence completion, an extended silence may emerge that can indicate a lack of anything to talk about next. For the interaction to proceed recognizably as a conversation, the postlapse turn needs to implicate more talk. Using conversation analysis, I examine three practical alternatives regarding sequentially implicative postlapse turns: Participants may move to end the interaction, continue with some prior matter, or start something new. Participants are shown using resources grounded in the interaction’s overall structural organization, the materials from the interaction-so-far, the mentionables they bring to interaction, and the situated environment itself. Comparing these alternatives, there’s suggestive quantitative evidence for a preference for continuation. The analysis of lapse resolution shows lapses as places for the management of multiple possible courses of action. Data are in U.S. and UK English.

Abstract

Participants in interaction routinely orient to gaze, bodily comportment, and nonlexical vocalizations as salient for developing an analysis of the unfolding course of action. In this article, I address the respiratory phenomenon of sighing, the aim being to describe sighing as a situated practice that contributes to the achievement of particular actions in interaction. I report on the various actions sighs implement or construct and how their positioning and delivery informs participants’ understandings of their significance for interaction. Data are in American English

Abstract

Background: Individuals with autism spectrum disorder (ASD) and their parents demonstrate impaired performance in rapid automatized naming (RAN), a task that recruits a variety of linguistic and executive processes. Though the basic processes that contribute to RAN differences remain unclear, eye-voice relationships, as measured through eye tracking, can provide insight into cognitive and perceptual processes contributing to RAN performance. For example, in RAN, eye-voice span (EVS), the distance ahead the eyes are when articulation of a target item's label begins, is an indirect measure of automaticity of the processes underlying RAN. The primary objective of this study was to investigate automaticity in naming processes, as indexed by EVS during RAN. The secondary objective was to characterize RAN difficulties in individuals with ASD and their siblings. Methods: Participants (aged 15 – 33 years) included 21 individuals with ASD, 23 siblings of individuals with ASD, and 24 control subjects, group-matched on chronological age. Naming time, frequency of errors, and EVS were measured during a RAN task and compared across groups. Results: A stepwise pattern of RAN performance was observed, with individuals with ASD demonstrating the slowest naming across all RAN conditions, controls demonstrating the fastest naming, and siblings demonstrating intermediate performance. Individuals with ASD exhibited smaller EVSs than controls on all RAN conditions, and siblings exhibited smaller EVSs during number naming (the most highly automatized type of naming). EVSs were correlated with naming times in controls only, and only in the more automatized conditions. Conclusions: These results suggest that reduced automaticity in the component processes of RAN may underpin differences in individuals with ASD and their siblings. These findings also provide further support that RAN abilities are impacted by genetic liability to ASD. This study has important implications for understanding the underlying skills contributing to language-related deficits in ASD.

Abstract

Mimicry has been observed regarding a range of nonverbal behaviors, but only recently have researchers started to investigate mimicry in co-speech gestures. These gestures are considered to be crucially different from other aspects of nonverbal behavior due to their tight link with speech. This study provides evidence of mimicry in co-speech gestures in face-to-face dialogue, the most common forum of everyday talk. In addition, it offers an analysis of the functions that mimicked co-speech gestures fulfill in the collaborative process of creating a mutually shared understanding of referring expressions. The implications bear on theories of gesture production, research on grounding, and the mechanisms underlying behavioral mimicry.

Abstract

There is evidence that co-speech gestures communicate information to addressees and that they are often communicatively intended. However, we still know comparatively little about the role of gestures in the actual process of communication. The present study offers a systematic investigation of speakers’ gesture use before and after addressee feedback. The findings show that when speakers responded to addressees’ feedback gesture rate remained constant when this feedback encouraged clarification, elaboration or correction. However, speakers gestured proportionally less often after feedback when providing confirmatory responses. That is, speakers may not be drawing on gesture in response to addressee feedback per se, but particularly with responses that enhance addressees’ understanding. Further, the large majority of speakers’ gestures changed in their form. They tended to be more precise, larger, or more visually prominent after feedback. Some changes in gesture viewpoint were also observed. In addition, we found that speakers used deixis in speech and gaze to increase the salience of gestures occurring in response to feedback. Speakers appear to conceive of gesture as a useful modality in redesigning utterances to make them more accessible to addressees. The findings further our understanding of recipient design and co-speech gestures in face-to-face dialogue.
Highlights

► Gesture rate remains constant in response to addressee feedback when the response aims to correct or clarify understanding. ► But gesture rate decreases when speakers provide confirmatory responses to feedback signalling correct understanding. ► Gestures are more communicative in response to addressee feedback, particularly in terms of precision, size and visual prominence. ► Speakers make gestures in response to addressee feedback more salient by using deictic markers in speech and gaze.

Abstract

The home of human language use is face-to-face interaction, a context in which communicative exchanges are characterised not only by bodily signals accompanying what is being said but also by a pattern of alternating turns at talk. This transition between turns is astonishingly fast—typically a mere 200-ms elapse between a current and a next speaker’s contribution—meaning that comprehending, producing, and coordinating conversational contributions in time is a significant challenge. This begs the question of whether the additional information carried by bodily signals facilitates or hinders language processing in this time-pressured environment. We present analyses of multimodal conversations revealing that bodily signals appear to profoundly influence language processing in interaction: Questions accompanied by gestures lead to shorter turn transition times—that is, to faster responses—than questions without gestures, and responses come earlier when gestures end before compared to after the question turn has ended. These findings hold even after taking into account prosodic patterns and other visual signals, such as gaze. The empirical findings presented here provide a first glimpse of the role of the body in the psycholinguistic processes underpinning human communication

Abstract

In human face-to-face communication, language comprehension is a multi-modal, situated activity. However, little is known about how we combine information from different modalities during comprehension, and how perceived communicative intentions, often signaled through visual signals, influence this process. We explored this question by simulating a multi-party communication context in which a speaker alternated her gaze between two recipients. Participants viewed speech-only or speech + gesture object-related messages when being addressed (direct gaze) or unaddressed (gaze averted to other participant). They were then asked to choose which of two object images matched the speaker’s preceding message. Unaddressed recipients responded significantly more slowly than addressees for speech-only utterances. However, perceiving the same speech accompanied by gestures sped unaddressed recipients up to a level identical to that of addressees. That is, when unaddressed recipients’ speech processing suffers, gestures can enhance the comprehension of a speaker’s message. We discuss our findings with respect to two hypotheses attempting to account for how social eye gaze may modulate multi-modal language comprehension.

Abstract

This paper describes a computerized alternative to glottochronology for estimating elapsed time since parent languages diverged into daughter languages. The method, developed by the Automated Similarity Judgment Program (ASJP) consortium, is different from glottochronology in four major respects: (1) it is automated and thus is more objective, (2) it applies a uniform analytical approach to a single database of worldwide languages, (3) it is based on lexical similarity as determined from Levenshtein (edit) distances rather than on cognate percentages, and (4) it provides a formula for date calculation that mathematically recognizes the lexical heterogeneity of individual languages, including parent languages just before their breakup into daughter languages. Automated judgments of lexical similarity for groups of related languages are calibrated with historical, epigraphic, and archaeological divergence dates for 52 language groups. The discrepancies between estimated and calibration dates are found to be on average 29% as large as the estimated dates themselves, a figure that does not differ significantly among language families. As a resource for further research that may require dates of known level of accuracy, we offer a list of ASJP time depths for nearly all the world’s recognized language families and for many subfamilies.

Abstract

In face-to-face communication, recurring intervals of mutual gaze allow listeners to provide speakers with visual feedback (e.g. nodding). Here, we investigate the potential feedback function of one of the subtlest of human movements—eye blinking. While blinking tends to be subliminal, the significance of mutual gaze in human interaction raises the question whether the interruption of mutual gaze through blinking may also be communicative. To answer this question, we developed a novel, virtual reality-based experimental paradigm, which enabled us to selectively manipulate blinking in a virtual listener, creating small differences in blink duration resulting in ‘short’ (208 ms) and ‘long’ (607 ms) blinks. We found that speakers unconsciously took into account the subtle differences in listeners’ blink duration, producing substantially shorter answers in response to long listener blinks. Our findings suggest that, in addition to physiological, perceptual and cognitive functions, listener blinks are also perceived as communicative signals, directly influencing speakers’ communicative behavior in face-to-face communication. More generally, these findings may be interpreted as shedding new light on the evolutionary origins of mental-state signaling, which is a crucial ingredient for achieving mutual understanding in everyday social interaction.

Abstract

The FOXP2 transcription factor is one of the most well-known genes to have been implicated in developmental speech and language disorders. Rare mutations disrupting the function of this gene have been described in different families and cases. In a large three-generation family carrying a missense mutation, neuroimaging studies revealed significant effects on brain structure and function, most notably in the inferior frontal gyrus, caudate nucleus and cerebellum. After the identification of rare disruptive FOXP2 variants impacting on brain structure, several reports proposed that common variants at this locus may also have detectable effects on the brain, extending beyond disorder into normal phenotypic variation. These neuroimaging genetics studies used groups of between 14 and 96 participants. The current study assessed effects of common FOXP2 variants on neuroanatomy using voxel-based morphometry and volumetric techniques in a sample of >1300 people from the general population. In a first targeted stage we analyzed single nucleotide polymorphisms (SNPs) claimed to have effects in prior smaller studies (rs2253478, rs12533005, rs2396753, rs6980093, rs7784315, rs17137124, rs10230558, rs7782412, rs1456031), beginning with regions proposed in the relevant papers, then assessing impact across the entire brain. In the second gene-wide stage, we tested all common FOXP2 variation, focusing on volumetry of those regions most strongly implicated from analyses of rare disruptive mutations. Despite using a sample that is more than ten times that used for prior studies of common FOXP2 variation, we found no evidence for effects of SNPs on variability in neuroanatomy in the general population. Thus, the impact of this gene on brain structure may be largely limited to extreme cases of rare disruptive alleles. Alternatively, effects of common variants at this gene exist but are too subtle to be detected with standard volumetric techniques

Abstract

Objective: To evaluate cognitive outcome in adult survivors of bacterial meningitis. Methods: Data from three prospective multicentre studies were pooled and reanalysed, involving 155 adults surviving bacterial meningitis (79 after pneumococcal and 76 after meningococcal meningitis) and 72 healthy controls. Results: Cognitive impairment was found in 32% of patients and this proportion was similar for survivors of pneumococcal and meningococcal meningitis. Survivors of pneumococcal meningitis performed worse on memory tasks (p<0.001) and tended to be cognitively slower than survivors of meningococcal meningitis (p = 0.08). We found a diffuse pattern of cognitive impairment in which cognitive speed played the most important role. Cognitive performance was not related to time since meningitis; however, there was a positive association between time since meningitis and self-reported physical impairment (p<0.01). The frequency of cognitive impairment and the numbers of abnormal test results for patients with and without adjunctive dexamethasone were similar. Conclusions: Adult survivors of bacterial meningitis are at risk of cognitive impairment, which consists mainly of cognitive slowness. The loss of cognitive speed is stable over time after bacterial meningitis; however, there is a significant improvement in subjective physical impairment in the years after bacterial meningitis. The use of dexamethasone was not associated with cognitive impairment.

Abstract

Objective: Attention deficit hyperactivity disorder (ADHD) is a highly heritable disorder. The NOS1 gene encoding nitric oxide synthase is a candidate gene for ADHD and has been previously linked with impulsivity. In the present study, the authors investigated the effect of a functional variable number of tandem repeats (VNTR) polymorphism in NOS1 (NOS1 exon 1f-VNTR) on the processing of rewards, one of the cognitive deficits in ADHD. Method: A sample of 136 participants, consisting of 87 adult ADHD patients and 49 healthy comparison subjects, completed a reward-related impulsivity task. A total of 104 participants also underwent functional magnetic resonance imaging during a reward anticipation task. The effect of the NOS1 exon 1f-VNTR genotype on reward-related impulsivity and reward-related ventral striatal activity was examined. Results: ADHD patients had higher impulsivity scores and lower ventral striatal activity than healthy comparison subjects. The association between the short allele and increased impulsivity was confirmed. However, independent of disease status, homozygous carriers of the short allele of NOS1, the ADHD risk genotype, demonstrated higher ventral striatal activity than carriers of the other NOS1 VNTR genotypes. Conclusions: The authors suggest that the NOS1 genotype influences impulsivity and its relation with ADHD is mediated through effects on this behavioral trait. Increased ventral striatal activity related to NOS1 may be compensatory for effects in other brain regions.

Abstract

There is increasing evidence that genetic risk variants for non-syndromic cleft lip/palate (nsCL/P) are also associated with normal-range variation in facial morphology. However, previous analyses are mostly limited to candidate SNPs and findings have not been consistently replicated. Here, we used polygenic risk scores (PRS) to test for genetic overlap between nsCL/P and seven biologically relevant facial phenotypes. Where evidence was found of genetic overlap, we used bidirectional Mendelian randomization (MR) to test the hypothesis that genetic liability to nsCL/P is causally related to implicated facial phenotypes. Across 5,804 individuals of European ancestry from two studies, we found strong evidence, using PRS, of genetic overlap between nsCL/P and philtrum width; a 1 S.D. increase in nsCL/P PRS was associated with a 0.10 mm decrease in philtrum width (95% C.I. 0.054, 0.146; P = 2x10-5). Follow-up MR analyses supported a causal relationship; genetic variants for nsCL/P homogeneously cause decreased philtrum width. In addition to the primary analysis, we also identified two novel risk loci for philtrum width at 5q22.2 and 7p15.2 in our Genome-wide Association Study (GWAS) of 6,136 individuals. Our results support a liability threshold model of inheritance for nsCL/P, related to abnormalities in development of the philtrum.

Abstract

We investigated reasoning about spatial relational similarity in three great ape species: chimpanzees, bonobos, and orangutans. Apes were presented with three spatial mapping tasks in which they were required to find a reward in an array of three cups, after observing a reward being hidden in a different array of three cups. To obtain a food reward, apes needed to choose the cup that was in the same relative position (i.e., on the left) as the baited cup in the other array. The three tasks differed in the constellation of the two arrays. In Experiment 1, the arrays were placed next to each other, forming a line. In Experiment 2, the positioning of the two arrays varied each trial, being placed either one behind the other in two rows, or next to each other, forming a line. Finally, in Experiment 3, the two arrays were always positioned one behind the other in two rows, but misaligned. Results suggested that apes compared the two arrays and recognized that they were similar in some way. However, we believe that instead of mapping the left–left, middle–middle, and right–right cups from each array, they mapped the cups that shared the most similar relations to nearby landmarks (table’s visual boundaries).

Abstract

Four eye-tracking experiments examined whether semantic and visual-shape representations are routinely retrieved from printed-word displays and used during language-mediated visual search. Participants listened to sentences containing target words which were similar semantically or in shape to concepts invoked by concurrently-displayed printed words. In Experiment 1 the displays contained semantic and shape competitors of the targets, and two unrelated words. There were significant shifts in eye gaze as targets were heard towards semantic but not shape competitors. In Experiments 2-4, semantic competitors were replaced with unrelated words, semantically richer sentences were presented to encourage visual imagery, or participants rated the shape similarity of the stimuli before doing the eye-tracking task. In all cases there were no immediate shifts in eye gaze to shape competitors, even though, in response to the Experiment 1 spoken materials, participants looked to these competitors when they were presented as pictures (Huettig & McQueen, 2007). There was a late shape-competitor bias (more than 2500 ms after target onset) in all experiments. These data show that shape information is not used in online search of printed-word displays (whereas it is used with picture displays). The nature of the visual environment appears to induce implicit biases towards particular modes of processing during language-mediated visual search.

Abstract

Introduction to the special issue 'The Effects of Literacy on Cognition and Brain Functioning'

Abstract

Experiments 1 and 2 examined the time-course of retrieval of phonological, visual-shape and semantic knowledge as Dutch participants listened to sentences and looked at displays of four pictures. Given a sentence with beker, `beaker', for example, the display contained phonological (a beaver, bever), shape (a bobbin, klos), and semantic (a fork, vork) competitors. When the display appeared at sentence onset, fixations to phonological competitors preceded fixations to shape and semantic competitors. When display onset was 200 ms before (e.g.) beker, fixations were directed to shape and then semantic competitors, but not phonological competitors. In Experiments 3 and 4, displays contained the printed names of the previously-pictured entities; only phonological competitors were fixated preferentially. These findings suggest that retrieval of phonological, shape and semantic knowledge in the spoken-word and picture-recognition systems is cascaded, and that visual attention shifts are co-determined by the time-course of retrieval of all three knowledge types and by the nature of the information in the visual environment.

Abstract

We describe the key features of the visual world paradigm and review the main research areas where it has been used. In our discussion we highlight that the paradigm provides information about the way language users integrate linguistic information with information derived from the visual environment. Therefore the paradigm is well suited to study one of the key issues of current cognitive psychology, namely the interplay between linguistic and visual information processing. However, conclusions about linguistic processing (e.g., about activation, competition, and timing of access of linguistic representations) in the absence of relevant visual information must be drawn with caution.

Abstract

Visual attention can be directed immediately, as a spoken word unfolds, towards conceptually related but nonassociated objects, even if they mismatch on other dimensions that would normally determine which objects in the scene were appropriate referents for the unfolding word (Huettig & Altmann, 2005). Here we demonstrate that the mapping between language and concurrent visual objects can also be mediated by visual-shape relations. On hearing "snake", participants directed overt attention immediately, within a visual display depicting four objects, to a picture of an electric cable, although participants had viewed the visual display with four objects for approximately 5 s before hearing the target word - sufficient time to recognize the objects for what they were. The time spent fixating the cable correlated significantly with ratings of the visual similarity between snakes in general and this particular cable. Importantly, with sentences contextually biased towards the concept snake, participants looked at the snake well before the onset of "snake", but they did not look at the visually similar cable until hearing "snake". Finally, we demonstrate that such activation can, under certain circumstances (e.g., during the processing of dominant meanings of homonyms), constrain the direction of visual attention even when it is clearly contextually inappropriate. We conclude that language-mediated attention can be guided by a visual match between spoken words and visual objects, but that such a match is based on lexical input and may not be modulated by contextual appropriateness.

Abstract

The cause of developmental dyslexia is still unknown despite decades of intense research. Many causal explanations have been proposed, based on the range of impairments displayed by affected individuals. Here we draw attention to the fact that many of these impairments are also shown by illiterate individuals who have not received any or very little reading instruction. We suggest that this fact may not be coincidental and that the performance differences of both illiterates and individuals with dyslexia compared to literate controls are, to a substantial extent, secondary consequences of either reduced or suboptimal reading experience or a combination of both. The search for the primary causes of reading impairments will make progress if the consequences of quantitative and qualitative differences in reading experience are better taken into account and not mistaken for the causes of reading disorders. We close by providing four recommendations for future research.

Abstract

At present, more than one-fifth of humanity is unable to read and write. We critically examine experimental evidence and theories of how (il)literacy affects the human mind. In our discussion we show that literacy has significant cognitive consequences that go beyond the processing of written words and sentences. Thus, cultural inventions such as reading shape general cognitive processing in non-trivial ways. We suggest that this has important implications for educational policy and guidance as well as research into cognitive processing and brain functioning.

Abstract

Three eye-tracking experiments investigated the influence of stored colour knowledge, perceived surface colour, and conceptual category of visual objects on language-mediated overt attention. Participants heard spoken target words whose concepts are associated with a diagnostic colour (e.g., "spinach"; spinach is typically green) while their eye movements were monitored to (a) objects associated with a diagnostic colour but presented in black and white (e.g., a black-and-white line drawing of a frog), (b) objects associated with a diagnostic colour but presented in an appropriate but atypical colour (e.g., a colour photograph of a yellow frog), and (c) objects not associated with a diagnostic colour but presented in the diagnostic colour of the target concept (e.g., a green blouse; blouses are not typically green). We observed that colour-mediated shifts in overt attention are primarily due to the perceived surface attributes of the visual objects rather than stored knowledge about the typical colour of the object. In addition our data reveal that conceptual category information is the primary determinant of overt attention if both conceptual category and surface colour competitors are copresent in the visual environment.

Abstract

In the visual world paradigm as used in psycholinguistics, eye gaze (i.e. visual orienting) is measured in order to draw conclusions about linguistic processing. However, current theories are underspecified with respect to how visual attention is guided on the basis of linguistic representations. In the visual search paradigm as used within the area of visual attention research, investigators have become more and more interested in how visual orienting is affected by higher order representations, such as those involved in memory and language. Within this area more specific models of orienting on the basis of visual information exist, but they need to be extended with mechanisms that allow for language-mediated orienting. In the present paper we review the evidence from these two different – but highly related – research areas. We arrive at a model in which working memory serves as the nexus in which long-term visual as well as linguistic representations (i.e. types) are bound to specific locations (i.e. tokens or indices). The model predicts that the interaction between language and visual attention is subject to a number of conditions, such as the presence of the guiding representation in working memory, capacity limitations, and cognitive control mechanisms.

Abstract

The influence of formal literacy on spoken language-mediated visual orienting was investigated by using a simple look and listen task (cf. Huettig & Altmann, 2005) which resembles every day behavior. In Experiment 1, high and low literates listened to spoken sentences containing a target word (e.g., 'magar', crocodile) while at the same time looking at a visual display of four objects (a phonological competitor of the target word, e.g., 'matar', peas; a semantic competitor, e.g., 'kachuwa', turtle, and two unrelated distractors). In Experiment 2 the semantic competitor was replaced with another unrelated distractor. Both groups of participants shifted their eye gaze to the semantic competitors (Experiment 1). In both experiments high literates shifted their eye gaze towards phonological competitors as soon as phonological information became available and moved their eyes away as soon as the acoustic information mismatched. Low literates in contrast only used phonological information when semantic matches between spoken word and visual referent were impossible (Experiment 2) but in contrast to high literates these phonologically-mediated shifts in eye gaze were not closely time-locked to the speech input. We conclude that in high literates language-mediated shifts in overt attention are co-determined by the type of information in the visual environment, the timing of cascaded processing in the word- and object-recognition systems, and the temporal unfolding of the spoken language. Our findings indicate that low literates exhibit a similar cognitive behavior but instead of participating in a tug-of-war among multiple types of cognitive representations, word-object mapping is achieved primarily at the semantic level. If forced, for instance by a situation in which semantic matches are not present (Experiment 2), low literates may on occasion have to rely on phonological information but do so in a much less proficient manner than their highly literate counterparts.

Abstract

People from Western societies generally find it difficult to name odors. In trying to explain this, the olfactory literature has proposed several theories that focus heavily on properties of the odor itself but rarely discuss properties of the label used to describe it. However, recent studies show speakers of languages with dedicated smell lexicons can name odors with relative ease. Has the role of the lexicon been overlooked in the olfactory literature? Word production studies show properties of the label, such as word frequency and semantic context, influence naming; but this field of research focuses heavily on the visual domain. The current study combines methods from both fields to investigate word production for olfaction in two experiments. In the first experiment, participants named odors whose veridical labels were either high-frequency or low-frequency words in Dutch, and we found that odors with high-frequency labels were named correctly more often. In the second experiment, edibility was used for manipulating semantic context in search of a semantic interference effect, presenting the odors in blocks of edible and inedible odor source objects to half of the participants. While no evidence was found for a semantic interference effect, an effect of word frequency was again present. Our results demonstrate psycholinguistic variables—such as word frequency—are relevant for olfactory naming, and may, in part, explain why it is difficult to name odors in certain languages. Olfactory researchers cannot afford to ignore properties of an odor’s label.

Abstract

This paper reports on ongoing research on the role of various kinds of potential substrate languages in the development of the semantic structures of Ndyuka (Eastern Suriname Creole). A set of 100 senses of noun, verb, and other lexemes in Ndyuka were compared with senses of corresponding lexemes in three kinds of languages of the former Slave Coast and Gold Coast areas, and immediately adjoining hinterland: (a) Gbe languages; (b) other Kwa languages, specifically Akan and Ga; (c) non-Kwa Niger-Congo languages. The results of this process provide some evidence for the importance of the Gbe languages in the formation of the Suriname creoles, but also for the importance of other languages, and for the areal nature of some of the collocations studied, rendering specific identification of a single substrate source impossible and inappropriate. These results not only provide information about the role of Gbe and other languages in the formation of Ndyuka, but also give evidence for effects of substrate languages spoken by late arrivals some time after the "founders" of a given creole-speaking society. The conclusions are extrapolated beyond Suriname to creole genesis generally.

Abstract

This study investigates the implicit sequence learning abilities of dyslexic children using an artificial grammar learning task with an extended exposure period. Twenty children with developmental dyslexia participated in the study and were matched with two control groups—one matched for age and other for reading skills. During 3 days, all participants performed an acquisition task, where they were exposed to colored geometrical forms sequences with an underlying grammatical structure. On the last day, after the acquisition task, participants were tested in a grammaticality classification task. Implicit sequence learning was present in dyslexic children, as well as in both control groups, and no differences between groups were observed. These results suggest that implicit learning deficits per se cannot explain the characteristic reading difficulties of the dyslexics.

Abstract

In the first decade of neurocognitive word production research the predominant approach was brain mapping, i.e., investigating the regional cerebral brain activation patterns correlated with word production tasks, such as picture naming and word generation. Indefrey and Levelt (2004) conducted a comprehensive meta-analysis of word production studies that used this approach and combined the resulting spatial information on neural correlates of component processes of word production with information on the time course of word production provided by behavioral and electromagnetic studies. In recent years, neurocognitive word production research has seen a major change toward a hypothesis-testing approach. This approach is characterized by the design of experimental variables modulating single component processes of word production and testing for predicted effects on spatial or temporal neurocognitive signatures of these components. This change was accompanied by the development of a broader spectrum of measurement and analysis techniques. The article reviews the findings of recent studies using the new approach. The time course assumptions of Indefrey and Levelt (2004) have largely been confirmed requiring only minor adaptations. Adaptations of the brain structure/function relationships proposed by Indefrey and Leven (2004) include the precise role of subregions of the left inferior frontal gyrus as well as a probable, yet to date unclear role of the inferior parietal cortex in word production.

Abstract

Hickok's enterprise to unify psycholinguistic and motor control models is highly stimulating. Nonetheless, there are problems of the model with respect to the time course of neural activation in word production, the flexibility for continuous speech, and the need for non-motor feedback.

Abstract

Deletions and reciprocal duplications of the chromosome 16p13.1 region have recently been reported in several cases of autism and mental retardation (MR). As genomic copy number variants found in these two disorders may also associate with schizophrenia, we examined 4345 schizophrenia patients and 35 079 controls from 8 European populations for duplications and deletions at the 16p13.1 locus, using microarray data. We found a threefold excess of duplications and deletions in schizophrenia cases compared with controls, with duplications present in 0.30% of cases versus 0.09% of controls (P=0.007) and deletions in 0.12 % of cases and 0.04% of controls (P>0.05). The region can be divided into three intervals defined by flanking low copy repeats. Duplications spanning intervals I and II showed the most significant (P=0.00010) association with schizophrenia. The age of onset in duplication and deletion carriers among cases ranged from 12 to 35 years, and the majority were males with a family history of psychiatric disorders. In a single Icelandic family, a duplication spanning intervals I and II was present in two cases of schizophrenia, and individual cases of alcoholism, attention deficit hyperactivity disorder and dyslexia. Candidate genes in the region include NTAN1 and NDE1. We conclude that duplications and perhaps also deletions of chromosome 16p13.1, previously reported to be associated with autism and MR, also confer risk of schizophrenia.

Abstract

This study uses a sentence completion task with Swedish and Chinese L2 English speakers to investigate how L1 morphosyntax and L2 proficiency influence L2 English subject-verb agreement production. Chinese has limited nominal and verbal number morphology, while Swedish has robust noun phrase (NP) morphology but does not number-mark verbs. Results showed that like L1 English speakers, both L2 groups used grammatical and conceptual number to produce subject-verb agreement. However, only L1 Chinese speakers—and less-proficient speakers in both L2 groups—were similarly influenced by grammatical and conceptual number when producing the subject NP. These findings demonstrate how L2 proficiency, perhaps combined with cross-linguistic differences, influence L2 production and underscore that encoding of noun and verb number are not independent.

Abstract

Fiction is vital to our being. Many people enjoy engaging with fiction every day. Here we focus on literary reading as 1 instance of fiction consumption from a cognitive neuroscience perspective. The brain processes which play a role in the mental construction of fiction worlds and the related engagement with fictional characters, remain largely unknown. The authors discuss the neurocognitive poetics model (Jacobs, 2015a) of literary reading specifying the likely neuronal correlates of several key processes in literary reading, namely inference and situation model building, immersion, mental simulation and imagery, figurative language and style, and the issue of distinguishing fact from fiction. An overview of recent work on these key processes is followed by a discussion of methodological challenges in studying the brain bases of fiction processing

Abstract

This paper introduces Parselmouth, an open-source Python library that facilitates access to core functionality of Praat in Python, in an efficient and programmer-friendly way. We introduce and motivate the package, and present simple usage examples. Specifically, we focus on applications in data visualisation, file manipulation, audio manipulation, statistical analysis, and integration of Parselmouth into a Python-based experimental design for automated, in-the-loop manipulation of acoustic data. Parselmouth is available at https://github.com/YannickJadoul/Parselmouth.

Abstract

This study investigates how listeners cope with gradient forms of deletion of word-final /t/ when recognising words in a phonological context that makes /t/-deletion viable. A corpus study confirmed a high incidence of /t/-deletion in an /st#b/ context in Dutch. A discrimination study showed that differences between released /t/, unreleased /t/ and fully deleted /t/ in this specific /st#b/ context were salient. Two on-line experiments were carried out to investigate whether lexical activation might be affected by this form variation. Even though unreleased and released variants were processed equally fast by listeners, a detailed analysis of the unreleased condition provided evidence for gradient activation. Activating a target ending in /t/ is slowest for the most reduced variant because phonological context has to be taken into account. Importantly, activation for a target with /t/ in the absence of cues for /t/ is reduced if there is a surface-matching lexical competitor.

Abstract

Many older listeners report difficulties in understanding speech in noisy situations. Working memory and other cognitive skills may modulate, however, older listeners’ ability to use context information to alleviate the effects of noise on spoken-word recognition. In the present study, we investigated whether working memory predicts older adults’ ability to immediately use context information in the recognition of words embedded in sentences, presented in different listening conditions. In a phoneme-monitoring task, older adults were asked to detect as fast and as accurately as possible target phonemes in sentences spoken by a target speaker. Target speech was presented without noise, with fluctuating speech-shaped noise, or with competing speech from a single distractor speaker. The gradient measure of contextual probability (derived from a separate offline rating study) mainly affected the speed of recognition, with only a marginal effect on detection accuracy. Contextual facilitation was modulated by older listeners’ working memory and age across listening conditions. Working memory and age, as well as hearing loss, were also the most consistent predictors of overall listening performance. Older listeners’ immediate benefit from context in spoken-word recognition thus relates to their ability to keep and update a semantic representation of the sentence content in working memory.

Abstract

People vary at most levels, from the molecular to the cognitive, and the shape of the hard palate (the bony roof of the mouth) is no exception. The patterns of variation in the hard palate are important for the forensic sciences and (palaeo)anthropology, and might also play a role in speech production, both in pathological cases and normal variation. Here we describe a method based on Bézier curves, whose main aim is to generate possible shapes of the hard palate in humans for use in computer simulations of speech production and language evolution. Moreover, our method can also capture existing patterns of variation using few and easy-to-interpret parameters, and fits actual data obtained from MRI traces very well with as little as two or three free parameters. When compared to the widely-used Principal Component Analysis (PCA), our method fits actual data slightly worse for the same number of degrees of freedom. However, it is much better at generating new shapes without requiring a calibration sample, its parameters have clearer interpretations, and their ranges are grounded in geometrical considerations. © 2018 Janssen et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Abstract

Successful navigation is facilitated by the presence of landmarks. Previous functional magnetic resonance imaging (fMRI) evidence indicated that the human parahippocampal gyrus automatically distinguishes between landmarks placed at navigationally relevant (decision points) and irrelevant locations (nondecision points). This storage of navigational relevance can provide a neural mechanism underlying successful navigation. However, an efficient wayfinding mechanism requires that important spatial information is learned quickly and maintained over time. The present study investigates whether the representation of navigational relevance is modulated by time and practice. Participants learned 2 film sequences through virtual mazes containing objects at decision and at nondecision points. One maze was shown one time, and the other maze was shown 3 times. Twenty-four hours after study, event-related fMRI data were acquired during recognition of the objects. The results showed that activity in the parahippocampal gyrus was increased for objects previously placed at decision points as compared with objects placed at nondecision points. The decision point effect was not modulated by the number of exposures to the mazes and independent of explicit memory functions. These findings suggest a persistent representation of navigationally relevant information, which is stable after only one exposure to an environment. These rapidly induced and long-lasting changes in object representation provide a basis for successful wayfinding.

Abstract

The human brain distinguishes between landmarks placed at navigationally relevant and irrelevant locations. However, to provide a successful wayfinding mechanism not only landmarks but also the routes between them need to be stored. We examined the neural representation of a memory for route direction and a memory for relevant landmarks. Healthy human adults viewed objects along a route through a virtual maze. Event-related functional magnetic resonance imaging (fMRI) data were acquired during a subsequent subliminal priming recognition task. Prime-objects either preceded or succeeded a target-object on a preciously learned route. Our results provide evidence that the parahippocampal gyri distinguish between relevant and irrelevant landmarks whereas the inferior parietal gyrus, the anterior cingulate gyrus as well as the right caudate nucleus are involved in the coding of route direction. These data show that separated memory systems store different spatial information. A memory for navigationally relevant object information and a memory for route direction exist.

Abstract

Visual cues to the individual segments of speech and to sentence prosody guide speech recognition. The present study tested whether visual suprasegmental cues to the stress patterns of words can also constrain recognition. Dutch listeners use acoustic suprasegmental cues to lexical stress (changes in duration, amplitude, and pitch) in spoken-word recognition. We asked here whether they can also use visual suprasegmental cues. In two categorization experiments, Dutch participants saw a speaker say fragments of word pairs that were segmentally identical but differed in their stress realization (e.g., 'ca-vi from cavia "guinea pig" vs. 'ka-vi from kaviaar "caviar"). Participants were able to distinguish between these pairs from seeing a speaker alone. Only the presence of primary stress in the fragment, not its absence, was informative. Participants were able to distinguish visually primary from secondary stress on first syllables, but only when the fragment-bearing target word carried phrase-level emphasis. Furthermore, participants distinguished fragments with primary stress on their second syllable from those with secondary stress on their first syllable (e.g., pro-'jec from projector "projector" vs. 'pro-jec from projectiel "projectile"), independently of phrase-level emphasis. Seeing a speaker thus contributes to spoken-word recognition by providing suprasegmental information about the presence of primary lexical stress.

Abstract

Listeners use lexical knowledge to adjust to speakers’ idiosyncratic pronunciations. Dutch listeners learn to interpret an ambiguous sound between /s/ and /f/ as /f/ if they hear it word-finally in Dutch words normally ending in /f/, but as /s/ if they hear it in normally /s/-final words. Here, we examined two positional effects in lexically guided retuning. In Experiment 1, ambiguous sounds during exposure always appeared in word-initial position (replacing the first sounds of /f/- or /s/-initial words). No retuning was found. In Experiment 2, the same ambiguous sounds always appeared word-finally during exposure. Here, retuning was found. Lexically guided perceptual learning thus appears to emerge reliably only when lexical knowledge is available as the to-be-tuned segment is initially being processed. Under these conditions, however, lexically guided retuning was position independent: It generalized across syllabic positions. Lexical retuning can thus benefit future recognition of particular sounds wherever they appear in words.

Abstract

We investigate differences of cerebral activation in 12 right-handed and left-handed participants, respectively, using a sentence-processing task. Functional MRI shows activation of left-frontal and inferior-parietal speech areas (BA 44, BA9, BA 40) in both groups, but a stronger bilateral activation in left-handers. Direct group comparison reveals a stronger activation in right-frontal cortex (BA 47, BA 6) and left cerebellum in left-handers. Laterality indices for the inferior-frontal cortex are less asymmetric in left-handers and are not related to the degree of handedness. Thus, our results show that sentence-processing induced enhanced activation involving a bilateral network in left-handed participants.

Abstract

Purpose: Factors affecting the efficacy of therapeutic monoclonal antibodies (mAb) directed to the epidermal growth factor receptor (EGFR) remain relatively unknown, especially in glioma. Experimental Design: We examined the efficacy of two EGFR-specific mAbs (mAbs 806 and 528) against U87MG-derived glioma xenografts expressing EGFR variants. Using this approach allowed us to change the form of the EGFR while keeping the genetic background constant. These variants included the de2-7 EGFR (or EGFRvIII), a constitutively active mutation of the EGFR expressed in glioma. Results: The efficacy of the mAbs correlated with EGFR number; however, the most important factor was receptor activation. Whereas U87MG xenografts expressing the de2-7 EGFR responded to therapy, those exhibiting a dead kinase de2-7 EGFR were refractory. A modified de2-7 EGFR that was kinase active but autophosphorylation deficient also responded, suggesting that these mAbs function in de2-7 EGFR–expressing xenografts by blocking transphosphorylation. Because de2-7 EGFR–expressing U87MG xenografts coexpress the wild-type EGFR, efficacy of the mAbs was also tested against NR6 xenografts that expressed the de2-7 EGFR in isolation. Whereas mAb 806 displayed antitumor activity against NR6 xenografts, mAb 528 therapy was ineffective, suggesting that mAb 528 mediates its antitumor activity by disrupting interactions between the de2-7 and wild-type EGFR. Finally, genetic disruption of Src in U87MG xenografts expressing the de2-7 EGFR dramatically enhanced mAb 806 efficacy. Conclusions: The effective use of EGFR-specific antibodies in glioma will depend on identifying tumors with activated EGFR. The combination of EGFR and Src inhibitors may be an effective strategy for the treatment of glioma.

Abstract

Eye movements made by listeners during language-mediated visual search reveal a strong link between
visual processing and conceptual processing. For example, upon hearing the word for a missing referent
with a characteristic colour (e.g., “strawberry”), listeners tend to fixate a colour-matched distractor (e.g.,
a red plane) more than a colour-mismatched distractor (e.g., a yellow plane). We ask whether these
shifts in visual attention are mediated by the retrieval of lexically stored colour labels. Do children
who do not yet possess verbal labels for the colour attribute that spoken and viewed objects have in
common exhibit language-mediated eye movements like those made by older children and adults?
That is, do toddlers look at a red plane when hearing “strawberry”? We observed that 24-montholds
lacking colour term knowledge nonetheless recognized the perceptual–conceptual commonality
between named and seen objects. This indicates that language-mediated visual search need not
depend on stored labels for concepts.

Abstract

Talkers are recognized more accurately if they are speaking the listeners’ native language rather than an unfamiliar language. This “language familiarity effect” has been shown not to depend upon comprehension and must instead involve language sound patterns. We further examine the level of sound-pattern processing involved, by comparing talker recognition in foreign languages versus two varieties of English, by (a) English speakers of one variety, (b) English speakers of the other variety, and (c) non-native listeners (more familiar with one of the varieties). All listener groups performed better with native than foreign speech, but no effect of language variety appeared: Native listeners discriminated talkers equally well in each, with the native variety never outdoing the other variety, and non-native listeners discriminated talkers equally poorly in each, irrespective of the variety's familiarity. The results suggest that this talker recognition effect rests not on simple familiarity, but on an abstract level of phonological processing

Abstract

The nature of children’s early lexical processing was investigated by asking what information 36-month-olds access and use when instructed to find a known but absent referent. Children readily retrieved stored knowledge about characteristic color, i.e. when asked to find an object with a typical color (e.g. strawberry), children tended to fixate more upon an object that had the same (e.g. red plane) as opposed to a different (e.g. yellow plane) color. They did so regardless of the fact that they have had plenty of time to recognize the pictures for what they are, i.e. planes not strawberries. These data represent the first demonstration that language-mediated shifts of overt attention in young children can be driven by individual stored visual attributes of known words that mismatch on most other dimensions. The finding suggests that lexical processing and overt attention are strongly linked from an early age.

Abstract

Studies exploring the role of neural oscillations in cognition have revealed sustained increases in alpha-band (∼8–14 Hz) power during the delay period of delayed-recognition short-term memory tasks. These increases have been proposed to reflect the inhibition, for example, of cortical areas representing task-irrelevant information, or of potentially interfering representations from previous trials. Another possibility, however, is that elevated delay-period alpha-band power (DPABP) reflects the selection and maintenance of information, rather than, or in addition to, the inhibition of task-irrelevant information. In the present study, we explored these possibilities using a delayed-recognition paradigm in which the presence and task relevance of shape information was systematically manipulated across trial blocks and electroencephalographic was used to measure alpha-band power. In the first trial block, participants remembered locations marked by identical black circles. The second block featured the same instructions, but locations were marked by unique shapes. The third block featured the same stimulus presentation as the second, but with pretrial instructions indicating, on a trial-by-trial basis, whether memory for shape or location was required, the other dimension being irrelevant. In the final block, participants remembered the unique pairing of shape and location for each stimulus. Results revealed minimal DPABP in each of the location-memory conditions, whether locations were marked with identical circles or with unique task-irrelevant shapes. In contrast, alpha-band power increases were observed in both the shape-memory condition, in which location was task irrelevant, and in the critical final condition, in which both shape and location were task relevant. These results provide support for the proposal that alpha-band oscillations reflect the retention of shape information and/or shape–location associations in short-term memory.

Abstract

A visual fixation study tested whether seven-month-olds can discriminate between different talkers. The infants were first habituated to talkers producing sentences in either a familiar or unfamiliar language, then heard test sentences from previously unheard speakers, either in the language used for habituation, or in another language. When the language at test mismatched that in habituation, infants always noticed the change. When language remained constant and only talker altered, however, infants detected the change only if the language was the native tongue. Adult listeners with a different native tongue than the infants did not reproduce the discriminability patterns shown by the infants, and infants detected neither voice nor language changes in reversed speech; both these results argue against explanation of the native-language voice discrimination in terms of acoustic properties of the stimuli. The ability to identify talkers is, like many other perceptual abilities, strongly influenced by early life experience.

Abstract

Background: Autism spectrum disorders (ASD) are characterised by social and communication difficulties in day-to-day life, including problems in recognising emotions. However, experimental investigations of emotion recognition ability in ASD have been equivocal; hampered by small sample sizes, narrow IQ range and over-focus on the visual modality. Methods: We tested 99 adolescents (mean age 15;6 years, mean IQ 85) with an ASD and 57 adolescents without an ASD (mean age 15;6 years, mean IQ 88) on a facial emotion recognition task and two vocal emotion recognition tasks (one verbal; one non-verbal). Recognition of happiness, sadness, fear, anger, surprise and disgust were tested. Using structural equation modelling, we conceptualised emotion recognition ability as a multimodal construct, measured by the three tasks. We examined how the mean levels of recognition of the six emotions differed by group (ASD vs. non-ASD) and IQ (>= 80 vs. < 80). Results: There was no significant difference between groups for the majority of emotions and analysis of error patterns suggested that the ASD group were vulnerable to the same pattern of confusions between emotions as the non-ASD group. However, recognition ability was significantly impaired in the ASD group for surprise. IQ had a strong and significant effect on performance for the recognition of all six emotions, with higher IQ adolescents outperforming lower IQ adolescents. Conclusions: The findings do not suggest a fundamental difficulty with the recognition of basic emotions in adolescents with ASD.

Abstract

Social structure in human societies is underpinned by the variable expression of ideas about relatedness between different types of kin. We express these ideas through language in our kin terminology: to delineate who is kin and who is not, and to attach meanings to the types of kin labels associated with different individuals. Cross-culturally, there is a regular and restricted range of patterned variation in kin terminologies, and to date, our understanding of this diversity has been hampered by inadequate techniques for dealing with the hierarchical relatedness of languages (Galton’s Problem). Here I use maximum-likelihood and Bayesian phylogenetic comparative methods to begin to tease apart the processes underlying the evolution of kin terminologies in the Austronesian language family, focusing on terms for siblings. I infer (1) the probable ancestral states and (2) evolutionary models of change for the semantic distinctions of relative age (older/younger sibling) and relative sex (same sex/opposite-sex). Analyses show that early Austronesian languages contained the relative-age, but not the relative-sex distinction; the latter was reconstructed firmly only for the ancestor of Eastern Malayo-Polynesian languages. Both distinctions were best characterized by evolutionary models where the gains and losses of the semantic distinctions were equally likely. A multi-state model of change examined how the relative-sex distinction could be elaborated and found that some transitions in kin terms were not possible: jumps from absence to heavily elaborated were very unlikely, as was piece-wise dismantling of elaborate distinctions. Cultural ideas about what types of kin distinctions are important can be embedded in the semantics of language; using a phylogenetic evolutionary framework we can understand how those distinctions in meaning change through time.

Abstract

Recent behavioral and electrophysiological evidence has highlighted the long-term importance for language skills of an early ability to recognize words in continuous speech. We here present further tests of this long-term link in the form of follow-up studies conducted with two (separate) groups of infants who had earlier participated in speech segmentation tasks. Each study extends prior follow-up tests: Study 1 by using a novel follow-up measure that taps into online processing, Study 2 by assessing language performance relationships over a longer time span than previously tested. Results of Study 1 show that brain correlates of speech segmentation ability at 10 months are positively related to 16-month-olds’ target fixations in a looking-while-listening task. Results of Study 2 show that infant speech segmentation ability no longer directly predicts language profiles at the age of five. However, a meta-analysis across our results and those of similar studies (Study 3) reveals that age at follow-up does not moderate effect size. Together, the results suggest that infants’ ability to recognize words in speech certainly benefits early vocabulary development; further observed relationships of later language skills to early word recognition may be consequent upon this vocabulary size effect.

Abstract

Most words that infants hear occur within fluent speech. To compile a vocabulary, infants therefore need to segment words from speech contexts. This study is the first to investigate whether infants (here: 10-month-olds) can recognize words when both initial exposure and test presentation are in continuous speech. Electrophysiological evidence attests that this indeed occurs: An increased extended negativity (word recognition effect) appears for familiarized target words relative to control words. This response proved constant at the individual level: Only infants who showed this negativity at test had shown such a response, within six repetitions after first occurrence, during familiarization.

Abstract

The mutual exclusivity (ME) assumption is proposed to facilitate early word learning by guiding infants to map novel words to novel referents. This study assessed the emergence and use of ME to both disambiguate and retain the meanings of novel words across development in 18‐month‐old monolingual and bilingual children (Experiment 1; N = 58), and in a sub‐group of these children again at 24 months of age (Experiment 2: N = 32). Both monolinguals and bilinguals employed ME to select the referent of a novel label to a similar extent at 18 and 24 months. At 18 months, there were also no differences in novel word retention between the two language‐background groups. However, at 24 months, only monolinguals showed the ability to retain these label–object mappings. These findings indicate that the development of the ME assumption as a reliable word‐learning strategy is shaped by children's individual language exposure and experience with language use.

Abstract

In this article, we review research on child–robot interaction (CRI) to discuss how social robots can be used to scaffold language learning in young children. First we provide reasons why robots can be useful for teaching first and second languages to children. Then we review studies on CRI that used robots to help children learn vocabulary and produce language. The studies vary in first and second languages and demographics of the learners (typically developing children and children with hearing and communication impairments). We conclude that, although social robots are useful for teaching language to children, evidence suggests that robots are not as effective as human teachers. However, this conclusion is not definitive because robots that tutor students in language have not been evaluated rigorously and technology is advancing rapidly. We suggest that CRI offers an opportunity for research and list possible directions for that work.

Abstract

The relocation of animals can induce stress when animals are placed in novel environmental conditions. The movement of captive animals among facilities is common, especially for non-human primates used in research. The stress response begins with the activation of the hypothalamic-pituitary-adrenal (HPA) axis which results in the release of glucocorticoid hormones (GC), which at chronic levels could lead to deleterious physiological effects. There is a substantial body of data concerning GC levels affecting reproduction, and rank and aggression in primates. However, the effect of transport has received much less attention. Fecal samples from eight (four male and four female) captive-bred cotton-top tamarins (Saguinus oedipus) were collected at four different time points (two pre-transport and two post-transport). The fecal samples were analyzed using an immunoassay to determine GC levels. A repeated measures analysis of variance (ANOVA) demonstrated that GC levels differed among transport times (p = 0.009), but not between sexes (p = 0.963). Five of the eight tamarins exhibited an increase in GC levels after transport. Seven of the eight tamarins exhibited a decrease in GC levels from three to six days post-transport to three weeks post-transport. Most values returned to pre-transport levels after three weeks. The results indicate that these tamarins experienced elevated GC levels following transport, but these increases were of short duration. This outcome would suggest that the negative effects of elevated GC levels were also of short duration.

Abstract

Theorists of language have argued that co-­speech hand gestures are an
intentional part of social communication. The present study provides evidence for these
claims by showing that speakers adjust their gesture use according to their perceived relevance to the audience. Participants were asked to read about items that were and were not useful in a wilderness survival scenario, under the pretense that they would then
explain (on camera) what they learned to one of two different audiences. For one audience (a group of college students in a dormitory orientation activity), the stakes of successful
communication were low;; for the other audience (a group of students preparing for a
rugged camping trip in the mountains), the stakes were high. In their explanations to the camera, participants in the high stakes condition produced three times as many
representational gestures, and spent three times as much time gesturing, than participants in the low stakes condition. This study extends previous research by showing that the anticipated consequences of one’s communication—namely, the degree to which information may be useful to an intended recipient—influences speakers’ use of gesture.

Abstract

One of the major challenges in acquiring a language is being able to use morphology as an adult would, and thus, a considerable amount of acquisition research has focused on morphological production and comprehension. Most of this research, however, has focused on the acquisition of morphology in isolating languages, or languages (such as English) with limited inflectional morphology. The nature of the learning task is different, and potentially more challenging, when the child is learning a polysynthetic language – a language in which words are highly morphologically complex, expressing in a single word what in English takes a multi-word clause. To date, there has been no cross-linguistic survey of how children approach this puzzle and learn polysynthetic languages. This paper aims to provide such a survey, including a discussion of some of the general findings in the literature regarding the acquisition of polysynthetic systems

Abstract

We hypothesized that bone resorption acts to increase bone strength through stimulation of periosteal expansion. Hence, we examined whether bone resorption, as reflected by serum β-C-telopeptides of type I collagen (CTX), is positively associated with periosteal circumference (PC), in contrast to inverse associations with parameters related to bone remodeling such as cortical bone mineral density (BMDC ). CTX and mid-tibial peripheral quantitative computed tomography (pQCT) scans were available in 1130 adolescents (mean age 15.5 years) from the Avon Longitudinal Study of Parents and Children (ALSPAC). Analyses were adjusted for age, gender, time of sampling, tanner stage, lean mass, fat mass, and height. CTX was positively related to PC (β=0.19 [0.13, 0.24]) (coefficient=SD change per SD increase in CTX, 95% confidence interval)] but inversely associated with BMDC (β=-0.46 [-0.52,-0.40]) and cortical thickness [β=-0.11 (-0.18, -0.03)]. CTX was positively related to bone strength as reflected by the strength-strain index (SSI) (β=0.09 [0.03, 0.14]). To examine the causal nature of this relationship, we then analyzed whether single-nucleotide polymorphisms (SNPs) within key osteoclast regulatory genes, known to reduce areal/cortical BMD, conversely increase PC. Fifteen such genetic variants within or proximal to genes encoding receptor activator of NF-κB (RANK), RANK ligand (RANKL), and osteoprotegerin (OPG) were identified by literature search. Six of the 15 alleles that were inversely related to BMD were positively related to CTX (p<}0.05 cut-off) (n=2379). Subsequently, we performed a meta-analysis of associations between these SNPs and PC in ALSPAC (n=3382), Gothenburg Osteoporosis and Obesity Determinants (GOOD) (n=938), and the Young Finns Study (YFS) (n=1558). Five of the 15 alleles that were inversely related to BMD were positively related to PC (p{<0.05 cut-off). We conclude that despite having lower BMD, individuals with a genetic predisposition to higher bone resorption have greater bone size, suggesting that higher bone resorption is permissive for greater periosteal expansion.

Abstract

Heritability of bone mineral density (BMD) varies across skeletal sites, reflecting different relative contributions of genetic and environmental influences. To quantify the degree to which common genetic variants tag and environmental factors influence BMD, at different sites, we estimated the genetic (rg) and residual (re) correlations between BMD measured at the upper limbs (UL-BMD), lower limbs (LL-BMD) and skull (SK-BMD), using total-body DXA scans of ∼ 4,890 participants recruited by the Avon Longitudinal Study of Parents and their Children (ALSPAC). Point estimates of rg indicated that appendicular sites have a greater proportion of shared genetic architecture (LL-/UL-BMD rg = 0.78) between them, than with the skull (UL-/SK-BMD rg = 0.58 and LL-/SK-BMD rg = 0.43). Likewise, the residual correlation between BMD at appendicular sites (r(e) = 0.55) was higher than the residual correlation between SK-BMD and BMD at appendicular sites (r(e) = 0.20-0.24). To explore the basis for the observed differences in rg and re, genome-wide association meta-analyses were performed (n ∼ 9,395), combining data from ALSPAC and the Generation R Study identifying 15 independent signals from 13 loci associated at genome-wide significant level across different skeletal regions. Results suggested that previously identified BMD-associated variants may exert site-specific effects (i.e. differ in the strength of their association and magnitude of effect across different skeletal sites). In particular, variants at CPED1 exerted a larger influence on SK-BMD and UL-BMD when compared to LL-BMD (P = 2.01 × 10(-37)), whilst variants at WNT16 influenced UL-BMD to a greater degree when compared to SK- and LL-BMD (P = 2.31 × 10(-14)). In addition, we report a novel association between RIN3 (previously associated with Paget's disease) and LL-BMD (rs754388: β = 0.13, SE = 0.02, P = 1.4 × 10(-10)). Our results suggest that BMD at different skeletal sites is under a mixture of shared and specific genetic and environmental influences. Allowing for these differences by performing genome-wide association at different skeletal sites may help uncover new genetic influences on BMD.