Publications

Abstract

Patterns formed by reaction-diffusion mechanisms are crucial for the development or sustenance of most organisms in nature. Patterns include dynamic waves, but are more often found as static distributions, such as animal skin patterns. Yet, a simplistic biological model system to reproduce and quantitatively investigate static reaction-diffusion patterns has been missing so far. Here, we demonstrate that the Escherichia coli MM system, known for its oscillatory behavior between the cell poles, is under certain conditions capable of transitioning to quasi-stationary protein distributions on membranes closely resembling Turing patterns. We systematically titrated both proteins, MinD and MinE, and found that removing all purification tags and linkers from the N-terminus of MinE was critical for static patterns to occur. At small bulk heights, dynamic patterns dominate, such as in rod-shaped microcompartments. We see implications of this work for studying pattern formation in general, but also for creating artificial gradients as downstream cues in synthetic biology applications.

Abstract

Children need to learn the demands of their native language in the early vocabulary development phase. In this dynamic process, parental multimodal input may shape neurodevelopmental trajectories while also being tailored by child-related factors. Moving beyond typically characterized group profiles, in this article, we synthesize growing evidence on the effects of parental multimodal input (amount, quality, or absence), domain-specific input (space and math), and language-specific input (causal verbs and sound symbols) on preterm, full-term, and deaf children's early vocabulary development, focusing primarily on research with children learning Turkish and Turkish Sign Language. We advocate for a theoretical perspective, integrating neonatal characteristics and parental input, and acknowledging the unique constraints of languages.

Abstract

To test whether the language we speak influences our behavior even when we are not speaking, we asked speakers of four languages differing in their predominant word orders (English, Turkish, Spanish, and Chinese) to perform two nonverbal tasks: a communicative task (describing an event by using gesture without speech) and a noncommunicative task (reconstructing an event with pictures). We found that the word orders speakers used in their everyday speech did not influence their nonverbal behavior. Surprisingly, speakers of all four languages used the same order and on both nonverbal tasks. This order, actor–patient–act, is analogous to the subject–object–verb pattern found in many languages of the world and, importantly, in newly developing gestural languages. The findings provide evidence for a natural order that we impose on events when describing and reconstructing them nonverbally and exploit when constructing language anew.

Abstract

Interactive models of language production predict that it should be possible to observe long-distance interactions; effects that arise at one level of processing influence multiple subsequent stages of representation and processing. We examine the hypothesis that disruptions arising in nonform-based levels of planning—specifically, lexical selection—should modulate articulatory processing. A novel automatic phonetic analysis method was used to examine productions in a paradigm yielding both general disruptions to formulation processes and, more specifically, overt errors during lexical selection. This analysis method allowed us to examine articulatory disruptions at multiple levels of analysis, from whole words to individual segments. Baseline performance by young adults was contrasted with young speakers’ performance under time pressure (which previous work has argued increases interaction between planning and articulation) and performance by older adults (who may have difficulties inhibiting nontarget representations, leading to heightened interactive effects). The results revealed the presence of interactive effects. Our new analysis techniques revealed these effects were strongest in initial portions of responses, suggesting that speech is initiated as soon as the first segment has been planned. Interactive effects did not increase under response pressure, suggesting interaction between planning and articulation is relatively fixed. Unexpectedly, lexical selection disruptions appeared to yield some degree of facilitation in articulatory processing (possibly reflecting semantic facilitation of target retrieval) and older adults showed weaker, not stronger interactive effects (possibly reflecting weakened connections between lexical and form-level representations).

Abstract

* Ole Goltermann and Gökberk Alagöz contributed equally.
Primate brain evolution has involved prominent expansions of the cerebral cortex, with largest effects observed in the human lineage. Such expansions were accompanied by fine-grained anatomical alterations, including increased cortical folding. However, the molecular bases of evolutionary alterations in human sulcal organization are not yet well understood. Here, we integrated data from recently completed large-scale neuroimaging genetic analyses with annotations of the human genome relevant to various periods and events in our evolutionary history. These analyses identified single-nucleotide polymorphism (SNP) heritability enrichments in fetal brain human-gained enhancer (HGE) elements for a number of sulcal structures, including the central sulcus, which is implicated in human hand dexterity. We zeroed in on a genomic region that harbors DNA variants associated with left central sulcus shape, an HGE element, and genetic loci involved in neurogenesis including ZIC4, to illustrate the value of this approach for probing the complex factors contributing to human sulcal evolution.

Abstract

Chicks can convey information about their needs with calls. But it is still unknown if there are any universal need indicators in chick vocalizations. Previous studies have shown that in some species vocal activity and/or temporal-frequency variables of calls are related to the chick state, whereas other studies did not confirm it. Here, we tested experimentally whether vocal activity and temporal-frequency variables of calls change with cooling. We studied 10 human-raised
Siberian crane (Grus leucogeranus) chicks at 3–15 days of age. We found that the cooled chicks produced calls higher in fundamental
frequency and power variables, longer in duration and at a higher calling rate than in the control chicks. However, we did not find
significant changes in level of entropy and occurrence of non-linear phenomena in chick calls recorded during the experimental cooling. We suggest that the level of vocal activity is a universal indicator of need for warmth in precocial and semi-precocial birds (e.g. cranes), but not in altricial ones. We also assume that coding of needs via temporal-frequency variables of calls is typical in species whose adults could not confuse their chicks with other chicks. Siberian cranes stay on separate territories during their breeding season, so parents do not need to check individuality of their offspring in the home area. In this case, all call characteristics are available for other purposes and serve to communicate chicks’ vital needs.

Abstract

Formants, or resonance frequencies of the upper vocal tract, are an essential part of acoustic communication. Articulatory gestures—such as jaw, tongue, lip, and soft palate movements—shape formant structure in human vocalizations, but little is known about how nonhuman mammals use those gestures to modify formant frequencies. Here, we report a case study with an adult male harbor seal trained to produce an arbitrary vocalization composed of multiple repetitions of the sound wa. We analyzed jaw movements frame-by-frame and matched them to the tracked formant modulation in the corresponding vocalizations. We found that the jaw opening angle was strongly correlated with the first (F1) and, to a lesser degree, with the second formant (F2). F2 variation was better explained by the jaw angle opening when the seal was lying on his back rather than on the belly, which might derive from soft tissue displacement due to gravity. These results show that harbor seals share some common articulatory traits with humans, where the F1 depends more on the jaw position than F2. We propose further in vivo investigations of seals to further test the role of the tongue on formant modulation in mammalian sound production.

Abstract

Previous studies have described the existence of a phonotactic bias called the Labial–Coronal (LC) bias, corresponding to a tendency to produce more words beginning with a labial consonant followed by a coronal consonant (i.e. “bat”) than the opposite CL pattern (i.e. “tap”). This bias has initially been interpreted in terms of articulatory constraints of the human speech production system. However, more recently, it has been suggested that this presumably language-general LC bias in production might be accompanied by LC and CL biases in perception, acquired in infancy on the basis of the properties of the linguistic input. The present study investigates the origins of these perceptual biases, testing infants learning Japanese, a language that has been claimed to possess more CL than LC sequences, and comparing them with infants learning French, a language showing a clear LC bias in its lexicon. First, a corpus analysis of Japanese IDS and ADS revealed the existence of an overall LC bias, except for plosive sequences in ADS, which show a CL bias across counts. Second, speech preference experiments showed a perceptual preference for CL over LC plosive sequences (all recorded by a Japanese speaker) in 13- but not in 7- and 10-month-old Japanese-learning infants (Experiment 1), while revealing the emergence of an LC preference between 7 and 10 months in French-learning infants, using the exact same stimuli. These crosslinguistic behavioral differences, obtained with the same stimuli, thus reflect differences in processing in two populations of infants, which can be linked to differences in the properties of the lexicons of their respective native languages. These findings establish that the emergence of a CL/LC bias is related to exposure to a linguistic input.

Abstract

Background

Schizophrenia is a highly heritable disorder characterized by increased cortical thinning throughout the lifespan. Studies have reported a shared genetic basis between schizophrenia and cortical thickness. However, no genes whose expression is related to abnormal cortical thinning in schizophrenia have been identified.

Methods

We conducted linear mixed models to estimate the rates of accelerated cortical thinning across 68 regions from the Desikan-Killiany atlas in individuals with schizophrenia compared to healthy controls from a large longitudinal sample (NCases = 169 and NControls = 298, aged 16-70 years). We studied the correlation between gene expression data from the Allen Human Brain Atlas and accelerated thinning estimates across cortical regions. We finally explored the functional and genetic underpinnings of the genes most contributing to accelerated thinning.

Results

We described a global pattern of accelerated cortical thinning in individuals with schizophrenia compared to healthy controls. Genes underexpressed in cortical regions exhibiting this accelerated thinning were downregulated in several psychiatric disorders and were enriched for both common and rare disrupting variation for schizophrenia and neurodevelopmental disorders. In contrast, none of these enrichments were observed for baseline cross-sectional cortical thickness differences.

Conclusions

Our findings suggest that accelerated cortical thinning, rather than cortical thickness alone, serves as an informative phenotype for neurodevelopmental disruptions in schizophrenia. We highlight the genetic and transcriptomic correlates of this accelerated cortical thinning, emphasizing the need for future longitudinal studies to elucidate the role of genetic variation and the temporal-spatial dynamics of gene expression in brain development and aging in schizophrenia.

Abstract

Humans appear to rely on spatial mappings to represent and describe concepts. The conceptual cuing effect describes the tendency for participants to orient attention to a spatial location following the presentation of an unrelated cue word (e.g., orienting attention upward after reading the word sky). To date, such effects have predominately been explained within the embodied cognition framework, according to which people’s attention is oriented on the basis of prior experience (e.g., sky → up via perceptual simulation). However, this does not provide a compelling explanation for how abstract words have the same ability to orient attention. Why, for example, does dream also orient attention upward? We report on an experiment that investigated the role of language use (specifically, collocation between concept words and spatial words for up and down dimensions) and found that it predicted the cuing effect. The results suggest that language usage patterns may be instrumental in explaining conceptual cuing.

Abstract

When language abilities in aphasia are assessed in clinical and research settings, the standard practice is to examine each language of a multilingual person separately. But many multilingual individuals, with and without aphasia, mix their languages regularly when they communicate with other speakers who share their languages. We applied a novel approach to scoring language production of a multilingual person with aphasia. Our aim was to discover whether the assessment outcome would differ meaningfully when we count accurate responses in only the target language of the assessment session versus when we apply a translanguaging framework, that is, count all accurate responses, regardless of the language in which they were produced. The participant is a Farsi-German-English speaking woman with chronic moderate aphasia. We examined the participant’s performance on two picture-naming tasks, an answering wh-question task, and an elicited narrative task. The results demonstrated that scores in English, the participant’s third-learned and least-impaired language did not differ between the two scoring methods. Performance in German, the participant’s moderately impaired second language benefited from translanguaging-based scoring across the board. In Farsi, her weakest language post-CVA, the participant’s scores were higher under the translanguaging-based scoring approach in some but not all of the tasks. Our findings suggest that whether a translanguaging-based scoring makes a difference in the results obtained depends on relative language abilities and on pragmatic constraints, with additional influence of the linguistic distances between the languages in question.

Abstract

Our recent studies suggest that congenitally blind adults have severely impaired thresholds in an auditory spatial bisection task, pointing to the importance of vision in constructing complex auditory spatial maps (Gon etal., 2014). To explore strategies that may improve the auditory spatial sense in visually impaired people, we investigated the impact of tactile feedback on spatial auditory localization in 48 blindfolded sighted subjects. We measured auditory spatial bisection thresholds before and after training, either with tactile feedback, verbal feedback, or no feedback. Audio thresholds were first measured with a spatial bisection task: subjects judged whether the second sound of a three sound sequence was spatially closer to the first or the third sound. The tactile feedback group underwent two audio-tactile feedback sessions of 100 trials, where each auditory trial was followed by the same spatial sequence played on the subject's forearm; auditory spatial bisection thresholds were evaluated after each session. In the verbal feedback condition, the positions of the sounds were verbally reported to the subject after each feedback trial.The no feedback group did the same sequence of trials, with no feedback. Performance improved significantly only after audio-tactile feedback. The results suggest that direct tactile feedback interacts with the auditory spatial localization system, possibly by a process of cross-sensory recalibration. Control tests with the subject rotated suggested that this effect occurs only when the tactile and acoustic sequences are spatially congruent. Our results suggest that the tactile system can be used to recalibrate the auditory sense of space. These results encourage the possibility of designing rehabilitation programs to help blind persons establish a robust auditory sense of space, through training with the tactile modality.

Abstract

The acquisition of novel phonetic categories is hypothesized to be affected by the distributional properties of the input, the relation of the new categories to the native phonology, and the availability of supervision (feedback). These factors were examined in four experiments in which listeners were presented with novel categories based on vowels of Dutch. Distribution was varied such that the categorization depended on the single dimension duration, the single dimension frequency, or both dimensions at once. Listeners were clearly sensitive to the distributional information, but unidimensional contrasts proved easier to learn than multidimensional. The native phonology was varied by comparing Spanish versus American English listeners. Spanish listeners found categorization by frequency easier than categorization by duration, but this was not true of American listeners, whose native vowel system makes more use of duration-based distinctions. Finally, feedback was either available or not; this comparison showed supervised learning to be significantly superior to unsupervised learning.

Abstract

The involvement of neural motor and sensory systems in the processing of language has so far mainly been studied in native (L1) speakers. In an fMRI experiment, we investigated whether non-native (L2) semantic representations are rich enough to allow for activation in motor and somatosensory brain areas. German learners of Dutch and a control group of Dutch native speakers made lexical decisions about visually presented Dutch motor and non-motor verbs. Region-of-interest (ROI) and whole-brain analyses indicated that L2 speakers, like L1 speakers, showed significantly increased activation for simple motor compared to non-motor verbs in motor and somatosensory regions. This effect was not restricted to Dutch-German cognate verbs, but was also present for non-cognate verbs. These results indicate that L2 semantic representations are rich enough for motor-related activations to develop in motor and somatosensory areas.

Abstract

In this functional magnetic resonance imaging (fMRI) long-lag priming study, we investigated the processing of Dutch semantically transparent, derived prefix verbs. In such words, the meaning of the word as a whole can be deduced from the meanings of its parts, e.g., wegleggen “put aside.” Many behavioral and some fMRI studies suggest that native (L1) speakers decompose transparent derived words. The brain region usually implicated in morphological decomposition is the left inferior frontal gyrus (LIFG). In non-native (L2) speakers, the processing of transparent derived words has hardly been investigated, especially in fMRI studies, and results are contradictory: some studies find more reliance on holistic (i.e., non-decompositional) processing by L2 speakers; some find no difference between L1 and L2 speakers. In this study, we wanted to find out whether Dutch transparent derived prefix verbs are decomposed or processed holistically by German L2 speakers of Dutch. Half of the derived verbs (e.g., omvallen “fall down”) were preceded by their stem (e.g., vallen “fall”) with a lag of 4–6 words (“primed”); the other half (e.g., inslapen “fall asleep”) were not (“unprimed”). L1 and L2 speakers of Dutch made lexical decisions on these visually presented verbs. Both region of interest analyses and whole-brain analyses showed that there was a significant repetition suppression effect for primed compared to unprimed derived verbs in the LIFG. This was true both for the analyses over L2 speakers only and for the analyses over the two language groups together. The latter did not reveal any interaction with language group (L1 vs. L2) in the LIFG. Thus, L2 speakers show a clear priming effect in the LIFG, an area that has been associated with morphological decomposition. Our findings are consistent with the idea that L2 speakers engage in decomposition of transparent derived verbs rather than processing them holistically

Abstract

The search for common characteristics between the musical abilities of humans and other animal species is still taking its first steps. One of the most promising aspects from a comparative point of view is the analysis of rhythmic components, which are crucial features of human communicative performance but also well-identifiable patterns in the vocal displays of other species. Therefore, the study of rhythm is becoming essential to understand the mechanisms of singing behavior and the evolution of human communication. Recent findings provided evidence that particular rhythmic structures occur in human music and some singing animal species, such as birds and rock hyraxes, but only 2 species of nonhuman primates have been investigated so far (Indri indri and Hylobates lar). Therefore, our study aims to consistently broaden the list of species studied regarding the presence of rhythmic categories. We investigated the temporal organization in the singing of 3 species of crested gibbons (Nomascus gabriellae, Nomascus leucogenys, and Nomascus siki) and found that the most prominent rhythmic category was isochrony. Moreover, we found slight variation in songs’ tempo among species, with N. gabriellae and N. siki singing with a temporal pattern involving a gradually increasing tempo (a musical accelerando), and N. leucogenys with a more regular pattern. Here, we show how the prominence of a peak at the isochrony establishes itself as a shared characteristic in the small apes considered so far.

Abstract

Animal songs differ from calls in function and structure, and have comparative and translational value, showing similarities to human music. Rhythm in music is often distributed in quantized classes of intervals known as rhythmic categories. These classes have been found in the songs of a few nonhuman species but never in their calls. Are rhythmic categories song-specific, as in human music, or can they transcend the song–call boundary? We analyze the vocal displays of one of the few mammals producing both songs and call sequences: Indri indri. We test whether rhythmic categories (a) are conserved across songs produced in different contexts, (b) exist in call sequences, and (c) differ between songs and call sequences. We show that rhythmic categories occur across vocal displays. Vocalization type and function modulate deployment of categories. We find isochrony (1:1 ratio, like the rhythm of a ticking clock) in all song types, but only advertisement songs show three rhythmic categories (1:1, 1:2, 2:1 ratios). Like songs, some call types are also isochronous. Isochrony is the backbone of most indri vocalizations, unlike human speech, where it is rare. In indri, isochrony underlies both songs and hierarchy-less call sequences and might be ancestral to both.

Abstract

This study examined electrophysiological correlates of sentence comprehension of native-accented and foreign-accented
speech in a second language (L2), for sentences produced in a foreign accent different from that associated with the listeners’
L1. Bilingual speaker-listeners process different accents in their L2 conversations, but the effects on real-time L2 sentence
comprehension are unknown. Dutch–English bilinguals listened to native American-English accented sentences and foreign
(and for them unfamiliarly-accented) Chinese-English accented sentences while EEG was recorded. Behavioral sentence
comprehension was highly accurate for both native-accented and foreign-accented sentences. ERPs showed different patterns
for L2 grammar and semantic processing of native- and foreign-accented speech. For grammar, only native-accented speech
elicited an Nref. For semantics, both native- and foreign-accented speech elicited an N400 effect, but with a delayed onset
across both accent conditions. These findings suggest that the way listeners comprehend native- and foreign-accented
sentences in their L2 depends on their familiarity with the accent.

Abstract

The most well-described example of an inherited speech and language disorder is that observed in the multigenerational KE family, caused by a heterozygous missense mutation in the FOXP2 gene. Affected individuals are characterized by deficits in the learning and production of complex orofacial motor sequences underlying fluent speech and display impaired linguistic processing for both spoken and written language. The FOXP2 transcription factor is highly similar in many vertebrate species, with conserved expression in neural circuits related to sensorimotor integration and motor learning. In this study, we generated mice carrying an identical point mutation to that of the KE family, yielding the equivalent arginine-to-histidine substitution in the Foxp2 DNA-binding domain. Homozygous R552H mice show severe reductions in cerebellar growth and postnatal weight gain but are able to produce complex innate ultrasonic vocalizations. Heterozygous R552H mice are overtly normal in brain structure and development. Crucially, although their baseline motor abilities appear to be identical to wild-type littermates, R552H heterozygotes display significant deficits in species-typical motor-skill learning, accompanied by abnormal synaptic plasticity in striatal and cerebellar neural circuits.

Abstract

Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic variants contribute substantially to ASD susceptibility, but to date no individual variants have been robustly associated with ASD. With a marked sample-size increase from a unique Danish population resource, we report a genome-wide association meta-analysis of 18,381 individuals with ASD and 27,969 controls that identified five genome-wide-significant loci. Leveraging GWAS results from three phenotypes with significantly overlapping genetic architectures (schizophrenia, major depression, and educational attainment), we identified seven additional loci shared with other traits at equally strict significance levels. Dissecting the polygenic architecture, we found both quantitative and qualitative polygenic heterogeneity across ASD subtypes. These results highlight biological insights, particularly relating to neuronal function and corticogenesis, and establish that GWAS performed at scale will be much more productive in the near term in ASD.

Abstract

The left and right sides of the human brain are specialized for different kinds of information processing, and much of our cognition is lateralized to an extent towards one side or the other. Handedness is a reflection of nervous system lateralization. Roughly ten percent of people are mixed- or left-handed, and they show an elevated rate of reductions or reversals of some cerebral functional asymmetries compared to right-handers. Brain anatomical correlates of left-handedness have also been suggested. However, the relationships of left-handedness to brain structure and function remain far from clear. We carried out a comprehensive analysis of cortical surface area differences between 106 left-handed subjects and 1960 right-handed subjects, measured using an automated method of regional parcellation (FreeSurfer, Destrieux atlas). This is the largest study sample that has so far been used in relation to this issue. No individual cortical region showed an association with left-handedness that survived statistical correction for multiple testing, although there was a nominally significant association with the surface area of a previously implicated region: the left precentral sulcus. Identifying brain structural correlates of handedness may prove useful for genetic studies of cerebral asymmetries, as well as providing new avenues for the study of relations between handedness, cerebral lateralization and cognition.

Abstract

Functional and anatomical asymmetries are prevalent features of the human brain, linked to gender, handedness, and cognition. However, little is known about the neurodevelopmental processes involved. In zebrafish, asymmetries arise in the diencephalon before extending within the central nervous system. We aimed to identify genes involved in the development of subtle, left-right volumetric asymmetries of human subcortical structures using large datasets. We first tested the feasibility of measuring left-right volume differences in such large-scale samples, as assessed by two automated methods of subcortical segmentation (FSL|FIRST and FreeSurfer), using data from 235 subjects who had undergone MRI twice. We tested the agreement between the first and second scan, and the agreement between the segmentation methods, for measures of bilateral volumes of six subcortical structures and the hippocampus, and their volumetric asymmetries. We also tested whether there were biases introduced by left-right differences in the regional atlases used by the methods, by analyzing left-right flipped images. While many bilateral volumes were measured well (scan-rescan r = 0.6-0.8), most asymmetries, with the exception of the caudate nucleus, showed lower repeatabilites. We meta-analyzed genome-wide association scan results for caudate nucleus asymmetry in a combined sample of 3,028 adult subjects but did not detect associations at genome-wide significance (P < 5 × 10-8). There was no enrichment of genetic association in genes involved in left-right patterning of the viscera. Our results provide important information for researchers who are currently aiming to carry out large-scale genome-wide studies of subcortical and hippocampal volumes, and their asymmetries

Abstract

When the dead come home… Remarks on ancestor worship among the Lowland Mayas. In Amerindian ethnographical literature, ancestor worship is often mentioned but evidence of its existence is lacking. This article will try to demonstrate that some Lowland Maya do worship ancestors ; it will use precise criteria taken from ethnological studies of societies where ancestor worship is common, compared to maya beliefs and practices. The All Souls’ Day, or hanal pixan, seems to be the most significant manifestation of this cult. Our approach will be comparative, through time – using colonial and ethnographical data of the twentieth century, and space – contemplating uses and beliefs of two maya groups, the Yucatec and the Lacandon Maya.

Abstract

The aim of this article is to analyze the funerary customs and ritual for the souls among contemporary Yucatec Maya in order to better understand their relations with pre-Hispanic burial patterns. It is suggested that the souls of the dead are considered as ancestors that can be distinguished between family and collective ancestors considering several criteria: the place of burial, the place of ritual performance and the ritual treatment. In this proposition, funerary practices as well as ritual categories of ancestors (family or collective), are considered as reminiscences of ancient practices whose traces can be found throughout historical sources. Through an analyze of the current funerary practices and their variations, this article aims to demonstrate that over the time and despite socio-economical changes, ancient funerary practices (specifically from the post-classic period) had kept some homogeneity, preserving some essential characteristics that can be observed in the actuality.

Abstract

A large body of evidence has shown that visual context information can rapidly modulate language comprehension for concrete sentences and when it is mediated by a referential or a lexical-semantic link. What has not yet been examined is whether visual context can also modulate comprehension of abstract sentences incrementally when it is neither referenced by, nor lexically associated with, the sentence. Three eye-tracking reading experiments examined the effects of spatial distance between words (Experiment 1) and objects (Experiment 2 and 3) on participants’ reading times for sentences that convey similarity or difference between two abstract nouns (e.g., ‘Peace and war are certainly different...’). Before reading the sentence, participants inspected a visual context with two playing cards that moved either far apart or close together. In Experiment 1, the cards turned and showed the first two nouns of the sentence (e.g., ‘peace’, ‘war’). In Experiments 2 and 3, they turned but remained blank. Participants’ reading times at the adjective (Experiment 1: first-pass reading time; Experiment 2: total times) and at the second noun phrase (Experiment 3: first-pass times) were faster for sentences that expressed similarity when the preceding words/objects were close together (vs. far apart) and for sentences that expressed dissimilarity when the preceding words/objects were far apart (vs. close together). Thus, spatial distance between words or entirely unrelated objects can rapidly and incrementally modulate the semantic interpretation of abstract sentences.

Abstract

Partisan gerrymandering poses a threat to democracy. Moreover, the complexity of the districting task may exceed human capacities. One potential solution is using computational models to automate the districting process by optimizing objective and open criteria, such as how spatially compact districts are. We formulated one such model that minimised pairwise distance between voters within a district. Using US Census Bureau data, we confirmed our prediction that the difference in compactness between the computed and actual districts would be greatest for states that are large and, therefore, difficult for humans to properly district given their limited capacities. The computed solutions highlighted differences in how humans and machines solve this task with machine solutions more fully optimised and displaying emergent properties not evident in human solutions. These results suggest a division of labour in which humans debate and formulate districting criteria whereas machines optimise the criteria to draw the district boundaries. We discuss how criteria can be expanded beyond notions of compactness to include other factors, such as respecting municipal boundaries, historic communities, and relevant legislation.

Abstract

The purpose of the current paper is to outline how gestures can contribute to the study of some key issues in language development. Specifically, we (1) briefly summarise what is already known about gesture in the domains of first and second language development, and development or changes over the life span more generally; (2) highlight theoretical and empirical issues in these domains where gestures can contribute in important ways to further our understanding; and (3) summarise some common themes in all strands of research on language development that could be the target of concentrated research efforts.

Abstract

The title of this special issue, Gesture and SLA: Toward an Integrated Approach, stems in large part from the idea known as integrationism, principally set forth by Harris (2003, 2005), which posits that it is time to “demythologize” linguistics, moving away from the “orthodox exponents” that have idealized the notion of language. The integrationist approach intends a view that focuses on communication—that is, language in use, language as a “fact of life” (Harris, 2003, p. 50). Although not all gesture studies embrace an integrationist view—indeed, the field applies numerous theories across various disciplines—it is nonetheless true that to study gesture is to study what has traditionally been called paralinguistic modes of interaction, with the paralinguistic label given on the assumption that gesture is not part of the core meaning of what is rendered linguistically. However, arguably, most researchers within gesture studies would maintain just the opposite: The studies presented in this special issue reflect a view whereby gesture is regarded as a central aspect of language in use, integral to how we communicate (make meaning) both with each other and with ourselves.

Abstract

This study explores how French adults and children aged four and six years talk and gesture about voluntary motion, examining (1) how they encode path and manner in speech, (2) how they encode this information in accompanying gestures; and (3) whether gestures are co-expressive with speech or express other information. When path and manner are equally relevant, children’s and adults’ speech and gestures both focus on path, rather than on manner. Moreover, gestures are predominantly co-expressive with speech at all ages. However, when they are non-redundant, adults tend to gesture about path while talking about manner, whereas children gesture about both path and manner while talking about path. The discussion highlights implications for our understanding of speakers’ representations and their development.

Abstract

Since listeners usually look at the speaker's face, gestural information has to be absorbed through peripheral visual perception. In the literature, it has been suggested that listeners look at gestures under certain circumstances: 1) when the articulation of the gesture is peripheral; 2) when the speech channel is insufficient for comprehension; and 3) when the speaker him- or herself indicates that the gesture is worthy of attention. The research here reported employs eye tracking techniques to study the perception of gestures in face-to-face interaction. The improved control over the listener's visual channel allows us to test the validity of the above claims. We present preliminary findings substantiating claims 1 and 3, and relate them to theoretical proposals in the literature and to the issue of how visual and cognitive attention are related.

Abstract

One of the features that distinguishes modern humans from our extinct relatives
and ancestors is a globular shape of the braincase [1-4]. As the endocranium
closely mirrors the outer shape of the brain, these differences might reflect
altered neural architecture [4,5]. However, in the absence of fossil brain tissue the
underlying neuroanatomical changes as well as their genetic bases remain
elusive. To better understand the biological foundations of modern human
endocranial shape, we turn to our closest extinct relatives, the Neandertals.
Interbreeding between modern humans and Neandertals has resulted in
introgressed fragments of Neandertal DNA in the genomes of present-day non-
Africans [6,7]. Based on shape analyses of fossil skull endocasts, we derive a
measure of endocranial globularity from structural magnetic resonance imaging
(MRI) scans of thousands of modern humans, and study the effects of
introgressed fragments of Neandertal DNA on this phenotype. We find that
Neandertal alleles on chromosomes 1 and 18 are associated with reduced
endocranial globularity. These alleles influence expression of two nearby genes,
UBR4 and PHLPP1, which are involved in neurogenesis and myelination,
respectively. Our findings show how integration of fossil skull data with archaic
genomics and neuroimaging can suggest developmental mechanisms that may
contribute to the unique modern human endocranial shape.

Abstract

In two studies subjects were required to read Dutch sentences that in some cases contained a syntactic violation, in other cases a semantic violation. All syntactic violations were word category violations. The design excluded differential contributions of expectancy to influence the syntactic violation effects. The syntactic violations elicited an Anterior Negativity between 300 and 500 ms. This negativity was bilateral and had a frontal distribution. Over posterior sites the same violations elicited a P600/SPS starting at about 600 ms. The semantic violations elicited an N400 effect. The topographic distribution of the AN was more frontal than the distribution of the classical N400 effect, indicating that the underlying generators of the AN and the N400 are, at least to a certain extent, non-overlapping. Experiment 2 partly replicated the design of Experiment 1, but with differences in rate of presentation and in the distribution of items over subjects, and without semantic violations. The word category violations resulted in the same effects as were observed in Experiment 1, showing that they were independent of some of the specific parameters of Experiment 1. The discussion presents a tentative account of the functional differences in the triggering conditions of the AN and the P600/SPS.

Abstract

Claims that neuroscientific data do not contribute to our understanding of psychological functions have been made recently. Here I argue that these criticisms are solely based on an analysis of functional magnetic resonance imaging (fMRI) studies. However, fMRI is only one of the methods in the toolkit of cognitive neuroscience. I provide examples from research on event-related brain potentials (ERPs) that have contributed to our understanding of the cognitive architecture of human language functions. In addition, I provide evidence of (possible) contributions from fMRI measurements to our understanding of the functional architecture of language processing. Finally, I argue that a neurobiology of human language that integrates information about the necessary genetic and neural infrastructures will allow us to answer certain questions that are not answerable if all we have is evidence from behavior.

Abstract

To understand spoken language requires that the brain provides rapid access to different kinds of knowledge, including the sounds and meanings of words, and syntax. Syntax specifies constraints on combining words in a grammatically well formed manner. Agrammatic patients are deficient in their ability to use these constraints, due to a lesion in the perisylvian area of the languagedominant hemisphere. We report a study on real-time auditory sentence processing in agrammatic comprehenders, examining
their ability to accommodate damage to the language system. We recorded event-related brain potentials (ERPs) in agrammatic comprehenders, nonagrammatic aphasics, and age-matched controls. When listening to sentences with grammatical violations, the agrammatic aphasics did not show the same syntax-related ERP effect as the two other subject groups. Instead, the waveforms of the agrammatic aphasics were dominated by a meaning-related ERP effect, presumably reflecting their attempts to achieve understanding by the use of semantic constraints. These data demonstrate that although agrammatic aphasics are impaired in their ability to exploit syntactic information in real time, they can reduce the consequences of a syntactic deficit by exploiting a semantic route. They thus provide evidence for the compensation of a syntactic deficit by a stronger reliance on another route in mapping
sound onto meaning. This is a form of plasticity that we refer to as multiple-route plasticity.

Abstract

This paper focuses on what electrical and magnetic recordings of human brain activity reveal about spoken language understanding. Based on the high temporal resolution of these recordings, a fine-grained temporal profile of different aspects of spoken language comprehension can be obtained. Crucial aspects of speech comprehension are lexical access, selection and semantic integration. Results show that for words spoken in context, there is no ‘magic moment’ when lexical selection ends and semantic integration begins. Irrespective of whether words have early or late recognition points, semantic integration processing is initiated before words can be identified on the basis of the acoustic information alone. Moreover, for one particular event-related brain potential (ERP) component (the N400), equivalent impact of sentence- and discourse-semantic contexts is observed. This indicates that in comprehension, a spoken word is immediately evaluated relative to the widest interpretive domain available. In addition, this happens very quickly. Findings are discussed that show that often an unfolding word can be mapped onto discourse-level representations well before the end of the word. Overall, the time course of the ERP effects is compatible with the view that the different information types (lexical, syntactic, phonological, pragmatic) are processed in parallel and influence the interpretation process incrementally, that is as soon as the relevant pieces of information are available. This is referred to as the immediacy principle.

Abstract

In an event-related potential experiment with Chinese discourses as material, we investigated how and when accentuation influences spoken discourse comprehension in relation to the different information states of the critical words. These words could either provide new or old information. It was shown that variation of accentuation influenced the amplitude of the N400, with a larger amplitude for accented than deaccented words. In addition, there was an interaction between accentuation and information state. The N400 amplitude difference between accented and deaccented new information was smaller than that between accented and deaccented old information. The results demonstrate that, during spoken discourse comprehension, listeners rapidly extract the semantic consequences of accentuation in relation to the previous discourse context. Moreover, our results show that the N400 amplitude can be larger for correct (new,accented words) than incorrect (new, deaccented words) information. This, we argue, proves that the N400 does not react to semantic anomaly per se, but rather to semantic integration load, which is higher for new information.

Abstract

Syntax is one of the components in the architecture of language processing that allows the listener/reader to bind single-word information into a unified interpretation of multiword utterances. This paper discusses ERP effects that have been observed in relation to syntactic processing. The fact that these effects differ from the semantic N400 indicates that the brain honors the distinction between semantic and syntactic binding operations. Two models of syntactic processing attempt to account for syntax-related ERP effects. One type of model is serial, with a first phase that is purely syntactic in nature (syntax-first model). The other type of model is parallel and assumes that information immediately guides the interpretation process once it becomes available. This is referred to as the immediacy model. ERP evidence is presented in support of the latter model. Next, an explicit computational model is proposed to explain the ERP data. This Unification Model assumes that syntactic frames are stored in memory and retrieved on the basis of the spoken or written word form input. The syntactic frames associated with the individual lexical items are unified by a dynamic binding process into a structural representation that spans the whole utterance. On the basis of a meta-analysis of imaging studies on syntax, it is argued that the left posterior inferior frontal cortex is involved in binding syntactic frames together, whereas the left superior temporal cortex is involved in retrieval of the syntactic frames stored in memory. Lesion data that support the involvement of this left frontotemporal network in syntactic processing are discussed.

Abstract

This study investigated the effects of combined semantic and syntactic violations in relation to the effects of single semantic and single syntactic violations on language-related event-related brain potential (ERP) effects (N400 and P600/ SPS). Syntactic violations consisted of a mismatch in grammatical gender or number features of the definite article and the noun in sentence-internal or sentence-final noun phrases (NPs). Semantic violations consisted of semantically implausible adjective–noun combinations in the same NPs. Combined syntactic and semantic violations were a summation of these two respective violation types. ERPs were recorded while subjects read the sentences with the different types of violations and the correct control sentences. ERP effects were computed relative to ERPs elicited by the sentence-internal or sentence-final nouns. The size of the N400 effect to the semantic violation was increased by an additional syntactic violation (the syntactic boost). In contrast, the size of the P600/ SPS to the syntactic violation was not affected by an additional semantic violation. This suggests that in the absence of syntactic ambiguity, the assignment of syntactic structure is independent of semantic context. However, semantic integration is influenced by syntactic processing. In the sentence-final position, additional global processing consequences were obtained as a result of earlier violations in the sentence. The resulting increase in the N400 amplitude to sentence-final words was independent of the nature of the violation. A speeded anomaly detection task revealed that it takes substantially longer to detect semantic than syntactic anomalies. These results are discussed in relation to the latency and processing characteristics of the N400 and P600/SPS effects. Overall, the results reveal an asymmetry in the interplay between syntax and semantics during on-line sentence comprehension.

Abstract

The central issue of this study concerns the claim that the processing of gender agreement in online sentence comprehension is a syntactic rather than a conceptual/semantic process. This claim was tested for the grammatical gender agreement in Dutch between the definite article and the noun. Subjects read sentences in which the definite article and the noun had the same gender and sentences in which the gender agreement was violated, While subjects read these sentences, their electrophysiological activity was recorded via electrodes placed on the scalp. Earlier research has shown that semantic and syntactic processing events manifest themselves in different event-related brain potential (ERP) effects. Semantic integration modulates the amplitude of the so-called N400.The P600/SPS is an ERP effect that is more sensitive to syntactic processes. The violation of grammatical gender agreement was found to result in a P600/SPS. For violations in sentence-final position, an additional increase of the N400 amplitude was observed. This N400 effect is interpreted as resulting from the consequence of a syntactic violation for the sentence-final wrap-up. The overall pattern of results supports the claim that the on-line processing of gender agreement information is not a content driven but a syntactic-form driven process.

Abstract

Current views on the neurobiological underpinnings of language are discussed that deviate in a number of ways from the classical Wernicke–Lichtheim–Geschwind model. More areas than Broca's and Wernicke's region are involved in language. Moreover, a division along the axis of language production and language comprehension does not seem to be warranted. Instead, for central aspects of language processing neural infrastructure is shared between production and comprehension. Three different accounts of the role of Broca's area in language are discussed. Arguments are presented in favor of a dynamic network view, in which the functionality of a region is co-determined by the network of regions in which it is embedded at particular moments in time. Finally, core regions of language processing need to interact with other networks (e.g. the attentional networks and the ToM network) to establish full functionality of language and communication.

Abstract

In this contribution, the following four questions are discussed: (i) where is meaning?; (ii) what is meaning?; (iii) what is the meaning of mechanism?; (iv) what are the mechanisms of meaning? I will argue that meanings are in the head. Meanings have multiple facets, but minimally one needs to make a distinction between single word meanings (lexical meaning) and the meanings of multi-word utterances. The latter ones cannot be retrieved from memory, but need to be constructed on the fly. A mechanistic account of the meaning-making mind requires an analysis at both a functional and a neural level, the reason being that these levels are causally interdependent. I will show that an analysis exclusively focusing on patterns of brain activation lacks explanatory power. Finally, I shall present an initial sketch of how the dynamic interaction between temporo-parietal areas and inferior frontal cortex might instantiate the interpretation of linguistic utterances in the context of a multimodal setting and ongoing discourse information.

Abstract

Silent reading and reading aloud of German words and pseudowords were used in a PET study using (15O)butanol to examine the neural correlates of reading and of the phonological conversion of legal letter strings, with or without meaning.
The results of 11 healthy, right-handed volunteers in the age range of 25 to 30 years showed activation of the lingual gyri during silent reading in comparison with viewing a fixation cross. Comparisons between the reading of words and pseudowords suggest the involvement of the middle temporal gyri in retrieving both the phonological and semantic code for words. The reading of pseudowords activates the left inferior frontal gyrus, including the ventral part of Broca’s area, to a larger extent than the reading of words. This suggests that this area might be involved in the sublexical conversion of orthographic input strings into phonological output codes. (Pre)motor areas were found to be activated during both silent reading and reading aloud. On the basis of the obtained activation patterns, it is hypothesized that the articulation of high-frequency syllables requires the retrieval of their concomitant articulatory gestures from the SMA and that the articulation of lowfrequency syllables recruits the left medial premotor cortex.

Abstract

In this Review, I propose a multiple-network view for the neurobiological basis of distinctly human language skills. A much more complex picture of interacting brain areas emerges than in the classical neurobiological model of language. This is because using language is more than single-word processing, and much goes on beyond the information given in the acoustic or orthographic tokens that enter primary sensory cortices. This requires the involvement of multiple networks with functionally nonoverlapping contributions

Abstract

A hallmark of human language is that we combine lexical building blocks retrieved from memory in endless new ways. This combinatorial aspect of language is referred to as unification. Here we focus on the neurobiological infrastructure for syntactic and semantic unification. Unification is characterized by a high-speed temporal profile including both prediction and integration of retrieved lexical elements. A meta-analysis of numerous neuroimaging studies reveals a clear dorsal/ventral gradient in both left inferior frontal cortex and left posterior temporal cortex, with dorsal foci for syntactic processing and ventral foci for semantic processing. In addition to core areas for unification, further networks need to be recruited to realize language-driven communication to its full extent. One example is the theory of mind network, which allows listeners and readers to infer the intended message (speaker meaning) from the coded meaning of the linguistic utterance. This indicates that sensorimotor simulation cannot handle all of language processing.

Abstract

Language is inherently multimodal. In spoken languages, combined spoken and visual signals (e.g., co-speech gestures) are an integral part of linguistic structure and language representation. This requires an extension of the parallel architecture, which needs to include the visual signals concomitant to speech. We present the evidence for the multimodality of language. In addition, we propose that distributional semantics might provide a format for integrating speech and co-speech gestures in a common semantic representation.

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

Speech production studies have shown that phonological unit initially used to fill the metrical frame during phonological encoding is language specific, that is, a phoneme for English and Dutch, an atonal syllable for Mandarin Chinese, and a mora for Japanese. However, only a few studies chronometrically investigated speech production in Korean, and they obtained mixed results. Korean is particularly interesting as there might be both phonemic and syllabic influences during phonological encoding. The purpose of this study is to further examine the initial phonological preparation unit in Korean, employing a masked priming task (Experiment 1) and a phonological Stroop task (Experiment 2). The results showed that significant onset (and onset-plus, that is, consonant-vowel [CV]) effects were found in both experiments, but there was no compelling evidence for a prominent role for the syllable. When the prime words were presented in three different forms related to the targets, namely, without any change, with re-syllabified codas, and with nasalised codas, there were no significant differences in facilitation among the three forms. Alternatively, it is also possible that participants may not have had sufficient time to process the primes up to the point that re-syllabification or nasalisation could have been carried out. In addition, the results of a Stroop task demonstrated that the onset phoneme effect was not driven by any orthographic influence. These findings suggest that the onset segment and not the syllable is the initial (or proximate) phonological unit used in the segment-to-frame encoding process during speech planning in Korean.

Abstract

Feedback has been shown to be effective in shifting attention across perceptual cues to a phonological contrast in speech perception (Francis, Baldwin & Nusbaum, 2000). However, the learning mechanisms behind this process remain obscure. We compare the predictions of supervised error-driven learning (Rescorla & Wagner, 1972) and reinforcement learning (Sutton & Barto, 1998) using computational simulations. Supervised learning predicts downweighting of an informative cue when the learner receives evidence that it is no longer informative. In contrast, reinforcement learning suggests that a reduction in cue weight requires positive evidence for the informativeness of an alternative cue. Experimental evidence supports the latter prediction, implicating reinforcement learning as the mechanism behind the effect of feedback on cue weighting in speech perception. Native English listeners were exposed to either bimodal or unimodal VOT distributions spanning the unaspirated/aspirated boundary (bear/pear). VOT is the primary cue to initial stop voicing in English. However, lexical feedback in training indicated that VOT was no longer predictive of voicing. Reduction in the weight of VOT was observed only when participants could use an alternative cue, F0, to predict voicing. Frequency distributions had no effect on learning. Overall, the results suggest that attention shifting in learning the phonetic cues to phonological categories is accomplished using simple reinforcement learning principles that also guide the choice of actions in other domains.

Abstract

Previous studies have linked the low expression variant of a variable number of tandem repeat polymorphism in the monoamine oxidase A gene (MAOA‐L) to the risk for impulsivity and aggression, brain developmental abnormalities, altered cortico‐limbic circuit function, and an exaggerated neural serotonergic tone. However, the neurobiological effects of this variant on human brain network architecture are incompletely understood. We studied healthy individuals and used multimodal neuroimaging (sample size range: 219–284 across modalities) and network‐based statistics (NBS) to probe the specificity of MAOA‐L‐related connectomic alterations to cortical‐limbic circuits and the emotion processing domain. We assessed the spatial distribution of affected links across several neuroimaging tasks and data modalities to identify potential alterations in network architecture. Our results revealed a distributed network of node links with a significantly increased connectivity in MAOA‐L carriers compared to the carriers of the high expression (H) variant. The hyperconnectivity phenotype primarily consisted of between‐lobe (“anisocoupled”) network links and showed a pronounced involvement of frontal‐temporal connections. Hyperconnectivity was observed across functional magnetic resonance imaging (fMRI) of implicit emotion processing (pFWE = .037), resting‐state fMRI (pFWE = .022), and diffusion tensor imaging (pFWE = .044) data, while no effects were seen in fMRI data of another cognitive domain, that is, spatial working memory (pFWE = .540). These observations are in line with prior research on the MAOA‐L variant and complement these existing data by novel insights into the specificity and spatial distribution of the neurogenetic effects. Our work highlights the value of multimodal network connectomic approaches for imaging genetics.

Abstract

Research on language evolution is an established subject area yet permeated by terminological controversies about which topics should be considered pertinent to the field and which not. By consequence, scholars focusing on language evolution struggle in providing precise demarcations of the discipline, where even the very central notions of evolution and language are elusive. We aimed at providing a data-driven characterisation of language evolution as a field of research by relying on quantitative analysis of data drawn from 697 reviews on 255 submissions from the Joint Conference on Language Evolution 2022 (Kanazawa, Japan). Our results delineate a field characterized by a core of main research topics such as iconicity, sign language, multimodality. Despite being explored within the framework of language evolution research, only very recently these topics became popular in linguistics. As a result, language evolution has the potential to emerge as a forefront of linguistic research, bringing innovation to the study of language. We also see the emergence of more recent topics like rhythm, music, and vocal learning. Furthermore, the community identifies cognitive science, primatology, archaeology, palaeoanthropology, and genetics as key areas, encouraging empirical rather than theoretical work. With new themes, models, and methodologies emerging, our results depict an intrinsically multidisciplinary and evolving research field, likely adapting as language itself.

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

Human infants imitate not only to acquire skill, but also as a fundamental part of social interaction [1] , [2] and [3] . They recognise when they are being imitated by showing increased visual attention to imitators (implicit recognition) and by engaging in so-called testing behaviours (explicit recognition). Implicit recognition affords the ability to recognize structural and temporal contingencies between actions across agents, whereas explicit recognition additionally affords the ability to understand the directional impact of one's own actions on others' actions [1] , [2] and [3] . Imitation recognition is thought to foster understanding of social causality, intentionality in others and the formation of a concept of self as different from other [3] , [4] and [5] . Pigtailed macaques (Macaca nemestrina) implicitly recognize being imitated [6], but unlike chimpanzees [7], they show no sign of explicit imitation recognition. We investigated imitation recognition in 11 individuals from the four species of non-human great apes. We replicated results previously found with a chimpanzee [7] and, critically, have extended them to the other great ape species. Our results show a general prevalence of imitation recognition in all great apes and thereby demonstrate important differences between great apes and monkeys in their understanding of contingent social interactions.

Abstract

Cranial growth and development is a complex process which affects the closely related traits of head circumference (HC) and intracranial volume (ICV). The underlying genetic influences affecting these traits during the transition from childhood to adulthood are little understood, but might include both age-specific genetic influences and low-frequency genetic variation. To understand these influences, we model the developmental genetic architecture of HC, showing this is genetically stable and correlated with genetic determinants of ICV. Investigating up to 46,000 children and adults of European descent, we identify association with final HC and/or final ICV+HC at 9 novel common and low-frequency loci, illustrating that genetic variation from a wide allele frequency spectrum contributes to cranial growth. The largest effects are reported for low-frequency variants within TP53, with 0.5 cm wider heads in increaser-allele carriers versus non-carriers during mid-childhood, suggesting a previously unrecognized role of TP53 transcripts in human cranial development.

Abstract

Background
Autism and different neurodevelopmental conditions frequently co-occur, as do their symptoms at sub-diagnostic threshold levels. Overlapping traits and shared genetic liability are potential explanations.

Methods
In the population-based Norwegian Mother, Father, and Child Cohort study (MoBa), we leverage item-level data to explore the phenotypic factor structure and genetic architecture underlying neurodevelopmental traits at age 3 years (N = 41,708–58,630) using maternal reports on 76 items assessing children’s motor and language development, social functioning, communication, attention, activity regulation, and flexibility of behaviors and interests.

Results
We identified 11 latent factors at the phenotypic level. These factors showed associations with diagnoses of autism and other neurodevelopmental conditions. Most shared genetic liabilities with autism, ADHD, and/or schizophrenia. Item-level GWAS revealed trait-specific genetic correlations with autism (items rg range = − 0.27–0.78), ADHD (items rg range = − 0.40–1), and schizophrenia (items rg range = − 0.24–0.34). We find little evidence of common genetic liability across all neurodevelopmental traits but more so for several genetic factors across more specific areas of neurodevelopment, particularly social and communication traits. Some of these factors, such as one capturing prosocial behavior, overlap with factors found in the phenotypic analyses. Other areas, such as motor development, seemed to have more heterogenous etiology, with specific traits showing a less consistent pattern of genetic correlations with each other.

Conclusions
These exploratory findings emphasize the etiological complexity of neurodevelopmental traits at this early age. In particular, diverse associations with neurodevelopmental conditions and genetic heterogeneity could inform follow-up work to identify shared and differentiating factors in the early manifestations of neurodevelopmental traits and their relation to autism and other neurodevelopmental conditions. This in turn could have implications for clinical screening tools and programs.

Abstract

Rare disruptions of the transcription factor FOXP1 are implicated in a human neurodevelopmental disorder characterized by autism and/or intellectual disability with prominent problems in speech and language abilities. Avian orthologues of this transcription factor are evolutionarily conserved and highly expressed in specific regions of songbird brains, including areas associated with vocal production learning and auditory perception. Here, we investigated possible contributions of FoxP1 to song discrimination and auditory perception in juvenile and adult female zebra finches. They received lentiviral knockdowns of FoxP1 in one of two brain areas involved in auditory stimulus processing, HVC (proper name) or CMM (caudomedial mesopallium). Ninety-six females, distributed over different experimental and control groups were trained to discriminate between two stimulus songs in an operant Go/Nogo paradigm and subsequently tested with an array of stimuli. This made it possible to assess how well they recognized and categorized altered versions of training stimuli and whether localized FoxP1 knockdowns affected the role of different features during discrimination and categorization of song. Although FoxP1 expression was significantly reduced by the knockdowns, neither discrimination of the stimulus songs nor categorization of songs modified in pitch, sequential order of syllables or by reversed playback were affected. Subsequently, we analyzed the full dataset to assess the impact of the different stimulus manipulations for cue weighing in song discrimination. Our findings show that zebra finches rely on multiple parameters for song discrimination, but with relatively more prominent roles for spectral parameters and syllable sequencing as cues for song discrimination.

NEW & NOTEWORTHY In humans, mutations of the transcription factor FoxP1 are implicated in speech and language problems. In songbirds, FoxP1 has been linked to male song learning and female preference strength. We found that FoxP1 knockdowns in female HVC and caudomedial mesopallium (CMM) did not alter song discrimination or categorization based on spectral and temporal information. However, this large dataset allowed to validate different cue weights for spectral over temporal information for song recognition.

Abstract

While rhythm can facilitate and enhance many aspects of behavior, its evolutionary trajectory in vocal communication systems remains enigmatic. We can trace evolutionary processes by investigating rhythmic abilities in different species, but research to date has largely focused on songbirds and primates. We present evidence that cetaceans—whales, dolphins, and porpoises—are a missing piece of the puzzle for understanding why rhythm evolved in vocal communication systems. Cetaceans not only produce rhythmic vocalizations but also exhibit behaviors known or thought to play a role in the evolution of different features of rhythm. These behaviors include vocal learning abilities, advanced breathing control, sexually selected vocal displays, prolonged mother–infant bonds, and behavioral synchronization. The untapped comparative potential of cetaceans is further enhanced by high interspecific diversity, which generates natural ranges of vocal and social complexity for investigating various evolutionary hypotheses. We show that rhythm (particularly isochronous rhythm, when sounds are equally spaced in time) is prevalent in cetacean vocalizations but is used in different contexts by baleen and toothed whales. We also highlight key questions and research areas that will enhance understanding of vocal rhythms across taxa. By coupling an infraorder-level taxonomic assessment of vocal rhythm production with comparisons to other species, we illustrate how broadly comparative research can contribute to a more nuanced understanding of the prevalence, evolution, and possible functions of rhythm in animal communication.

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

Learning to read is associated with the appearance of an orthographically sensitive brain region known as the visual word form area. It has been claimed that development of this area proceeds by impinging upon territory otherwise available for the processing of culturally relevant stimuli such as faces and houses. In a large-scale functional magnetic resonance imaging study of a group of individuals of varying degrees of literacy (from completely illiterate to highly literate), we examined cortical responses to orthographic and nonorthographic visual stimuli. We found that literacy enhances responses to other visual input in early visual areas and enhances representational similarity between text and faces, without reducing the extent of response to nonorthographic input. Thus, acquisition of literacy in childhood recycles existing object representation mechanisms but without destructive competition.

Abstract

Speech comprehension is resistant to acoustic distortion in the input, reflecting listeners' ability to adjust perceptual processes to match the speech input. This adjustment is reflected in improved comprehension of distorted speech with experience. For noise vocoding, a manipulation that removes spectral detail from speech, listeners' word report showed a significantly greater improvement over trials for listeners that heard clear speech presentations before rather than after hearing distorted speech (clear-then-distorted compared with distorted-then-clear feedback, in Experiment 1). This perceptual learning generalized to untrained words suggesting a sublexical locus for learning and was equivalent for word and nonword training stimuli (Experiment 2). These findings point to the crucial involvement of phonological short-term memory and top-down processes in the perceptual learning of noise-vocoded speech. Similar processes may facilitate comprehension of speech in an unfamiliar accent or following cochlear implantation.

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

We investigate the type of attention (domain-general or language-specific) used during
syntactic processing. We focus on syntactic priming: In this task, participants listen to a
sentence that describes a picture (prime sentence), followed by a picture the participants need
to describe (target sentence). We measure the proportion of times participants use the
syntactic structure they heard in the prime sentence to describe the current target sentence as a
measure of syntactic processing. Participants simultaneously conducted a motion-object
tracking (MOT) task, a task commonly used to tax domain-general attentional resources. We
manipulated the number of objects the participant had to track; we thus measured
participants’ ability to process syntax while their attention is not-, slightly-, or overly-taxed.
Performance in the MOT task was significantly worse when conducted as a dual-task
compared to as a single task. We observed an inverted U-shaped curve on priming magnitude
when conducting the MOT task concurrently with prime sentences (i.e., memory encoding),
but no effect when conducted with target sentences (i.e., memory retrieval). Our results
illustrate how, during the encoding of syntactic information, domain-general attention
differentially affects syntactic processing, whereas during the retrieval of syntactic
information domain-general attention does not influence syntactic processing

Abstract

Using language requires access to domain-specific linguistic representations, but also draws on domain-general cognitive skills. A key issue in current psycholinguistics is to situate linguistic processing in the network of human cognitive abilities. Here, we focused on spoken word recognition and used an individual differences approach to examine the links of scores in word recognition tasks with scores on tasks capturing effects of linguistic experience, general processing speed, working memory, and non-verbal reasoning. 281 young native speakers of Dutch completed an extensive test battery assessing these cognitive skills. We used psychometric network analysis to map out the direct links between the scores, that is, the unique variance between pairs of scores, controlling for variance shared with the other scores. The analysis revealed direct links between word recognition skills and processing speed. We discuss the implications of these results and the potential of psychometric network analysis for studying language processing and its embedding in the broader cognitive system.

Abstract

We introduce the Individual Differences in Language Skills (IDLaS-NL) web platform, which enables users to run studies on individual differences in Dutch language skills via the internet. IDLaS-NL consists of 35 behavioral tests, previously validated in participants aged between 18 and 30 years. The platform provides an intuitive graphical interface for users to select the tests they wish to include in their research, to divide these tests into different sessions and to determine their order. Moreover, for standardized administration the platform
provides an application (an emulated browser) wherein the tests are run. Results can be retrieved by mouse click in the graphical interface and are provided as CSV-file output via email. Similarly, the graphical interface enables researchers to modify and delete their study configurations. IDLaS-NL is intended for researchers, clinicians, educators and in general anyone conducting fundaental research into language and general cognitive skills; it is not intended for diagnostic purposes. All platform services are free of charge. Here, we provide a
description of its workings as well as instructions for using the platform. The IDLaS-NL platform can be accessed at www.mpi.nl/idlas-nl.

Abstract

Individuals exhibit massive variability in general cognitive skills that affect language processing. This variability is partly developmental. Here, we recruited a large sample of participants (N = 487), ranging from 9 to 90 years of age, and examined the involvement of nonverbal processing speed (assessed using visual and auditory reaction time tasks) and working memory (assessed using forward and backward Digit Span tasks) in a visual world task. Participants saw two objects on the screen and heard a sentence that referred to one of them. In half of the sentences, the target object could be predicted based on verb-selectional restrictions. We observed evidence for anticipatory processing on predictable compared to non-predictable trials. Visual and auditory processing speed had main effects on sentence comprehension and facilitated predictive processing, as evidenced by an interaction. We observed only weak evidence for the involvement of working memory in predictive sentence comprehension. Age had a nonlinear main effect (younger adults responded faster than children and older adults), but it did not differentially modulate predictive and non-predictive processing, nor did it modulate the involvement of processing speed and working memory. Our results contribute to delineating the cognitive skills that are involved in language-vision interactions.

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

Dialogue requires speakers to coordinate. According to the model of dialogue as joint action, interlocutors achieve this coordination by corepresenting their own and each other’s task share in a functionally equivalent manner. In two experiments, we investigated this corepresentation account using an interactive joint naming task in which pairs of participants took turns naming sets of objects on a shared display. Speaker A named the first, or the first and third object, and Speaker B named the second object. In control conditions, Speaker A named one, two, or all three objects and Speaker B remained silent. We recorded the timing of the speakers’ utterances and Speaker A’s eye movements. Interturn pause durations indicated that the speakers effectively coordinated their utterances in time. Speaker A’s speech onset latencies depended on the number of objects they named, but were unaffected by Speaker B’s naming task. This suggests speakers were not fully incorporating their partner’s task into their own speech planning. Moreover, Speaker A’s eye movements indicated that they were much less likely to attend to objects their partner named than to objects they named themselves. When speakers did inspect their partner’s objects, viewing times were too short to suggest that speakers were retrieving these object names as if they were planning to name the objects themselves. These results indicate that speakers prioritized planning their own responses over attending to their interlocutor’s task and suggest that effective coordination can be achieved without full corepresentation of the partner’s task.

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

Multiple layers of visual (and vocal) signals, plus their different onsets and offsets, represent a significant semantic and temporal binding problem during face-to-face conversation.
Despite this complex unification process, multimodal messages appear to be processed faster than unimodal messages.

Multimodal gestalt recognition and multilevel prediction are proposed to play a crucial role in facilitating multimodal language processing.

The basis of the processing mechanisms involved in multimodal language comprehension is hypothesized to be domain general, coopted for communication, and refined with domain-specific characteristics.
A new, situated framework for understanding human language processing is called for that takes into consideration the multilayered, multimodal nature of language and its production and comprehension in conversational interaction requiring fast processing.

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

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

Stroke is common, and its consequent brain damage can cause various cognitive impairments. Associations between where and how much brain lesion damage a patient has suffered, and the particular impairments that injury has caused (lesion-symptom associations) offer potentially compelling insights into how the brain implements cognition.1 A better understanding of those associations can also fill a gap in current stroke medicine by helping us to predict how individual patients might recover from post-stroke impairments.2 Most recent work in this area employs machine learning models trained with data from stroke patients whose mid-to-long-term outcomes are known.2-4 These machine learning models are tested by predicting new outcomes—typically scores on standardized tests of post-stroke impairment—for patients whose data were not used to train the model. Traditionally, these validation results have been shared in peer-reviewed publications describing the model and its training. But recently, and for the first time in this field (as far as we know), one of these pre-trained models has been made public—The Disconnectome Symptom Discoverer model (DSD) which draws its predictors from structural disconnection information inferred from stroke patients’ brain MRI.5

Here, we test the DSD model on wholly independent data, never seen by the model authors, before they published it. Specifically, we test whether its predictive performance is just as accurate as (i.e. not significantly worse than) that reported in the original (Washington University) dataset, when predicting new patients’ outcomes at a similar time post-stroke (∼1 year post-stroke) and also in another independent sample tested later (5+ years) post-stroke. A failure to generalize the DSD model occurs if it performs significantly better in the Washington data than in our data from patients tested at a similar time point (∼1 year post-stroke). In addition, a significant decrease in predictive performance for the more chronic sample would be evidence that lesion-symptom associations differ at ∼1 year post-stroke and >5 years post-stroke.

Abstract

Alcohol use is correlated within spouse-pairs, but it is difficult to disentangle effects of alcohol consumption on mate-selection from social factors or the shared spousal environment. We hypothesised that genetic variants related to alcohol consumption may, via their effect on alcohol behaviour, influence mate selection. Here, we find strong evidence that an individual’s self-reported alcohol consumption and their genotype at rs1229984, a missense variant in ADH1B, are associated with their partner’s self-reported alcohol use. Applying Mendelian randomization, we estimate that a unit increase in an individual’s weekly alcohol consumption increases partner’s alcohol consumption by 0.26 units (95% C.I. 0.15, 0.38; P = 8.20 × 10−6). Furthermore, we find evidence of spousal genotypic concordance for rs1229984, suggesting that spousal concordance for alcohol consumption existed prior to cohabitation. Although the SNP is strongly associated with ancestry, our results suggest some concordance independent of population stratification. Our findings suggest that alcohol behaviour directly influences mate selection.

Abstract

Aim: To determine if nonsyndromic cleft lip with or without cleft palate (nsCL/P) genetic risk variants influence liability to nsCL/P through gene regulation pathways, such as those involving DNA methylation. Materials & methods: nsCL/P genetic summary data and methylation data from four studies were used in conjunction with Mendelian randomization and joint likelihood mapping to investigate potential mediation of nsCL/P genetic variants. Results & conclusion: Evidence was found at VAX1 (10q25.3), LOC146880 (17q23.3) and NTN1 (17p13.1), that liability to nsCL/P and variation in DNA methylation might be driven by the same genetic variant, suggesting that genetic variation at these loci may increase liability to nsCL/P by influencing DNA methylation. Follow-up analyses using different tissues and gene expression data provided further insight into possible biological mechanisms.

Abstract

Common genetic variation has been associated with multiple symptoms in Autism Spectrum Disorder (ASD). However, our knowledge of shared genetic factor structures contributing to this highly heterogeneous neurodevelopmental condition is limited. Here, we developed a structural equation modelling framework to directly model genome-wide covariance across core and non-core ASD phenotypes, studying autistic individuals of European descent using a case-only design. We identified three independent genetic factors most strongly linked to language/cognition, behaviour and motor development, respectively, when studying a population-representative sample (N=5,331). These analyses revealed novel associations. For example, developmental delay in acquiring personal-social skills was inversely related to language, while developmental motor delay was linked to self-injurious behaviour. We largely confirmed the three-factorial structure in independent ASD-simplex families (N=1,946), but uncovered simplex-specific genetic overlap between behaviour and language phenotypes. Thus, the common genetic architecture in ASD is multi-dimensional and contributes, in combination with ascertainment-specific patterns, to phenotypic heterogeneity.