Publications

Abstract

We report on two experiments that investigated the acquisition of the Tagalog symmetrical voice system, a typologically rare feature of Western Austronesian languages in which there are more than one basic transitive construction and no preference for agents to be syntactic subjects. In the experiments, 3-, 5-, and 7-year-old Tagalog-speaking children and adults completed a structural priming task that manipulated voice and word order, with the uniqueness of Tagalog allowing us to tease apart priming of thematic role order from that of syntactic roles. Participants heard a description of a picture showing a transitive action, and were then asked to complete a sentence of an unrelated picture using a voice-marked verb provided by the experimenter. Our results show that children gradually acquire an agent-before-patient preference, instead of having a default mapping of the agent to the first noun position. We also found an earlier mastery of the patient voice verbal and nominal marker configuration (patient is the subject), suggesting that children do not initially map the agent to the subject. Children were primed by thematic role but not syntactic role order, suggesting that they prioritize mapping of the thematic roles to sentence positions.

Abstract

Acoustic allometry is the study of how animal vocalisations reflect their body size. A key aim of this research is to identify outliers to acoustic allometry principles and pinpoint the evolutionary origins of such outliers. A parallel strand of research investigates species capable of vocal learning, the experience-driven ability to produce novel vocal signals through imitation or modification of existing vocalisations. Modification of vocalizations is a common feature found when studying both acoustic allometry and vocal learning. Yet, these two fields have only been investigated separately to date. Here, we review and connect acoustic allometry and vocal learning across mammalian clades, combining perspectives from bioacoustics, anatomy and evolutionary biology. Based on this, we hypothesize that, as a precursor to vocal learning, some species might have evolved the capacity for volitional vocal modulation via sexual selection for ‘dishonest’ signalling. We provide preliminary support for our hypothesis by showing significant associations between allometric deviation and vocal learning in a dataset of 164 mammals. Our work offers a testable framework for future empirical research linking allometric principles with the evolution of vocal learning.

Abstract

Communicating species identity is a key component of many animal signals. However, whether selection for species recognition systematically increases signal diversity during clade radiation remains debated. Here we show that in woodpecker drumming, a rhythmic signal used during mating and territorial defense, the amount of species identity information encoded remained stable during woodpeckers’ radiation. Acoustic analyses and evolutionary reconstructions show interchange among six main drumming types despite strong phylogenetic contingencies, suggesting evolutionary tinkering of drumming structure within a constrained acoustic space. Playback experiments and quantification of species discriminability demonstrate sufficient signal differentiation to support species recognition in local communities. Finally, we only find character displacement in the rare cases where sympatric species are also closely related. Overall, our results illustrate how historical contingencies and ecological interactions can promote conservatism in signals during a clade radiation without impairing the effectiveness of information transfer relevant to inter-specific discrimination.

Abstract

It is a common finding across languages that young children have problems in understanding patient-initial sentences. We used Tagalog, a verb-initial language with a reliable voice-marking system and highly frequent patient voice constructions, to test the predictions of several accounts that have been proposed to explain this difficulty: the frequency account, the Competition Model, and the incremental processing account. Study 1 presents an analysis of Tagalog child-directed speech, which showed that the dominant argument order is agent-before-patient and that morphosyntactic markers are highly valid cues to thematic role assignment. In Study 2, we used a combined self-paced listening and picture verification task to test how Tagalog-speaking adults and 5- and 7-year-old children process reversible transitive sentences. Results showed that adults performed well in all conditions, while children’s accuracy and listening times for the first noun phrase indicated more difficulty in interpreting patient-initial sentences in the agent voice compared to the patient voice. The patient voice advantage is partly explained by both the frequency account and incremental processing account.

Abstract

Phonagnosia, the inability to recognize familiar voices, has been studied in brain-damaged patients but no cases due to developmental problems have been reported. Here we describe the case of KH, a 60-year-old active professional woman who reports that she has always experienced severe voice recognition difficulties. Her hearing abilities are normal, and an MRI scan showed no evidence of brain damage in regions associated with voice or auditory perception. To better understand her condition and to assess models of voice and high-level auditory processing, we tested KH on behavioural tasks measuring voice recognition, recognition of vocal emotions, face recognition, speech perception, and processing of environmental sounds and music. KH was impaired on tasks requiring the recognition of famous voices and the learning and recognition of new voices. In contrast, she performed well on nearly all other tasks. Her case is the first report of developmental phonagnosia, and the results suggest that the recognition of a speaker’s vocal identity depends on separable mechanisms from those used to recognize other information from the voice or non-vocal auditory stimuli.

Abstract

In the context of large and ever growing archives, generating annotation suggestions automatically from textual resources related to the documents to be archived is an interesting option in theory. It could save a lot of work in the time consuming and expensive task of manual annotation and it could help cataloguers attain a higher inter-annotator agreement. However, some questions arise in practice: what is the quality of the automatically produced annotations? How do they compare with manual annotations and with the requirements for annotation that were defined in the archive? If different from the manual annotations, are the automatic annotations wrong? In the CHOICE project, partially hosted at the Netherlands Institute for Sound and Vision, the Dutch public archive for audiovisual broadcasts, we automatically generate annotation suggestions for cataloguers. In this paper, we define three types of evaluation of these annotation suggestions: (1) a classic and strict evaluation measure expressing the overlap between automatically generated keywords and the manual annotations, (2) a loosened evaluation measure for which semantically very similar annotations are also considered as relevant matches, and (3) an in-use evaluation of the usefulness of manual versus automatic annotations in the context of serendipitous browsing. During serendipitous browsing, the annotations (manual or automatic) are used to retrieve and visualize semantically related documents.

Abstract

Processing of recursion has been proposed as the foundation of human linguistic ability. Yet this ability may be shared with other domains, such as the musical or rhythmic domain. Lindenmayer grammars (L-systems) have been proposed as a recursive grammar for use in artificial grammar experiments to test recursive processing abilities, and previous work had shown that participants are able to learn such a grammar using linguistic stimuli (syllables). In the present work, we used two experimental paradigms (a yes/no task and a two-alternative forced choice) to test whether adult participants are able to learn a recursive Lindenmayer grammar composed of drum sounds. After a brief exposure phase, we found that participants at the group level were sensitive to the exposure grammar and capable of distinguishing the grammatical and ungrammatical test strings above chance level in both tasks. While we found evidence of participants’ sensitivity to a very complex L-system grammar in a non-linguistic, potentially musical domain, the results were not robust. We discuss the discrepancy within our results and with the previous literature using L-systems in the linguistic domain. Furthermore, we propose directions for future music cognition research using L-system grammars.

Abstract

The way the human brain represents speech in memory is still unknown. An obvious characteristic of speech is its evolvement over time.
During speech processing, neural oscillations are modulated by the temporal properties of the acoustic speech signal, but also acquired
knowledge on the temporal structure of language influences speech perception-related brain activity. This suggests that speech could be
represented in the temporal domain, a form of representation that the brain also uses to encode autobiographic memories. Empirical
evidence for such a memory code is lacking. We investigated the nature of speech memory representations using direct cortical recordings
in the left perisylvian cortex during delayed sentence reproduction in female and male patients undergoing awake tumor surgery.
Our results reveal that the brain endogenously represents speech in the temporal domain. Temporal pattern similarity analyses revealed
that the phase of frontotemporal low-frequency oscillations, primarily in the beta range, represents sentence identity in working memory.
The positive relationship between beta power during working memory and task performance suggests that working memory
representations benefit from increased phase separation.

Abstract

A key function of attention is to select an appropriate subset of available information by facilitation of attended processes and/or inhibition of irrelevant processing. Functional imaging studies, using positron emission tomography, have during different experimental tasks revealed decreased neuronal activity in areas that process input from unattended sensory modalities. It has been hypothesized that these decreases reflect a selective inhibitory modulation of nonrelevant cortical processing. In this study we addressed this question using a continuous arithmetical task with and without concomitant disturbing auditory input (task-irrelevant speech). During the arithmetical task, irrelevant speech did not affect task-performance but yielded decreased activity in the auditory and midcingulate cortices and increased activity in the left posterior parietal cortex. This pattern of modulation is consistent with a top down inhibitory modulation of a nonattended input to the auditory cortex and a coexisting, attention-based facilitation of taskrelevant processing in higher order cortices. These findings suggest that task-related decreases in cortical activity may be of functional importance in the understanding of both attentional mechanisms and taskrelated information processing.

Abstract

Developmental dyslexia (DD) is one of the most prevalent learning disorders, with high impact on school and psychosocial development and high comorbidity with conditions like attention-deficit hyperactivity disorder (ADHD), depression, and anxiety. DD is characterized by deficits in different cognitive skills, including word reading, spelling, rapid naming, and phonology. To investigate the genetic basis of DD, we conducted a genome-wide association study (GWAS) of these skills within one of the largest studies available, including nine cohorts of reading-impaired and typically developing children of European ancestry (N = 2562–3468). We observed a genome-wide significant effect (p < 1 × 10−8) on rapid automatized naming of letters (RANlet) for variants on 18q12.2, within MIR924HG (micro-RNA 924 host gene; rs17663182 p = 4.73 × 10−9), and a suggestive association on 8q12.3 within NKAIN3 (encoding a cation transporter; rs16928927, p = 2.25 × 10−8). rs17663182 (18q12.2) also showed genome-wide significant multivariate associations with RAN measures (p = 1.15 × 10−8) and with all the cognitive traits tested (p = 3.07 × 10−8), suggesting (relational) pleiotropic effects of this variant. A polygenic risk score (PRS) analysis revealed significant genetic overlaps of some of the DD-related traits with educational attainment (EDUyears) and ADHD. Reading and spelling abilities were positively associated with EDUyears (p ~ [10−5–10−7]) and negatively associated with ADHD PRS (p ~ [10−8−10−17]). This corroborates a long-standing hypothesis on the partly shared genetic etiology of DD and ADHD, at the genome-wide level. Our findings suggest new candidate DD susceptibility genes and provide new insights into the genetics of dyslexia and its comorbities.

Abstract

Regional variation in African-American English (AAE) is especially salient to its speakers involved with hip-hop culture, as hip-hop assigns great importance to regional identity and regional accents are a key means of expressing regional identity. However, little is known about AAE regional variation regarding prosodic rhythm and melody. In hip-hop music, regional variation can also be observed, with different regions’ rap performances being characterized by distinct “flows” (i.e., rhythmic and melodic delivery), an observation which has not been quantitatively investigated yet. This study concerns regional variation in AAE speech and rap, specifically regarding the United States’ East and West Coasts. It investigates how East Coast and West Coast AAE prosody are distinct, how East Coast and West Coast rap flows differ, and whether the two domains follow a similar pattern: more rhythmic and melodic variation on the West Coast compared to the East Coast for both speech and rap. To this end, free speech and rap recordings of 16 prominent African-American members of the East Coast and West Coast hip-hop communities were phonetically analyzed regarding rhythm (e.g., syllable isochrony and musical timing) and melody (i.e., pitch fluctuation) using a combination of existing and novel methodological approaches. The results mostly confirm the hypotheses that East Coast AAE speech and rap are less rhythmically diverse and more monotone than West Coast AAE speech and rap, respectively. They also show that regional variation in AAE prosody and rap flows pattern in similar ways, suggesting a connection between rhythm and melody in language and music.

Abstract

OBJECTIVES: Combining the analysis of family-based samples with unrelated individuals can enhance the power of genetic association studies. Various combined analysis techniques have been recently developed; as yet, there have been no comparisons of their power, or robustness to confounding factors. We investigated empirically the power of up to six combined methods using simulated samples of trios and unrelated cases/controls (TDTCC), trios and unrelated controls (TDTC), and affected sibpairs with parents and unrelated cases/controls (ASPFCC). METHODS: We simulated multiplicative, dominant and recessive models with varying risk parameters in single samples. Additionally, we studied false-positive rates and investigated, if possible, the coverage of the true genetic effect (TDTCC). RESULTS/CONCLUSIONS: Under the TDTCC design, we identified four approaches with equivalent power and false-positive rates. Combined statistics were more powerful than single-sample statistics or a pooled chi(2)-statistic when risk parameters were similar in single samples. Adding parental information to the CC part of the joint likelihood increased the power of generalised logistic regression under the TDTC but not the TDTCC scenario. Formal testing of differences between risk parameters in subsamples was the most sensitive approach to avoid confounding in combined analysis. Non-parametric analysis based on Monte-Carlo testing showed the highest power for ASPFCC samples.

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

The verb has traditionally been characterized as the central element in a sentence. Nevertheless, the exact role of the verb during the actual ongoing comprehension of a sentence as it unfolds in time remains largely unknown. This paper reports the results of two Cross-Modal Lexical Priming (CMLP) experiments detailing the pattern of verb priming during on-line processing of Dutch sentences. Results are contrasted with data from a third CMLP experiment on priming of nouns in similar sentences. It is demonstrated that the meaning of a matrix verb remains active throughout the entire matrix clause, while this is not the case for the meaning of a subject head noun. Activation of the meaning of the verb only dissipates upon encountering a clear signal as to the start of a new clause.

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

Comparative thanatology encompasses the study of death-related responses in non-human animals and aspires to elucidate the evolutionary origins of human behavior in the context of death. Many reports have revealed that humans are not the only species affected by the death of group members. Non-human primates in particular show behaviors such as congregating around the deceased, carrying the corpse for prolonged periods of time (predominantly mothers carrying dead infants), and inspecting the corpse for signs of life. Here, we extend the focus on death-related responses in non-human animals by exploring whether chimpanzees are inclined to console the bereaved: the individual(s) most closely associated with the deceased. We report a case in which a chimpanzee (Pan troglodytes) mother experienced the loss of her fully developed infant (presumed stillborn). Using observational data to compare the group members’ behavior before and after the death, we found that a substantial number of group members selectively increased their affiliative expressions toward the bereaved mother. Moreover, on the day of the death, we observed heightened expressions of species-typical reassurance behaviors toward the bereaved mother. After ruling out several alternative explanations, we propose that many of the chimpanzees consoled the bereaved mother by means of affiliative and selective empathetic expressions.

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

The present article examines the proposal that typology is a major factor guiding transfer selectivity in L3/Ln acquisition. We tested first exposure in L3/Ln using two artificial languages (ALs) lexically based in English and Spanish, focusing on gender agreement between determiners and nouns, and between nouns and adjectives. 50 L1 Spanish-L2 English speakers took part in the experiment. After receiving implicit training in one of the ALs (Mini-Spanish, N = 26; Mini-English, N = 24), gender violations elicited a fronto-lateral negativity in Mini-English in the earliest time window (200–500 ms), although this was not followed by any other differences in subsequent periods. This effect was highly localized, surfacing only in electrodes of the right-anterior region. In contrast, gender violations in Mini-Spanish elicited a broadly distributed positivity in the 300–600 ms time window. While we do not find typical indices of grammatical processing such as the P600 component, we believe that the between-groups differential appearance of the positivity for gender violations in the 300–600 ms time window reflects differential allocation of attentional resources as a function of the ALs’ lexical similarity to English or Spanish. We take these differences in attention to be precursors of the processes involved in transfer source selection in L3/Ln.

Abstract

Humans associate abstract words with physical stimulus dimensions, such as linking upward locations with positive concepts (e.g., happy = up). These associations manifest both via subjective reports of associations and on objective performance metrics. Humans also report subjective associations between colours and abstract words (e.g., joy is linked to yellow). Here we tested whether such associations manifest on objective task performance, even when not task-relevant. Across three experiments, participants were presented with abstract words in physical colours that were either congruent with previously-reported subjective word-colour associations (e.g., victory in red and unhappy in blue), or were incongruent (e.g., victory in blue and unhappy in red). In Experiment 1, participants' task was to identify the valence of words. This congruency manipulation systematically affected objective task performance. In Experiment 2, participants completed two blocks, a valence-identification and a colour-identification task block. Both tasks produced congruency effects on performance, however, the results of the colour identification block could have reflected learning effects (i.e., associating the more common congruent colour with the word). This issue was rectified in Experiment 3, whereby participants completed the same two tasks as Experiment 2, but now matched congruent and incongruent pairs were used for both tasks. Again, both tasks produced reliable congruency effects. Item analyses in each experiment revealed that these effects demonstrated a degree of item specificity. Overall, there was clear evidence that at least some abstract word-colour pairings can systematically affect behaviour.

Abstract

Background: While persons with aphasia (PwA) are often dichotomised as fluent or nonfluent, agreement that fluency is not an all-or-nothing construct has led to the use of continuous variables as a way to quantify fluency, such as multi-dimensional rating scales, speech rate, and utterance length. Though these measures are often used in research, they provide little information about the underlying fluency deficit.
Aim: The aim of the study was to identify how well commonly used continuous measures of fluency capture variability in spontaneous speech variables at lexical, grammatical, and speech production levels. Methods & Procedures: Speech samples of 254 English-speaking PwA from the AphasiaBank database were analyzed to examine the distributions of four continuous measures of fluency: the WAB-R fluency scale, utterance length, retracing, and speech rate. Linear regression was used to identify spontaneous speech predictors contributing to each fluency outcome measure.
Outcomes & Results: All the outcome measures reflected the influence of multiple underlying dimensions, although the predictors varied. The WAB-R fluency scale, speech rate, and retracing were influenced by measures of grammatical competence, lexical retrieval, and speech production, whereas utterance length was influenced only by measures of grammatical competence and lexical retrieval. The strongest predictor of WAB-R fluency was aphasia severity, whereas the strongest predictor for all other fluency proxy measures was grammatical complexity.
Conclusions: Continuous measures allow a variety of ways to objectively quantify speech fluency; however, they reflect superficial manifestations of fluency that may be affected by multiple underlying deficits. Furthermore, the deficits underlying different measures vary, which may reduce the reliability of fluency diagnoses. Capturing these differences at the individual level is critical to accurate diagnosis and appropriately targeted therapy.

Abstract

Our aim in the present study is to measure neural correlates during spontaneous interactive sentence production. We present a novel approach using the word-by-word technique from improvisational theatre, in which two speakers jointly produce one sentence. This paradigm allows the assessment of behavioural aspects, such as turn-times, and electrophysiological responses, such as event-related-potentials (ERPs). Twenty-five participants constructed a cued but spontaneous four-word German sentence together with a confederate, taking turns for each word of the sentence. In 30% of the trials, the confederate uttered an unexpected gender-marked article. To complete the sentence in a meaningful way, the participant had to detect the violation and retrieve and utter a new fitting response. We found significant increases in response times after unexpected words and – despite allowing unscripted language production and naturally varying speech material – successfully detected significant N400 and P600 ERP effects for the unexpected word. The N400 EEG activity further significantly predicted the response time of the subsequent turn. Our results show that combining behavioural and neuroscientific measures of verbal interactions while retaining sufficient experimental control is possible, and that this combination provides promising insights into the mechanisms of spontaneous spoken dialogue.

Abstract

The aim of this study was to investigate whether early-English education benefits the perception
of English phonetic contrasts that are known to be perceptually confusable for Dutch
native speakers, comparing Dutch pupils who were enrolled in an early-English programme
at school from the age of four with pupils in a mainstream programme with English instruction
from the age of 11, and English-Dutch early bilingual children. Children were 4-5-yearolds
(start of primary school), 8-9-year-olds, or 11-12-year-olds (end of primary school).
Children were tested on four contrasts that varied in difficulty: /b/-/s/ (easy), /k/-/ɡ/ (intermediate),
/f/-/θ/ (difficult), /ε/-/æ/ (very difficult). Bilingual children outperformed the two other
groups on all contrasts except /b/-/s/. Early-English pupils did not outperform mainstream
pupils on any of the contrasts. This shows that early-English education as it is currently
implemented is not beneficial for pupils’ perception of non-native contrasts.

Abstract

Learning to recognize the contrasts of a language-specific phonemic repertoire can be viewed as forming categories in a multidimensional psychophysical space. Research on the learning of distributionally defined visual categories has shown that categories defined over I dimension are easy to learn and that learning multidimensional categories is more difficult but tractable under specific task conditions. In 2 experiments, adult participants learned either a unidimensional ora multidimensional category distinction with or without supervision (feedback) during learning. The unidimensional distinctions were readily learned and supervision proved beneficial, especially in maintaining category learning beyond the learning phase. Learning the multidimensional category distinction proved to be much more difficult and supervision was not nearly as beneficial as with unidimensionally defined categories. Maintaining a learned multidimensional category distinction was only possible when the distributional information (hat identified the categories remained present throughout the testing phase. We conclude that listeners are sensitive to both trial-by-trial feedback and the distributional information in the stimuli. Even given limited exposure, listeners learned to use 2 relevant dimensions. albeit with considerable difficulty.

Abstract

In recent years, the influence of alpha (7–13 Hz) phase on visual processing has received a lot of attention. Magneto‐/encephalography (M/EEG) studies showed that alpha phase indexes visual excitability and task performance. Studies with transcranial alternating current stimulation (tACS) aim to modulate oscillations and causally impact task performance. Here, we applied right occipital tACS (O2 location) to assess the functional role of alpha phase in a series of experiments. We presented visual stimuli at different pre‐determined, experimentally controlled, phases of the entraining tACS signal, hypothesizing that this should result in an oscillatory pattern of visual performance in specifically left hemifield detection tasks. In experiment 1, we applied 10 Hz tACS and used separate psychophysical staircases for six equidistant tACS‐phase conditions, obtaining contrast thresholds for detection of visual gratings in left or right hemifield. In experiments 2 and 3, tACS was at EEG‐based individual peak alpha frequency. In experiment 2, we measured detection rates for gratings with (pseudo‐)fixed contrast. In experiment 3, participants detected brief luminance changes in a custom‐built LED device, at eight equidistant alpha phases. In none of the experiments did the primary outcome measure over phase conditions consistently reflect a one‐cycle sinusoid. However, post hoc analyses of reaction times (RT) suggested that tACS alpha phase did modulate RT for specifically left hemifield targets in both experiments 1 and 2 (not measured in experiment 3). This observation requires future confirmation, but is in line with the idea that alpha phase causally gates visual inputs through cortical excitability modulation.

Abstract

Prolectin, a previously undescribed glycan-binding receptor, has been identified by re-screening of the human genome for genes encoding proteins containing potential C-type carbohydrate-recognition domains. Glycan array analysis revealed that the carbohydrate-recognition domain in the extracellular domain of the receptor binds glycans with terminal α-linked mannose or fucose residues. Prolectin expressed in fibroblasts is found at the cell surface, but unlike many glycan-binding receptors it does not mediate endocytosis of a neoglycoprotein ligand. However, compared with other known glycan-binding receptors, the receptor contains an unusually large intracellular domain that consists of multiple sequence motifs, including phosphorylated tyrosine residues, that allow it to interact with signaling molecules such as Grb2. Immunohistochemistry has been used to demonstrate that prolectin is expressed on a specialized population of proliferating B cells in germinal centers. Thus, this novel receptor has the potential to function in carbohydrate-mediated communication between cells in the germinal center.

Abstract

The cerebral cortex underlies our complex cognitive capabilities, yet little is known about the specific genetic loci that influence human cortical structure. To identify genetic variants that affect cortical structure, we conducted a genome-wide association meta-analysis of brain magnetic resonance imaging data from 51,665 individuals. We analyzed the surface area and average thickness of the whole cortex and 34 regions with known functional specializations. We identified 199 significant loci and found significant enrichment for loci influencing total surface area within regulatory elements that are active during prenatal cortical development, supporting the radial unit hypothesis. Loci that affect regional surface area cluster near genes in Wnt signaling pathways, which influence progenitor expansion and areal identity. Variation in cortical structure is genetically correlated with cognitive function, Parkinson’s disease, insomnia, depression, neuroticism, and attention deficit hyperactivity disorder.

Abstract

Languages, like molecules, document evolutionary history. Darwin(1) observed that evolutionary change in languages greatly resembled the processes of biological evolution: inheritance from a common ancestor and convergent evolution operate in both. Despite many suggestions(2-4), few attempts have been made to apply the phylogenetic methods used in biology to linguistic data. Here we report a parsimony analysis of a large language data set. We use this analysis to test competing hypotheses - the "express-train''(5) and the "entangled-bank''(6,7) models - for the colonization of the Pacific by Austronesian-speaking peoples. The parsimony analysis of a matrix of 77 Austronesian languages with 5,185 lexical items produced a single most-parsimonious tree. The express-train model was converted into an ordered geographical character and mapped onto the language tree. We found that the topology of the language tree was highly compatible with the express-train model.

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

To study the time course of sentence formulation, we monitored the eye movements of speakers as they described simple events. The similarity between speakers' initial eye movements and those of observers performing a nonverbal event-comprehension task suggested that response-relevant information was rapidly extracted from scenes, allowing speakers to select grammatical subjects based on comprehended events rather than salience. When speaking extemporaneously, speakers began fixating pictured elements less than a second before naming them within their descriptions, a finding consistent with incremental lexical encoding. Eye movements anticipated the order of mention despite changes in picture orientation, in who-did-what-to-whom, and in sentence structure. The results support Wundt's theory of sentence production.

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 goal of this task is to investigate cross-cultural emotion categories in language and thought. This entry is designed to provide researchers with some guidelines to describe the emotional repertoire of a community from an emic perspective. The first objective is to offer ethnographic tools and a questionnaire in order to understand the semantics of emotional terms and the local conception of emotions. The second objective is to identify the local display rules of emotions in communicative interactions.

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

A key strength of connectionist modelling is its ability to simulate both intact cognition and the behavioural effects of neural damage. We survey the literature, showing that models have been damaged in a variety of ways, e.g. by removing connections, by adding noise to connection weights, by scaling weights, by removing units and by adding noise to unit activations. While these different implementations of damage have often been assumed to be behaviourally equivalent, some theorists have made aetiological claims that rest on nonequivalence. They suggest that related deficits with different aetiologies might be accounted for by different forms of damage within a single model. We present two case studies that explore the effects of different forms of damage in two influential connectionist models, each of which has been applied to explain neuropsychological deficits. Our results indicate that the effect of simulated damage can indeed be sensitive to the way in which damage is implemented, particularly when the environment comprises subsets of items that differ in their statistical properties, but such effects are sensitive to relatively subtle aspects of the model’s training environment. We argue that, as a consequence, substantial methodological care is required if aetiological claims about simulated neural damage are to be justified, and conclude more generally that implementation assumptions, including those concerning simulated damage, must be fully explored when evaluating models of neurological deficits, both to avoid over-extending the explanatory power of specific implementations and to ensure that reported results are replicable.

Abstract

There is growing evidence that addressees in interaction integrate the semantic information conveyed by speakers’ gestures. Little is known, however, about whether and how addressees’ attention to gestures and the integration of gestural information can be modulated. This study examines the influence of a social factor (speakers’ gaze to their own gestures), and two physical factors (the gesture’s location in gesture space and gestural holds) on addressees’ overt visual attention to gestures (direct fixations of gestures) and their uptake of gestural information. It also examines the relationship between gaze and uptake. The results indicate that addressees’ overt visual attention to gestures is affected both by speakers’ gaze and holds but for different reasons, whereas location in space plays no role. Addressees’ uptake of gesture information is only influenced by speakers’ gaze. There is little evidence of a direct relationship between addressees’ direct fixations of gestures and their uptake.

Abstract

This paper argues that speech-associated gestures can usefully inform studies exploring development of meaning in first and second language acquisition. The example domain is caused motion or placement meaning (putting a cup on a table) where acquisition problems have been observed and where adult native gesture use reflects crosslinguistically different placement verb semantics. Against this background, the paper summarises three studies examining the development of semantic representations in Dutch children acquiring Dutch, and adult learners’ acquiring Dutch and French placement verbs. Overall, gestures change systematically with semantic development both in children and adults and (1) reveal what semantic elements are included in current semantic representations, whether target-like or not, and (2) highlight developmental shifts in those representations. There is little evidence that gestures chiefly act as a support channel. Instead, the data support the theoretical notion that speech and gesture form an integrated system, opening new possibilities for studying the processes of acquisition.

Abstract

This study examines to what extent English speakers of L2 Dutch reconstruct the meanings of placement verbs when moving from a general L1 verb of caused motion (put) to two specific caused posture verbs (zetten/leggen ‘set/lay’) in the L2 and whether the existence of low-frequency cognate forms in the L1 (set/lay) alleviates the reconstruction problem. Evidence from speech and gesture indicates that English speakers have difficulties with the specific verbs in L2 Dutch, initially looking for means to express general caused motion in L1-like fashion through over-generalisation. The gesture data further show that targetlike forms are often used to convey L1-like meaning. However, the differentiated use of zetten for vertical placement and dummy verbs (gaan ‘go’ and doen ‘do’) and intransitive posture verbs (zitten/staan/liggen ‘sit, stand, lie’) for horizontal placement, and a positive correlation between appropriate verb use and target-like gesturing suggest a beginning sensitivity to the semantic parameters of the L2 verbs and possible reconstruction.

Abstract

The aim of this chapter is to provide researchers with a tool kit of semi-experimental and experimental techniques for studying code-switching. It presents an overview of the current off-line and on-line research techniques, ranging from analyses of published bilingual texts of spontaneous conversations, to tightly controlled experiments. A multi-task approach used for studying code-switched sentence production in Papiamento-Dutch bilinguals is also exemplified.

Abstract

Gestures, the symbolic movements speakers perform while they speak, are systematically related to speech and language in non-trivial ways. This chapter presents an overview of what gestures can and cannot tell us about the monolingual and the bilingual mental lexicon. Gesture analysis opens for a broader view of the mental lexicon, targeting the interface between conceptual, semantic and syntactic aspects of event construal, and offers new possibilities for examining how languages co-exist and interact in bilinguals beyond the level of surface forms. The first section of this chapter gives a brief introduction to gesture studies and outlines the current views on the relationship between gesture, speech, and language. The second section targets the key questions for the study of the monolingual and bilingual lexicon, and illustrates the methods employed for addressing these questions. It further exemplifies systematic cross-linguistic patterns in gestural behaviour in monolingual and bilingual contexts. The final section discusses some implications of an expanded view of the multilingual lexicon that includes gesture, and outlines directions for future inquiry.

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

What is the long‐term trajectory of semantic memory deficits in patients who have suffered structural brain damage? Memory is, per definition, a changing faculty. The traditional view is that after an initial recovery period, the mature human brain has little capacity to repair or reorganize. More recently, it has been suggested that the central nervous system may be more plastic with the ability to change in neural structure, connectivity, and function. The latter observations are, however, largely based on normal learning in healthy subjects. Here, we report a patient who suffered bilateral ventro‐medial damage after presumed herpes encephalitis in 1971. He was seen regularly in the eighties, and we recently had the opportunity to re‐assess his semantic memory deficits. On semantic category fluency, he showed a very clear category‐specific deficit performing better that control data on non‐living categories and significantly worse on living items. Recent testing showed that his impairments have remained unchanged for more than 40 years. We suggest cautiousness when extrapolating the concept of brain plasticity, as observed during normal learning, to plasticity in the context of structural brain damage.

Abstract

In this study, event-related brain potential ffects of speech processing are obtained and compared to similar effects in sentence reading. In two experiments sentences were presented that contained three different types of grammatical violations. In one experiment sentences were presented word by word at a rate of four words per second. The grammatical violations elicited a Syntactic Positive Shift (P600/SPS), 500 ms after the onset of the word that rendered the sentence ungrammatical. The P600/SPS consisted of two phases, an early phase with a relatively equal anterior-posterior distribution and a later phase with a strong posterior distribution. We interpret the first phase as an indication of structural integration complexity, and the second phase as an indication of failing parsing operations and/or an attempt at reanalysis. In the second experiment the same syntactic violations were presented in sentences spoken at a normal rate and with normal intonation. These violations elicited a P600/SPS with the same onset as was observed for the reading of these sentences. In addition two of the three violations showed a preceding frontal negativity, most clearly over the left hemisphere.

Abstract

In this study, event-related brain potential effects of speech processing are obtained and compared to similar effects insentence reading. In two experiments spoken sentences were presented with semantic violations in sentence-signal or mid-sentence positions. For these violations N400 effects were obtained that were very similar to N400 effects obtained in reading. However, the N400 effects in speech were preceded by an earlier negativity (N250). This negativity is not commonly observed with written input. The early effect is explained as a manifestation of a mismatch between the word forms expected on the basis of the context, and the actual cohort of activated word candidates that is generated on the basis of the speech signal.

Abstract

This contribution focuses on the neural infrastructure for parsing and syntactic encoding. From an anatomical point of view, it is argued that Broca's area is an ill-conceived notion. Functionally, Broca's area and adjacent cortex (together Broca's complex) are relevant for language, but not exclusively for this domain of cognition. Its role can be characterized as providing the necessary infrastructure for unification (syntactic and semantic). A general proposal, but with required level of computational detail, is discussed to account for the distribution of labor between different components of the language network in the brain.Arguments are provided for the immediacy principle, which denies a privileged status for syntax in sentence processing. The temporal profile of event-related brain potential (ERP) is suggested to require predictive processing. Finally, since, next to speed, diversity is a hallmark of human languages, the language readiness of the brain might not depend on a universal, dedicated neural machinery for syntax, but rather on a shaping of the neural infrastructure of more general cognitive systems (e.g., memory, unification) in a direction that made it optimally suited for the purpose of communication through language.

Abstract

Language and communication are about the exchange of meaning. A key feature of understanding and producing language is the construction of complex meaning from more elementary semantic building blocks. The functional characteristics of this semantic unification process are revealed by studies using event related brain potentials. These studies have found that word meaning is assembled into compound meaning in not more than 500 ms. World knowledge, information about the speaker, co-occurring visual input and discourse all have an immediate impact on semantic unification, and trigger similar electrophysiological responses as sentence-internal semantic information. Neuroimaging studies show that a network of brain areas, including the left inferior frontal gyrus, the left superior/middle temporal cortex, the left inferior parietal cortex and, to a lesser extent their right hemisphere homologues are recruited to perform semantic unification.

Abstract

How does intention to speak become the action of speaking? It involves the generation of a preverbal message that is tailored to the requirements of a particular language, and through a series of steps, the message is transformed into a linear sequence of speech sounds (1, 2). These steps include retrieving different kinds of information from memory (semantic, syntactic, and phonological), and combining them into larger structures, a process called unification. Despite general agreement about the steps that connect intention to articulation, there is no consensus about their temporal profile or the role of feedback from later steps (3, 4). In addition, since the discovery by the French physician Pierre Paul Broca (in 1865) of the role of the left inferior frontal cortex in speaking, relatively little progress has been made in understanding the neural infrastructure that supports speech production (5). One reason is that the characteristics of natural language are uniquely human, and thus the neurobiology of language lacks an adequate animal model. But on page 445 of this issue, Sahin et al. (6) demonstrate, by recording neuronal activity in the human brain, that different kinds of linguistic information are indeed sequentially processed within Broca's area.

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

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

Children’s songs are a great source for linguistic learning. Here we explore whether children can acquire novel words in a second language by playing a game featuring children’s songs in a playhouse. The playhouse is designed by the Noplica foundation (www.noplica.nl) to advance language learning through unsupervised play. We present data from three experiments that serve to scientifically proof the functionality of one game of the playhouse: the Energy Center. For this game, children move three hand-bikes mounted on a panel within the playhouse. Once the children cycle, a song starts playing that is accompanied by musical instruments. In our experiments, children executed a picture-selection task to evaluate whether they acquired new vocabulary from the songs presented during the game. Two of our experiments were run in the field, one at a Dutch and one at an Indian pre-school. The third experiment features data from a more controlled laboratory setting. Our results partly confirm that the Energy Center is a successful means to support vocabulary acquisition in a second language. More research with larger sample sizes and longer access to the Energy Center is needed to evaluate the overall functionality of the game. Based on informal observations at our test sites, however, we are certain that children do pick up linguistic content from the songs during play, as many of the children repeat words and phrases from the songs they heard. We will pick up upon these promising observations during future studies.

Abstract

Infants exploit acoustic boundaries to perceptually organize phrases in speech. This prosodic parsing ability is well‐attested and is a cornerstone to the development of speech perception and grammar. However, infants also receive linguistic input in child songs. This study provides evidence that infants parse songs into meaningful phrasal units and replicates previous research for speech. Six‐month‐old Dutch infants (n = 80) were tested in the song or speech modality in the head‐turn preference procedure. First, infants were familiarized to two versions of the same word sequence: One version represented a well‐formed unit, and the other contained a phrase boundary halfway through. At test, infants were presented two passages, each containing one version of the familiarized sequence. The results for speech replicated the previously observed preference for the passage containing the well‐formed sequence, but only in a more fine‐grained analysis. The preference for well‐formed phrases was also observed in the song modality, indicating that infants recognize phrase structure in song. There were acoustic differences between stimuli of the current and previous studies, suggesting that infants are flexible in their processing of boundary cues while also providing a possible explanation for differences in effect sizes.

Abstract

This chapter aims to provide an updated list of all Bantu languages known at present and to provide individual pointers to further information on the inventory. The area division has some correlation with what are perceived genealogical relations between Bantu languages, but they are not defined as such and do not change whenever there is an update in our understanding of genealogical relations. Given the popularity of Guthrie codes in Bantu linguistics, our listing also features a complete mapping to Guthrie codes. The language inventory listed excludes sign languages used in the Bantu area, speech registers, pidgins, drummed/whistled languages and urban youth languages. Pointers to such languages in the Bantu area are included in the continent-wide overview in Hammarstrom. The most important alternative names, subvarieties and spelling variants are given for each language, though such lists are necessarily incomplete and reflect some degree of arbitrary selection.

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

Two experiments were carried out to examine the syllable affiliation of intervocalic consonant clusters and their effects on speech segmentation in two different languages. In a syllable reversal task, Slovak and German speakers divided bisyllabic non-words that were presented aurally into two parts, starting with the second syllable. Following the maximal onset principle, intervocalic consonants should be maximally assigned to the onset of the following syllable in conformity with language-specific restrictions, e.g., /du.gru/, /zu.kro:/ (dot indicates a syllable boundary). According to German phonology, syllables require branching rhymes (hence, /zuk.ro:/). In Slovak, both /du.gru/ and /dug.ru/ are possible syllabifications. Experiment 1 showed that German speakers more often closed the first syllable (/zuk.ro:/), following the requirement for a branching rhyme. In Experiment 2, Slovak speakers showed no clear preference; the first syllable was either closed (/dug.ru/) or open (/du.gru/). Correlation analyses on previously conducted word-spotting studies (Hanulíková, in press, 2008) suggest that speech segmentation is unaffected by these syllabification preferences.

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

Recognizing relational similarity relies on the ability to understand that defining object properties might not lie in the objects individually, but in the relations of the properties of various object to each other. This aptitude is highly relevant for many important human skills such as language, reasoning, categorization and understanding analogy and metaphor. In the current study, we investigated the ability to recognize relational similarities by testing five species of great apes, including human children in a spatial task. We found that all species performed better if related elements are connected by logico-causal as opposed to non-causal relations. Further, we find that only children above 4 years of age, bonobos and chimpanzees, unlike younger children, gorillas and orangutans display some mastery of reasoning by non-causal relational similarity. We conclude that recognizing relational similarity is not in its entirety unique to the human species. The lack of a capability for language does not prohibit recognition of simple relational similarities. The data are discussed in the light of the phylogenetic tree of relatedness of the great apes.

Abstract

There has been considerable controversy over the existence of cognitive differences across human cultures: some claim that human cognition is essentially universal [1,2], others that it reflects cultural specificities [3,4]. One domain of interest has been spatial cognition [5,6]. Despite the global universality of physical space, cultures vary as to how space is coded in their language. Some, for example, do not use egocentric ‘left, right, front, back’ constructions to code spatial relations, instead using allocentric notions like ‘north, south, east, west’ [4,6]: “The spoon is north of the bowl!” Whether or not spatial cognition also varies across cultures remains a contested question [7,8]. Here we investigate whether memory for movements of one's own body differs between cultures with contrastive strategies for coding spatial relations. Our results show that the ways in which we memorize movements of our own body differ in line with culture-specific preferences for how to conceive of spatial relations.

Abstract

The results of two self-paced reading experiments are reported, which investigated the on-line processing of subject-object ambiguities in Dutch relative clause constructions like Dat is de vrouw die de meisjes heeft/hebben gezien by German advanced second language (L2) learners of Dutch. Native speakers of both Dutch and German have been shown to have a preference for a subject versus an object reading of such temporarily ambiguous sentences, and so we provided an ideal opportunity for the transfer of first language (L1) processing preferences to take place. We also investigated whether the participants' working memory span would affect their processing of the experimental items. The results suggest that processing decisions may be affected by working memory when task demands are high and in this case, the high working memory span learners patterned like the native speakers of lower working memory. However, when reading for comprehension alone, and when only structural information was available to guide parsing decisions, working memory span had no effect on the L2 learners' on-line processing, and this differed from the native speakers' even though the L1 and the L2 are highly comparable.

Abstract

Preregistration, the act of specifying a research plan in advance, is becoming more common in scientific research. Infant researchers contend with unique problems that might make preregistration particularly challenging. Infants are a hard‐to‐reach population, usually yielding small sample sizes, they can only complete a limited number of trials, and they can be excluded based on hard‐to‐predict complications (e.g., parental interference, fussiness). In addition, as effects themselves potentially change with age and population, it is hard to calculate an a priori effect size. At the same time, these very factors make preregistration in infant studies a valuable tool. A priori examination of the planned study, including the hypotheses, sample size, and resulting statistical power, increases the credibility of single studies and adds value to the field. Preregistration might also improve explicit decision making to create better studies. We present an in‐depth discussion of the issues uniquely relevant to infant researchers, and ways to contend with them in preregistration and study planning. We provide recommendations to researchers interested in following current best practices.

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

The present article on executive control addresses the issue of the locus of the Stroop effect by examining neurophysiological components marking conflict monitoring, interference suppression, and conflict resolution. Our goal was to provide an overview of a series of determining neurophysiological findings including neural source reconstruction data on distinct executive control processes and sub-processes involved in the Stroop task. Consistently, a fronto-central N2 component is found to reflect conflict monitoring processes, with its main neural generator being the anterior cingulate cortex (ACC). Then, for cognitive control tasks that involve a linguistic component like the Stroop task, the N2 is followed by a centro-posterior N400 and subsequently a late sustained potential (LSP). The N400 is mainly generated by the ACC and the prefrontal cortex (PFC) and is thought to reflect interference suppression, whereas the LSP plausibly reflects conflict resolution processes. The present overview shows that ERP constitute a reliable methodological tool for tracing with precision the time course of different executive processes and sub-processes involved in experimental tasks involving a cognitive conflict. Future research should shed light on the fine-grained mechanisms of control respectively involved in linguistic and non-linguistic tasks.

Abstract

Speakers and listeners usually interact in larger discourses than single words or even single sentences. The goal of the present study was to identify the neural bases reflecting how the mental representation of the situation denoted in a multi-sentence discourse (situation model) is constructed and shared between speakers and listeners. An fMRI study using a variant of the ambiguous text paradigm was designed. Speakers (n=15) produced ambiguous texts in the scanner and listeners (n=27) subsequently listened to these texts in different states of ambiguity: preceded by a highly informative, intermediately informative or no title at all. Conventional BOLD activation analyses in listeners, as well as inter-subject correlation analyses between the speakers’ and the listeners’ hemodynamic time courses were performed. Critically, only the processing of disambiguated, coherent discourse with an intelligible situation model representation involved (shared) activation in bilateral lateral parietal and medial prefrontal regions. This shared spatiotemporal pattern of brain activation between the speaker and the listener suggests that the process of memory retrieval in medial prefrontal regions and the binding of retrieved information in the lateral parietal cortex constitutes a core mechanism underlying the communication of complex conceptual representations.

Abstract

Visual context facilitates perception, but how this is neurally implemented remains unclear. One example of contextual facilitation is found in reading, where letters are more easily identified when embedded in a word. Bottom-up models explain this word advantage as a post-perceptual decision bias, while top-down models propose that word contexts enhance perception itself. Here, we arbitrate between these accounts by presenting words and nonwords and probing the representational fidelity of individual letters using functional magnetic resonance imaging. In line with top-down models, we find that word contexts enhance letter representations in early visual cortex. Moreover, we observe increased coupling between letter information in visual cortex and brain activity in key areas of the reading network, suggesting these areas may be the source of the enhancement. Our results provide evidence for top-down representational enhancement in word recognition, demonstrating that word contexts can modulate perceptual processing already at the earliest visual regions.

Abstract

Timing is an essential parameter influencing many behaviours. A previous study demonstrated a high sensitivity of a phocid, the harbour seal (Phoca vitulina), in discriminating time intervals. In the present study, we compared the harbour seal’s timing abilities with the timing abilities of an otariid, the South African fur seal (Arctocephalus pusillus pusillus). This comparison seemed essential as phocids and otariids differ in many respects and might, thus, also differ regarding their timing abilities. We determined time difference thresholds for sub- and suprasecond time intervals marked by a white circle on a black background displayed for a specific time interval on a monitor using a staircase method. Contrary to our expectation, the timing abilities of the fur seal and the harbour seal were comparable. Over a broad range of time intervals, 0.8–7 s in the fur seal and 0.8–30 s in the harbour seal, the difference thresholds followed Weber’s law. In this range, both animals could discriminate time intervals differing only by 12 % and 14 % on average. Timing might, thus be a fundamental cue for pinnipeds in general to be used in various contexts, thereby complementing information provided by classical sensory systems. Future studies will help to clarify if timing is indeed involved in foraging decisions or the estimation of travel speed or distance.

Abstract

Polymorphisms in the apolipoprotein E (APOE) gene have been associated with individual differences in cognition, brain structure and brain function. For example, the ε4 allele has been associated with cognitive and brain impairment in old age and increased risk of dementia, while the ε2 allele has been claimed to be neuroprotective. According to the ‘antagonistic pleiotropy’ hypothesis, these polymorphisms have different effects across the lifespan, with ε4, for example, postulated to confer benefits on cognitive and brain functions earlier in life. In this stage 2 of the Registered Report – https://osf.io/bufc4, we report the results from the cognitive and brain measures in the Cambridge Centre for Ageing and Neuroscience cohort (www.cam-can.org). We investigated the antagonistic pleiotropy hypothesis by testing for allele-by-age interactions in approximately 600 people across the adult lifespan (18–88 years), on six outcome variables related to cognition, brain structure and brain function (namely, fluid intelligence, verbal memory, hippocampal grey-matter volume, mean diffusion within white matter and resting-state connectivity measured by both functional magnetic resonance imaging and magnetoencephalography). We found no evidence to support the antagonistic pleiotropy hypothesis. Indeed, Bayes factors supported the null hypothesis in all cases, except for the (linear) interaction between age and possession of the ε4 allele on fluid intelligence, for which the evidence for faster decline in older ages was ambiguous. Overall, these pre-registered analyses question the antagonistic pleiotropy of APOE polymorphisms, at least in healthy adults.

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

We argue, based on a study of brain responses to speech sound differences in Japanese, that memory encoding of functional speech sounds-phonemes-are highly abstract. As an example, we provide evidence for a theory where the consonants/p t k b d g/ are not only made up of symbolic features but are underspecified with respect to voicing or laryngeal features, and that languages differ with respect to which feature value is underspecified. In a previous study we showed that voiced stops are underspecified in English [Hestvik, A., & Durvasula, K. (2016). Neurobiological evidence for voicing underspecification in English. Brain and Language], as shown by asymmetries in Mismatch Negativity responses to /t/ and /d/. In the current study, we test the prediction that the opposite asymmetry should be observed in Japanese, if voiceless stops are underspecified in that language. Our results confirm this prediction. This matches a linguistic architecture where phonemes are highly abstract and do not encode actual physical characteristics of the corresponding speech sounds, but rather different subsets of abstract distinctive features.

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

Objective
Determining the genetic basis of speech disorders provides insight into the neurobiology of
human communication. Despite intensive investigation over the past 2 decades, the etiology of
most speech disorders in children remains unexplained. To test the hypothesis that speech
disorders have a genetic etiology, we performed genetic analysis of children with severe speech
disorder, specifically childhood apraxia of speech (CAS).
Methods
Precise phenotyping together with research genome or exome analysis were performed on
children referred with a primary diagnosis of CAS. Gene coexpression and gene set enrichment
analyses were conducted on high-confidence gene candidates.
Results
Thirty-four probands ascertained for CAS were studied. In 11/34 (32%) probands, we identified
highly plausible pathogenic single nucleotide (n = 10; CDK13, EBF3, GNAO1, GNB1,
DDX3X, MEIS2, POGZ, SETBP1, UPF2, ZNF142) or copy number (n = 1; 5q14.3q21.1 locus)
variants in novel genes or loci for CAS. Testing of parental DNA was available for 9 probands
and confirmed that the variants had arisen de novo. Eight genes encode proteins critical for
regulation of gene transcription, and analyses of transcriptomic data found CAS-implicated
genes were highly coexpressed in the developing human brain.
Conclusion
We identify the likely genetic etiology in 11 patients with CAS and implicate 9 genes for the first
time. We find that CAS is often a sporadic monogenic disorder, and highly genetically heterogeneous.
Highly penetrant variants implicate shared pathways in broad transcriptional
regulation, highlighting the key role of transcriptional regulation in normal speech development.
CAS is a distinctive, socially debilitating clinical disorder, and understanding its
molecular basis is the first step towards identifying precision medicine approaches.

Abstract

Contemporary accounts of anticipatory language processing assume that individuals predict upcoming information at multiple levels of representation. Research investigating language-mediated anticipatory eye gaze typically assumes that linguistic input restricts the domain of subsequent reference (visual target objects). Here, we explored the converse case: Can visual input restrict the dynamics of anticipatory language processing? To this end, we recorded participants’ eye movements as they listened to sentences in which an object was predictable based on the verb’s selectional restrictions (“The man peels a banana”). While listening, participants looked at different types of displays: The target object (banana) was either present or it was absent. On target-absent trials, the displays featured objects that had a similar visual shape as the target object (canoe) or objects that were semantically related to the concepts invoked by the target (monkey). Each trial was presented in a long preview version, where participants saw the displays for approximately 1.78 seconds before the verb was heard (pre-verb condition), and a short preview version, where participants saw the display approximately 1 second after the verb had been heard (post-verb condition), 750 ms prior to the spoken target onset. Participants anticipated the target objects in both conditions. Importantly, robust evidence for predictive looks to objects related to the (absent) target objects in visual shape and semantics was found in the post-verb but not in the pre-verb condition. These results suggest that visual information can restrict language-mediated anticipatory gaze and delineate theoretical accounts of predictive processing in the visual world.

Abstract

Previous studies have shown that during comprehension readers activate words beyond the unfolding sentence. An open question concerns the mechanisms underlying this behavior. One proposal is that readers mentally simulate the described event and activate related words that might be referred to as the discourse further unfolds. Another proposal is that activation between words spreads in an automatic, associative fashion. The empirical support for these proposals is mixed. Therefore, theoretical accounts differ with regard to how much weight they place on the contributions of these sources to sentence comprehension. In the present study, we attempted to assess the contributions of event simulation and lexical associations to discourse reading, using event-related brain potentials (ERPs). Participants read target words, which were preceded by associatively related words either appearing in a coherent discourse event (Experiment 1) or in sentences that did not form a coherent discourse event (Experiment 2). Contextually unexpected target words that were associatively related to the described events elicited a reduced N400 amplitude compared to contextually unexpected target words that were unrelated to the events (Experiment 1). In Experiment 2, a similar but reduced effect was observed. These findings support the notion that during discourse reading event simulation and simple word associations jointly contribute to language comprehension by activating words that are beyond contextually congruent sentence continuations.

Abstract

- * indicates joint first authorship - Lexical access is a core component of word processing. In order to produce or comprehend a word, language users must access word forms in their mental lexicon. However, despite its involvement in both tasks, previous research has often studied lexical access in either production or comprehension alone. Therefore, it is unknown to which extent lexical access processes are shared across both tasks. Picture naming and auditory lexical decision are considered good tools for studying lexical access. Both of them are speeded tasks. Given these commonalities, another open question concerns the involvement of general cognitive abilities (e.g., processing speed) in both linguistic tasks. In the present study, we addressed these questions. We tested a large group of young adults enrolled in academic and vocational courses. Participants completed picture naming and auditory lexical decision tasks as well as a battery of tests assessing non-verbal processing speed, vocabulary, and non-verbal intelligence. Our results suggest that the lexical access processes involved in picture naming and lexical decision are related but less closely than one might have thought. Moreover, reaction times in picture naming and lexical decision depended as least as much on general processing speed as on domain-specific linguistic processes (i.e., lexical access processes).

Abstract

This resource contains data from 112 Dutch adults (18–29 years of age) who completed the Individual Differences in Language Skills test battery that included 33 behavioural tests assessing language skills and domain-general cognitive skills likely involved in language tasks. The battery included tests measuring linguistic experience (e.g. vocabulary size, prescriptive grammar knowledge), general cognitive skills (e.g. working memory, non-verbal intelligence) and linguistic processing skills (word production/comprehension, sentence production/comprehension). Testing was done in a lab-based setting resulting in high quality data due to tight monitoring of the experimental protocol and to the use of software and hardware that were optimized for behavioural testing. Each participant completed the battery twice (i.e., two test days of four hours each). We provide the raw data from all tests on both days as well as pre-processed data that were used to calculate various reliability measures (including internal consistency and test-retest reliability). We encourage other researchers to use this resource for conducting exploratory and/or targeted analyses of individual differences in language and general cognitive skills.

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

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

Bats use a large repertoire of calls for social communication, which are often characterized by temporal amplitude and frequency modulations. As bats are considered to be among the few mammalian species capable of vocal learning, the perception of temporal sound modulations should be crucial for juvenile bats to develop social communication abilities. However, the post-natal development of auditory processing of temporal modulations has not been investigated in bats, so far. Here we use the minimally invasive technique of recording auditory brainstem responses to measure the envelope following response (EFR) to sinusoidally amplitude modulated noise (range of modulation frequencies: 11–130 Hz) in three juveniles (p8-p72) of the bat, Phyllostomus discolor. In two out of three animals, we show that although amplitude modulation processing is basically developed at p8, EFRs maturated further over a period of about two weeks until p33. Maturation of the EFR generally took longer for higher modulation frequencies (87–130 Hz) than for lower modulation frequencies (11–58 Hz).

Abstract

Speakers often use gesture to demonstrate how to perform actions—for example, they might show how to open the top of a jar by making a twisting motion above the jar. Yet it is unclear whether listeners learn as much from seeing such gestures as they learn from seeing actions that physically change the position of objects (i.e., actually opening the jar). Here, we examined participants' implicit and explicit understanding about a series of movements that demonstrated how to move a set of objects. The movements were either shown with actions that physically relocated each object or with gestures that represented the relocation without touching the objects. Further, the end location that was indicated for each object covaried with whether the object was grasped with one or two hands. We found that memory for the end location of each object was better after seeing the physical relocation of the objects, that is, after seeing action, than after seeing gesture, regardless of whether speech was absent (Experiment 1) or present (Experiment 2). However, gesture and action built similar implicit understanding of how a particular handgrasp corresponded with a particular end location. Although gestures miss the benefit of showing the end state of objects that have been acted upon, the data show that gestures are as good as action in building knowledge of how to perform an action.

Abstract

Dutch-learning and English-learning 9-month-olds were tested, using the Headturn Preference Procedure, for their ability to segment Dutch words with strong/weak stress patterns from fluent Dutch speech. This prosodic pattern is highly typical for words of both languages. The infants were familiarized with pairs of words and then tested on four passages, two that included the familiarized words and two that did not. Both the Dutch- and the English-learning infants gave evidence of segmenting the targets from the passages, to an equivalent degree. Thus, English-learning infants are able to extract words from fluent speech in a language that is phonetically different from English. We discuss the possibility that this cross-language segmentation ability is aided by the similarity of the typical rhythmic structure of Dutch and English words.

Abstract

Many women diagnosed with a major depression continue or initiate antidepressant treatment during pregnancy. Both maternal stress and selective serotonin inhibitor (SSRI) antidepressant treatment during pregnancy have been associated with changes in offspring behavior, including increased anxiety and depressive-like behavior. Our aim was to investigate the effects of the SSRI fluoxetine (FLX), with and without the presence of a maternal depression, on affective behavior in male and female rat offspring. As reduced serotonin transporter (SERT) availability has been associated with altered behavioral outcome, both offspring with normal (SERT+/+) and reduced (SERT+/−) SERT expression were included. For our animal model of maternal depression, SERT+/− dams exposed to early life stress were used. Perinatal FLX treatment and early life stress in dams (ELSD) had sex- and genotype-specific effects on affective behavior in the offspring. In female offspring, perinatal FLX exposure interacted with SERT genotype to increase anxiety and depressive-like behavior in SERT+/+, but not SERT+/−, females. In male offspring, ELSD reduced anxiety and interacted with SERT genotype to decrease depressive-like behavior in SERT+/−, but not SERT+/+, males. Altogether, SERT+/+ female offspring appear to be more sensitive than SERT+/− females to the effects of perinatal FLX exposure, while SERT+/− male offspring appear more sensitive than SERT+/+ males to the effects of ELSD on affective behavior. Our data suggest a role for offspring SERT genotype and sex in FLX and ELSD-induced effects on affective behavior, thereby contributing to our understanding of the effects of perinatal SSRI treatment on offspring behavior later in life.

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

It has been hypothesised that nonsyndromic cleft lip/palate (nsCL/P) and cancer may share aetiological risk factors. Population studies have found inconsistent evidence for increased incidence of cancer in nsCL/P cases, but several genes (e.g.,CDH1,AXIN2) have been implicated in the aetiologies of both phenotypes. We aimed to evaluate shared genetic aetiology between nsCL/P and oral cavity/oropharyngeal cancers (OC/OPC), which affect similar anatomical regions. Using a primary sample of 5,048 OC/OPC cases and 5,450 controls of European ancestry and a replication sample of 750 cases and 336,319 controls from UK Biobank, we estimate genetic overlap using nsCL/P polygenic risk scores (PRS) with Mendelian randomization analyses performed to evaluate potential causal mechanisms. In the primary sample, we found strong evidence for an association between a nsCL/P PRS and increased odds of OC/OPC (per standard deviation increase in score, odds ratio [OR]: 1.09; 95% confidence interval [CI]: 1.04, 1.13;p = .000053). Although confidence intervals overlapped with the primary estimate, we did not find confirmatory evidence of an association between the PRS and OC/OPC in UK Biobank (OR 1.02; 95% CI: 0.95, 1.10;p = .55). Mendelian randomization analyses provided evidence that major nsCL/P risk variants are unlikely to influence OC/OPC. Our findings suggest possible shared genetic influences on nsCL/P and OC/OPC.

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

Strong right-hand preference on the population level is a uniquely human feature, although its neural basis is still not clearly defined. Recent behavioural and neuroimaging literature suggests that hand preference may be related to the orchestrated function and size of fronto-parietal white matter tracts bilaterally. Lesions to these tracts induced during tumour resection may provide an opportunity to test this hypothesis. In the present study, a cohort of seventeen neurosurgical patients with left hemisphere brain tumours were recruited to investigate whether resection of certain white matter tracts affects the choice of hand selected for the execution of a goal-directed task (assembly of jigsaw puzzles). Patients performed the puzzles, but also tests for basic motor ability, selective attention and visuo-constructional ability, preoperatively and one month after surgery. An atlas-based disconnectome analysis was conducted to evaluate whether resection of tracts was significantly associated with changes in hand selection. Diffusion tractography was also used to dissect fronto-parietal tracts (the superior longitudinal fasciculus) and the corticospinal tract. Results showed a shift in hand selection despite the absence of any motor or cognitive deficits, which was significantly associated with frontal and parietal resections rather than other lobes. In particular, the shift in hand selection was significantly associated with the resection of dorsal rather than ventral fronto-parietal white matter connections. Dorsal white matter pathways contribute bilaterally to control of goal-directed hand movements. We show that unilateral lesions, that may unbalance the cooperation of the two hemispheres, can alter the choice of hand selected to accomplish movements.