Publications

Abstract

Development of proficient spoken language skills is disrupted by mutations of the FOXP2 transcription factor. A heterozygous missense mutation in the KE family causes speech apraxia, involving difficulty producing words with complex learned sequences of syllables. Manipulations in songbirds have helped to elucidate the role of this gene in vocal learning, but findings in non-human mammals have been limited or inconclusive. Here we performed a systematic study of ultrasonic vocalizations (USVs) of adult male mice carrying the KE family mutation. Using novel statistical tools, we found that Foxp2 heterozygous mice did not have detectable changes in USV syllable acoustic structure, but produced shorter sequences and did not shift to more complex syntax in social contexts where wildtype animals did. Heterozygous mice also displayed a shift in the position of their rudimentary laryngeal motor cortex layer-5 neurons. Our findings indicate that although mouse USVs are mostly innate, the underlying contributions of FoxP2 to sequencing of vocalizations are conserved with humans.

Abstract

We report on an eye-tracking study that investigated four-year-old Cantonese-speaking children's online processing of subject and object relative clauses (RCs). Children's eye-movements were recorded as they listened to RC structures identifying a unique referent (e.g. “Can you pick up the horse that pushed the pig?”). Two RC types, classifier (CL) and ge3 RCs, were tested in a between-participants design. The two RC types differ in their syntactic analyses and frequency of occurrence, providing an important point of comparison for theories of RC acquisition and processing. A permutation analysis showed that the two structures were processed differently: CL RCs showed a significant object-over-subject advantage, whereas ge3 RCs showed the opposite effect. This study shows that children can have different preferences even for two very similar RC structures within the same language, suggesting that syntactic processing preferences are shaped by the unique features of particular constructions both within and across different linguistic typologies.

Abstract

Objects in the world usually have names at different hierarchical levels (e.g., beagle, dog, animal). This research investigates adults' ability to use cross-situational statistics to simultaneously learn object labels at individual and category levels. The results revealed that adults were able to use co-occurrence information to learn hierarchical labels in contexts where the labels for individual objects and labels for categories were presented in completely separated blocks, in interleaved blocks, or mixed in the same trial. Temporal presentation schedules significantly affected the learning of individual object labels, but not the learning of category labels. Learners' subsequent generalization of category labels indicated sensitivity to the structure of statistical input.

Abstract

Bock et al. (1992) found that the binding of animacy features onto grammatical roles is susceptible to priming in sentence production. Moreover, this effect did not interact with structural priming. This finding supports an account according to which syntactic representations are insensitive to the consistency of animacy-to-structure mapping. This account has contributed greatly to the development of syntactic processing theories in language production. However, this study has never been directly replicated and the few related studies showed mixed results. A meta-analysis of these studies failed to replicate the findings of Bock et al. (1992). Therefore, we conducted a well-powered replication (n = 496) that followed the original study as closely as possible. We found an effect of structural priming and an animacy priming effect, replicating Bock et al.’s findings. In addition, we replicated Bock et al.’s (1992) observed null interaction between structural priming and animacy binding, which suggests that syntactic representations are indeed independent of semantic information about animacy.

Abstract

This study investigates young children’s comprehension of spatial terms in two languages that categorize space strikingly differently. English makes a distinction between actions resulting in containment (put in) versus support or surface attachment (put on), while Korean makes a cross-cutting distinction between tight-fit relations (kkita) versus loose-fit or other contact relations (various verbs). In particular, the Korean verb kkita refers to actions resulting in a tight-fit relation regardless of containment or support. In a preferential looking study we assessed the comprehension of in by 20 English learners and kkita by 10 Korean learners, all between 18 and 23 months. The children viewed pairs of scenes while listening to sentences with and without the target word. The target word led children to gaze at different and language-appropriate aspects of the scenes. We conclude that children are sensitive to language-specific spatial categories by 18–23 months.

Abstract

English and Korean differ in how they lexicalize the components of motionevents. English characteristically conflates Motion with Manner, Cause, or Deixis, and expresses Path separately. Korean, in contrast, conflates Motion with Path and elements of Figure and Ground in transitive clauses for caused Motion, but conflates motion with Deixis and spells out Path and Manner separately in intransitive clauses for spontaneous motion. Children learningEnglish and Korean show sensitivity to language-specific patterns in the way they talk about motion from as early as 17–20 months. For example, learners of English quickly generalize their earliest spatial words — Path particles like up, down, and in — to both spontaneous and caused changes of location and, for up and down, to posture changes, while learners of Korean keep words for spontaneous and caused motion strictly separate and use different words for vertical changes of location and posture changes. These findings challenge the widespread view that children initially map spatial words directly to nonlinguistic spatial concepts, and suggest that they are influenced by the semantic organization of their language virtually from the beginning. We discuss how input and cognition may interact in the early phases of learning to talk about space.

Abstract

Several studies have documented that international adoptees, who in early years have
experienced a change from a language used in their birth country to a new language
in an adoptive country, benefit from the limited early exposure to the birth language
when relearning that language’s sounds later in life. The adoptees’ relearning advantages
have been argued to be conferred by lasting birth-language knowledge obtained from
the early exposure. However, it is also plausible to assume that the advantages may
arise from adoptees’ superior ability to learn language sounds in general, as a result
of their unusual linguistic experience, i.e., exposure to multiple languages in sequence
early in life. If this is the case, then the adoptees’ relearning benefits should generalize
to previously unheard language sounds, rather than be limited to their birth-language
sounds. In the present study, adult Korean adoptees in the Netherlands and matched
Dutch-native controls were trained on identifying a Japanese length distinction to which
they had never been exposed before. The adoptees and Dutch controls did not differ
on any test carried out before, during, or after the training, indicating that observed
adoptee advantages for birth-language relearning do not generalize to novel, previously
unheard language sounds. The finding thus fails to support the suggestion that
birth-language relearning advantages may arise from enhanced ability to learn language
sounds in general conferred by early experience in multiple languages. Rather, our
finding supports the original contention that such advantages involve memory traces
obtained before adoption

Abstract

Lateralization is a fundamental characteristic of many behaviors and the organization of the brain, and atypical lateralization has been suggested to be linked to various brain-related disorders such as autism and schizophrenia. Right-handedness is one of the most prominent markers of human behavioural lateralization, yet its neurobiological basis remains to be determined. Here, we present a large-scale analysis of handedness, as measured by self-reported direction of hand preference, and its variability related to brain structural and functional organization in the UK Biobank (N = 36,024). A multivariate machine learning approach with multi-modalities of brain imaging data was adopted, to reveal how well brain imaging features could predict individual's handedness (i.e., right-handedness vs. non-right-handedness) and further identify the top brain signatures that contributed to the prediction. Overall, the results showed a good prediction performance, with an area under the receiver operating characteristic curve (AUROC) score of up to 0.72, driven largely by resting-state functional measures. Virtual lesion analysis and large-scale decoding analysis suggested that the brain networks with the highest importance in the prediction showed functional relevance to hand movement and several higher-level cognitive functions including language, arithmetic, and social interaction. Genetic analyses of contributions of common DNA polymorphisms to the imaging-derived handedness prediction score showed a significant heritability (h2=7.55%, p <0.001) that was similar to and slightly higher than that for the behavioural measure itself (h2=6.74%, p <0.001). The genetic correlation between the two was high (rg=0.71), suggesting that the imaging-derived score could be used as a surrogate in genetic studies where the behavioural measure is not available. This large-scale study using multimodal brain imaging and multivariate machine learning has shed new light on the neural correlates of human handedness.

Abstract

People spontaneously gesture when they speak (co-speech gestures) and when they solve problems silently (co-thought gestures). In this study, we first explored the relationship between these 2 types of gestures and found that individuals who produced co-thought gestures more frequently also produced co-speech gestures more frequently (Experiments 1 and 2). This suggests that the 2 types of gestures are generated from the same process. We then investigated whether both types of gestures can be generated from the representational use of the action generation process that also generates purposeful actions that have a direct physical impact on the world, such as manipulating an object or locomotion (the action generation hypothesis). To this end, we examined the effect of object affordances on the production of both types of gestures (Experiments 3 and 4). We found that individuals produced co-thought and co-speech gestures more often when the stimulus objects afforded action (objects with a smooth surface) than when they did not (objects with a spiky surface). These results support the action generation hypothesis for representational gestures. However, our findings are incompatible with the hypothesis that co-speech representational gestures are solely generated from the speech production process (the speech production hypothesis).

Abstract

In a semantic priming paradigm, the effects of different levels of processing on the N400 were assessed by changing the task demands. In the lexical decision task, subjects had to discriminate between words and nonwords and in the physical task, subjects had to discriminate between uppercase and lowercase letters. The proportion of related versus unrelated word pairs differed between conditions. A lexicality test on reaction times demonstrated that the physical task was performed nonlexically. Moreover, a semantic priming reaction time effect was obtained only in the lexical decision task. The level of processing clearly affected the event-related potentials. An N400 priming effect was only observed in the lexical decision task. In contrast, in the physical task a P300 effect was observed for either related or unrelated targets, depending on their frequency of occurrence. Taken together, the results indicate that an N400 priming effect is only evoked when the task performance induces the semantic aspects of words to become part of an episodic trace of the stimulus event.

Abstract

Clashen proposes two distinct processing routes, for regularly and irregularly inflected forms, respectively, and thus is apparently making a psychological claim. We argue his position, which embodies a strictly linguistic perspective, does not constitute a psychological processing model.

Abstract

When we talk, we often make hand movements called gestures at the same time. Although just about everyone gestures when they talk, we usually do not even notice the gestures. Our hand gestures play an important role in helping us learn and remember! When we see other people gesturing when they talk—or when we gesture when we talk ourselves—we are more likely to remember the information being talked about than if gestures were not involved. Our hand gestures can even indicate when we are ready to learn new things! In this article, we explain how gestures can help learning. To investigate this, we studied children learning a new mathematical concept called equivalence. We hope that this article will help you notice when you, your friends and family, and your teachers are gesturing, and that it will help you understand how those gestures can help people learn.

Abstract

Speakers design communication for their audience, providing more information in both speech and gesture when their listener is naive to the topic. We test whether the hippocampal declarative memory system contributes to multimodal audience design. The hippocampus, while traditionally linked to episodic and relational memory, has also been linked to the ability to imagine the mental states of others and use language flexibly. We examined the speech and gesture use of four patients with hippocampal amnesia when describing how to complete everyday tasks (e.g., how to tie a shoe) to an imagined child listener and an adult listener. Although patients with amnesia did not increase their total number of words and instructional steps for the child listener, they did produce representational gestures at significantly higher rates for the imagined child compared to the adult listener. They also gestured at similar frequencies to neurotypical peers, suggesting that hand gesture can be a meaningful communicative resource, even in the case of severe declarative memory impairment. We discuss the contributions of multiple memory systems to multimodal audience design and the potential of gesture to act as a window into the social cognitive processes of individuals with neurologic disorders.

Abstract

It has long been recognised that phrases and sentences are organised hierarchically, but many computational models of language treat them as sequences of words without computing constituent structure. Against this background, we conducted two experiments which showed that participants interpret ambiguous noun phrases, such as second blue ball, in terms of their abstract hierarchical structure rather than their linear surface order. When a neural network model was tested on this task, it could simulate such “hierarchical” behaviour. However, when we changed the training data such that they were not entirely unambiguous anymore, the model stopped generalising in a human-like way. It did not systematically generalise to novel items, and when it was trained on ambiguous trials, it strongly favoured the linear interpretation. We argue that these models should be endowed with a bias to make generalisations over hierarchical structure in order to be cognitively adequate models of human language.

Abstract

Recent research has established that cortical activity “tracks” the presentation rate of syntactic phrases in continuous speech, even though phrases are abstract units that do not have direct correlates in the acoustic signal. We investigated whether cortical tracking of phrase structures is modulated by the extent to which these structures compositionally determine meaning. To this end, we recorded electroencephalography (EEG) of 38 native speakers who listened to naturally spoken Dutch stimuli in different conditions, which parametrically modulated the degree to which syntactic structure and lexical semantics determine sentence meaning. Tracking was quantified through mutual information between the EEG data and either the speech envelopes or abstract annotations of syntax, all of which were filtered in the frequency band corresponding to the presentation rate of phrases (1.1–2.1 Hz). Overall, these mutual information analyses showed stronger tracking of phrases in regular sentences than in stimuli whose lexical-syntactic content is reduced, but no consistent differences in tracking between sentences and stimuli that contain a combination of syntactic structure and lexical content. While there were no effects of compositional meaning on the degree of phrase-structure tracking, analyses of event-related potentials elicited by sentence-final words did reveal meaning-induced differences between conditions. Our findings suggest that cortical tracking of structure in sentences indexes the internal generation of this structure, a process that is modulated by the properties of its input, but not by the compositional interpretation of its output.

Abstract

Visual narratives make use of various means to convey referential and co-referential meaning, so comprehenders
must recognize that different depictions across sequential images represent the same character(s). In this study,
we investigated how the order in which different types of panels in visual sequences are presented affects how
the unfolding narrative is comprehended. Participants viewed short comic strips while their electroencephalo-
gram (EEG) was recorded. We analyzed evoked and induced EEG activity elicited by both full panels (showing a
full character) and refiner panels (showing only a zoom of that full panel), and took into account whether they
preceded or followed the panel to which they were co-referentially related (i.e., were cataphoric or anaphoric).
We found that full panels elicited both larger N300 amplitude and increased gamma-band power compared to
refiner panels. Anaphoric panels elicited a sustained negativity compared to cataphoric panels, which appeared
to be sensitive to the referential status of the anaphoric panel. In the time-frequency domain, anaphoric panels
elicited reduced 8–12 Hz alpha power and increased 45–65 Hz gamma-band power compared to cataphoric
panels. These findings are consistent with models in which the processes involved in visual narrative compre-
hension partially overlap with those in language comprehension.

Abstract

Individual alpha frequency (IAF) is a promising electrophysiological marker of interindividual differences in cognitive function. IAF has been linked with trait-like differences in information processing and general intelligence, and provides an empirical basis for the definition of individualized frequency bands. Despite its widespread application, however, there is little consensus on the optimal method for estimating IAF, and many common approaches are prone to bias and inconsistency. Here, we describe an automated strategy for deriving two of the most prevalent IAF estimators in the literature: peak alpha frequency (PAF) and center of gravity (CoG). These indices are calculated from resting-state power spectra that have been smoothed using a Savitzky-Golay filter (SGF). We evaluate the performance characteristics of this analysis procedure in both empirical and simulated EEG data sets. Applying the SGF technique to resting-state data from n = 63 healthy adults furnished 61 PAF and 62 CoG estimates. The statistical properties of these estimates were consistent with previous reports. Simulation analyses revealed that the SGF routine was able to reliably extract target alpha components, even under relatively noisy spectral conditions. The routine consistently outperformed a simpler method of automated peak detection that did not involve spectral smoothing. The SGF technique is fast, open source, and available in two popular programming languages (MATLAB, Python), and thus can easily be integrated within the most popular M/EEG toolsets (EEGLAB, FieldTrip, MNE-Python). As such, it affords a convenient tool for improving the reliability and replicability of future IAF-related research.

Abstract

Comprehenders often predict what they are going to hear. But do they make the best predictions possible? We addressed this question in three visual-world eye-tracking experiments by asking when comprehenders consider perspective. Male and female participants listened to male and female speakers producing sentences (e.g., I would like to wear the nice…) about stereotypically masculine (target: tie; distractor: drill) and feminine (target: dress, distractor: hairdryer) objects. In all three experiments, participants rapidly predicted semantic associates of the verb. But participants also predicted consistently – that is, consistent with their beliefs about what the speaker would ultimately say. They predicted consistently from the speaker’s perspective in Experiment 1, their own perspective in Experiment 2, and the character’s perspective in Experiment 3. This consistent effect occurred later than the associative effect. We conclude that comprehenders consider perspective when predicting, but not from the earliest moments of prediction, consistent with a two-stage account.

Abstract

Corpus analyses have shown that turn-taking in conversation is much faster than laboratory studies of speech planning would predict. To explain fast turn-taking, Levinson and Torreira (2015) proposed that speakers are highly proactive: They begin to plan a response to their interlocutor's turn as soon as they have understood its gist, and launch this planned response when the turn-end is imminent. Thus, fast turn-taking is possible because speakers use the time while their partner is talking to plan their own utterance. In the present study, we asked how much time upcoming speakers actually have to plan their utterances. Following earlier psycholinguistic work, we used transcripts of spoken conversations in Dutch, German, and English. These transcripts consisted of segments, which are continuous stretches of speech by one speaker. In the psycholinguistic and phonetic literature, such segments have often been used as proxies for turns. We found that in all three corpora, large proportions of the segments comprised of only one or two words, which on our estimate does not give the next speaker enough time to fully plan a response. Further analyses showed that speakers indeed often did not respond to the immediately preceding segment of their partner, but continued an earlier segment of their own. More generally, our findings suggest that speech segments derived from transcribed corpora do not necessarily correspond to turns, and the gaps between speech segments therefore only provide limited information about the planning and timing of turns.

Abstract

During conversation, interlocutors rapidly switch between speaker and listener
roles and take turns at talk. How do they achieve such fine coordination?
Most research has concentrated on the role of prediction, but listeners
must also prepare a response in advance (assuming they wish to respond)
and articulate this response at the appropriate moment. Such mechanisms
may overlap with the processes of comprehending the speaker’s incoming
turn and predicting its end. However, little is known about the stages of
response preparation and production. We discuss three questions pertaining
to such stages: (1) Do listeners prepare their own response in advance?,
(2) Can listeners buffer their prepared response?, and (3) Does buffering
lead to interference with concurrent comprehension? We argue that fine
coordination requires more than just an accurate prediction of the interlocutor’s
incoming turn: Listeners must also simultaneously prepare their own
response.

Abstract

During conversation, there is often little gap between interlocutors’ utterances. In two pairs of experiments, we manipulated the content predictability of yes/no questions to investigate whether listeners achieve such coordination by (i) preparing a response as early as possible or (ii) predicting the end of the speaker’s turn. To assess these two mechanisms, we varied the participants’ task: They either pressed a button when they thought the question was about to end (Experiments 1a and 2a), or verbally answered the questions with either yes or no (Experiments 1b and 2b). Predictability effects were present when participants had to prepare a verbal response, but not when they had to predict the turn-end. These findings suggest content prediction facilitates turn-taking because it allows listeners to prepare their own response early, rather than because it helps them predict when the speaker will reach the end of their turn.

Abstract

Symbolic play has long been considered a beneficial context for development. According to Cultural Learning theory, one reason for this is that symbolically-infused dialogical interactions constitute a zone of proximal development. However, the dynamics of caregiver-child interactions during symbolic play are still not fully understood. In the current study, we investigated informational exchange between fifty-two 24-month-old infants and their primary caregivers during symbolic play and a comparable, non-symbolic, functional play context. We coded over 11,000 utterances for whether participants had superior, equivalent, or inferior knowledge concerning the current conversational topic. Results showed that children were significantly more knowledgeable speakers and recipients in symbolic play, whereas the opposite was the case for caregivers, who were more knowledgeable in functional play. The results suggest that, despite its potential conceptual complexity, symbolic play may scaffold development because it facilitates infants’ communicative success by promoting them to ‘co-constructors of meaning’.

Abstract

The question of whether lexical decomposition is driven by semantic transparency in the lexical processing of morphologically complex words, such as compounds, remains controversial. Prior research on compound processing has predominantly examined visual processing. Focusing instead on spoken word word recognition, the present study examined the processing of auditorily presented English compounds that were semantically transparent (e.g., farmyard) or partially opaque with an opaque head (e.g., airline) or opaque modifier (e.g., pothole). Three auditory primed lexical decision experiments were run to examine to what extent constituent priming effects are affected by the semantic transparency of a compound and whether semantic transparency affects the processing of heads and modifiers equally. The results showed priming effects for both modifiers and heads regardless of their semantic transparency, indicating that individual constituents are accessed in transparent as well as opaque compounds. In addition, the results showed smaller priming effects for semantically opaque heads compared with matched transparent compounds with the same head. These findings suggest that semantically opaque heads induce an increased processing cost, which may result from the need to suppress the meaning of the head in favor of the meaning of the opaque compound.

Abstract

Previous studies on the processing of ambiguous pronominal reference have led to contradictory results: some suggested that ambiguity may hinder processing (Stewart, Holler, & Kidd, 2007), while others showed an ambiguity advantage (Grant, Sloggett, & Dillon, 2020) similar to what has been reported for structural ambiguities. This study provides a conceptual replication of Stewart et al. (2007, Experiment 1), to examine whether the discrepancy in earlier results is caused by the processing depth that participants engage in (cf. Swets, Desmet, Clifton, & Ferreira, 2008). We present the results from a word-by-word self-paced reading experiment with Dutch sentences that contained a personal pronoun in an embedded clause that was either ambiguous or disambiguated through gender features. Depth of processing of the embedded clause was manipulated through offline comprehension questions. The results showed that the difference in reading times for ambiguous versus unambiguous sentences depends on the processing depth: a significant ambiguity penalty was found under deep processing but not under shallow processing. No significant ambiguity advantage was found, regardless of processing depth. This replicates the results in Stewart et al. (2007) using a different methodology and a larger sample size for appropriate statistical power. These findings provide further evidence that ambiguous pronominal reference resolution is a flexible process, such that the way in which ambiguous sentences are processed depends on the depth of processing of the relevant information. Theoretical and methodological implications of these findings are discussed.

Abstract

A recent debate in the morphological literature concerns the status of derivational affixes. While some linguists (Marantz 1997, 2001; Marvin 2003) consider derivational affixes a type of functional morpheme that realizes a categorial head, others (Lowenstamm 2015; De Belder 2011) argue that derivational affixes are roots. Our proposal, which finds its empirical basis in a study of Dutch derivational affixes, takes a middle position. We argue that there are two types of derivational affixes: some that are roots (i.e. lexical morphemes) and others that are categorial heads (i.e. functional morphemes). Affixes that are roots show ‘flexible’ categorial behavior, are subject to ‘lexical’ phonological rules, and may trigger idiosyncratic meanings. Affixes that realize categorial heads, on the other hand, are categorially rigid, do not trigger ‘lexical’ phonological rules nor allow for idiosyncrasies in their interpretation.

Abstract

How can data be used to check theories’ explanatory adequacy? The two traditional and most widespread approaches use single studies and non-systematic narrative reviews to evaluate theories’ explanatory adequacy; more
recently, large-scale replications entered the picture. We argue here that none of these approaches fits in with
cumulative science tenets. We propose instead Community-Augmented Meta-Analyses (CAMAs), which, like metaanalyses and systematic reviews, are built using all available data; like meta-analyses but not systematic reviews, can
rely on sound statistical practices to model methodological effects; and like no other approach, are broad-scoped,
cumulative and open. We explain how CAMAs entail a conceptual shift from meta-analyses and systematic reviews, a
shift that is useful when evaluating theories’ explanatory adequacy. We then provide step-by-step recommendations
for how to implement this approach – and what it means when one cannot. This leads us to conclude that CAMAs
highlight areas of uncertainty better than alternative approaches that bring data to bear on theory evaluation, and
can trigger a much needed shift towards a cumulative mindset with respect to both theory and data, leading us to
do and view experiments and narrative reviews differently.

Abstract

People in Western cultures are poor at naming smells and flavors. However, for wine and
coffee experts, describing smells and flavors is part of their daily routine. So are experts bet-
ter than lay people at conveying smells and flavors in language? If smells and flavors are
more easily linguistically expressed by experts, or more
“
codable
”
, then experts should be
better than novices at describing smells and flavors. If experts are indeed better, we can
also ask how general this advantage is: do experts show higher codability only for smells
and flavors they are expert in (i.e., wine experts for wine and coffee experts for coffee) or is
their linguistic dexterity more general? To address these questions, wine experts, coffee
experts, and novices were asked to describe the smell and flavor of wines, coffees, every-
day odors, and basic tastes. The resulting descriptions were compared on a number of
measures. We found expertise endows a modest advantage in smell and flavor naming.
Wine experts showed more consistency in how they described wine smells and flavors than
coffee experts, and novices; but coffee experts were not more consistent for coffee descriptions. Neither expert group was any more accurate at identifying everyday smells or tastes. Interestingly, both wine and coffee experts tended to use more source-based terms (e.g., vanilla) in descriptions of their own area of expertise whereas novices tended to use more
evaluative terms (e.g.,nice). However, the overall linguistic strategies for both groups were en par. To conclude, experts only have a limited, domain-specific advantage when communicating about smells and flavors. The ability to communicate about smells and flavors is a matter not only of perceptual training, but specific linguistic training too

Abstract

Whether the opportunity to breed and rear young improves the welfare of captive animals is currently debated. However, there is very little empirical data available to evaluate this relationship and this study is a first attempt to contribute objective data to this debate. We utilized the existing variation in the reproductive experiences of sanctuary chimpanzees at Chimfunshi Wildlife Orphanage Trust in Zambia to investigate whether breeding and rearing young was associated with improved welfare for adult females (N = 43). We considered several behavioural welfare indicators, including rates of luxury behaviours and abnormal or stress-related behaviours under normal conditions and conditions inducing social stress. Furthermore, we investigated whether spending time with young was associated with good or poor welfare for adult females, regardless of their kin relationship. We used generalized linear mixed models and found no difference between adult females with and without dependent young on any welfare indices, nor did we find that time spent in proximity to unrelated young predicted welfare (all full-null model comparisons likelihood ratio tests P > 0.05). However, we did find that coprophagy was more prevalent among mother-reared than non-mother-reared individuals, in line with recent work suggesting this behaviour may have a different etiology than other behaviours often considered to be abnormal. In sum, the findings from this initial study lend support to the hypothesis that the opportunity to breed and rear young does not provide a welfare benefit for chimpanzees in captivity. We hope this investigation provides a valuable starting point for empirical study into the welfare implications of managed breeding.

Abstract

A large amount of variability exists across human brains; revealed initially on a small scale by postmortem studies and,
more recently, on a larger scale with the advent of neuroimaging. Here we compared structural variability between human
and macaque monkey brains using grey and white matter magnetic resonance imaging measures. The monkey brain was
overall structurally as variable as the human brain, but variability had a distinct distribution pattern, with some key areas
showing high variability. We also report the first evidence of a relationship between anatomical variability and evolutionary
expansion in the primate brain. This suggests a relationship between variability and stability, where areas of low variability
may have evolved less recently and have more stability, while areas of high variability may have evolved more recently and
be less similar across individuals. We showed specific differences between the species in key areas, including the amount of
hemispheric asymmetry in variability, which was left-lateralized in the human brain across several phylogenetically recent
regions. This suggests that cerebral variability may be another useful measure for comparison between species and may add
another dimension to our understanding of evolutionary mechanisms.

Abstract

Idiomatic expressions like hit the road or turn the tables are known to be problematic for L2 learners, but research indicates that learning L2 idiomatic language is important. Relatively few studies, most of them focusing on English idioms, have investigated how L2 idioms are actually acquired and how this process is affected by important idiom properties like transparency (the degree to which the figurative meaning of an idiom can be inferred from its literal analysis) and cross-language overlap (the degree to which L2 idioms correspond to L1 idioms). The present study employed a specially designed CALL system to investigate the effects of intensity of practice and the reading modality on learning Dutch L2 idioms, as well as the impact of idiom transparency and cross-language overlap. The results show that CALL practice with a focus on meaning and form is effective for learning L2 idioms and that the degree of practice needed depends on the properties of the idioms. L2 learners can achieve or even exceed native-like performance. Practicing reading idioms aloud does not lead to significantly higher performance than reading idioms silently.These findings have theoretical implications as they show that differences between native speakers and L2 learners are due to differences in exposure, rather than to different underlying acquisition mechanisms. For teaching practice, this study indicates that a properly designed CALL system is an effective and an ecologically sound environment for learning L2 idioms, a generally unattended area in L2 classes, and that teaching priorities should be based on degree of transparency and cross-language overlap of L2 idioms.

Abstract

How do speakers of languages with different intonation systems produce and perceive prosodic junctures in sentences with identical structural ambiguity? Native speakers of English and of Mandarin produced potentially ambiguous sentences with a prosodic juncture either earlier in the utterance (e.g., “He gave her # dog biscuits,” “他给她#狗饼干 ”), or later (e.g., “He gave her dog # biscuits,” “他给她狗 #饼干 ”). These productiondata showed that prosodic disambiguation is realised very similarly in the two languages, despite some differences in the degree to which individual juncture cues (e.g., pausing) were favoured. In perception experiments with a new disambiguation task, requiring speeded responses to select the correct meaning for structurally ambiguous sentences, language differences in disambiguation response time appeared: Mandarin speakers correctly disambiguated sentences with earlier juncture faster than those with later juncture, while English speakers showed the reverse. Mandarin-speakers with L2 English did not show their native-language response time pattern when they heard the English ambiguous sentences. Thus even with identical structural ambiguity and identically cued production, prosodic juncture perception across languages can differ.

Abstract

Not only can the pitfalls that Firestone & Scholl (F&S) identify be generalised across multiple studies within the field of visual perception, but also they have general application outside the field wherever perceptual and cognitive processing are compared. We call attention to the widespread susceptibility of research on the perception of speech to versions of the same pitfalls.

Abstract

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

Abstract

Language production and comprehension are intimately interrelated; and models of production and comprehension should, we argue, be constrained by common architectural guidelines. Levelt et al.'s target article adopts as guiding principle Ockham's razor: the best model of production is the simplest one. We recommend adoption of the same principle in comprehension, with consequent simplification of some well-known types of models.

Abstract

In four experiments, listeners’ response times to detect vowel targets in spoken input were measured. The first three experiments were conducted in English. In two, one using real words and the other, nonwords, detection accuracy was low, targets in initial syllables were detected more slowly than targets in final syllables, and both response time and missed-response rate were inversely correlated with vowel duration. In a third experiment, the speech context for some subjects included all English vowels, while for others, only five relatively distinct vowels occurred. This manipulation had essentially no effect, and the same response pattern was again observed. A fourth experiment, conducted in Spanish, replicated the results in the first three experiments, except that miss rate was here unrelated to vowel duration. We propose that listeners’ responses to vowel targets in naturally spoken input are effectively cautious, reflecting realistic appreciation of vowel variability in natural context.

Abstract

Three experiments addressed the question of whether pitch-accent information may be exploited in the process of recognizing spoken words in Tokyo Japanese. In a two-choice classification task, listeners judged from which of two words, differing in accentual structure, isolated syllables had been extracted ~e.g., ka from baka HL or gaka LH!; most judgments were correct, and listeners’ decisions were correlated with the fundamental frequency characteristics of the syllables. In a gating experiment, listeners heard initial fragments of words and guessed what the words were; their guesses overwhelmingly had the same initial accent structure as the gated word even when only the beginning CV of the stimulus ~e.g., na- from nagasa HLL or nagashi LHH! was presented. In addition, listeners were more confident in guesses with the same initial accent structure as the stimulus than in guesses with different accent. In a lexical decision experiment, responses to spoken words ~e.g., ame HL! were speeded by previous presentation of the same word ~e.g., ame HL! but not by previous presentation of a word differing only in accent ~e.g., ame LH!. Together these findings provide strong evidence that accentual information constrains the activation and selection of candidates for spoken-word recognition.

Abstract

One of a listener's major tasks in understanding continuous speech is segmenting the speech signal into separate words. When listening conditions are difficult, speakers can help listeners by deliberately speaking more clearly. In four experiments, we examined how word boundaries are produced in deliberately clear speech. In an earlier report we showed that speakers do indeed mark word boundaries in clear speech, by pausing at the boundary and lengthening pre-boundary syllables; moreover, these effects are applied particularly to boundaries preceding weak syllables. In English, listeners use segmentation procedures which make word boundaries before strong syllables easier to perceive; thus marking word boundaries before weak syllables in clear speech will make clear precisely those boundaries which are otherwise hard to perceive. The present report presents supplementary data, namely prosodic analyses of the syllable following a critical word boundary. More lengthening and greater increases in intensity were applied in clear speech to weak syllables than to strong. Mean F0 was also increased to a greater extent on weak syllables than on strong. Pitch movement, however, increased to a greater extent on strong syllables than on weak. The effects were, however, very small in comparison to the durational effects we observed earlier for syllables preceding the boundary and for pauses at the boundary.

Abstract

Listening to speech is difficult in noisy environments, and is even harder when the interfering noise consists of intelligible speech as compared to unintelligible sounds. This suggests that the competing linguistic information interferes with the neural processing of target speech. Interference could either arise from a degradation of the neural representation of the target speech, or from increased representation of distracting speech that enters in competition with the target speech. We tested these alternative hypotheses using magnetoencephalography (MEG) while participants listened to a target clear speech in the presence of distracting noise-vocoded speech. Crucially, the distractors were initially unintelligible but became more intelligible after a short training session. Results showed that the comprehension of the target speech was poorer after training than before training. The neural tracking of target speech in the delta range (1–4 Hz) reduced in strength in the presence of a more intelligible distractor. In contrast, the neural tracking of distracting signals was not significantly modulated by intelligibility. These results suggest that the presence of distracting speech signals degrades the linguistic representation of target speech carried by delta oscillations.

Abstract

The neural mechanism for selectively tuning in to a target speaker while tuning out the others in a multi-speaker situation (i.e., the cocktail-party effect) remains elusive. Here we addressed this issue by measuring brain activity simultaneously from a listener and from multiple speakers while they were involved in naturalistic conversations. Results consistently show selectively enhanced interpersonal neural synchronization (INS) between the listener and the attended speaker at left temporal–parietal junction, compared with that between the listener and the unattended speaker across different multi-speaker situations. Moreover, INS increases significantly prior to the occurrence of verbal responses, and even when the listener’s brain activity precedes that of the speaker. The INS increase is independent of brain-to-speech synchronization in both the anatomical location and frequency range. These findings suggest that INS underlies the selective process in a multi-speaker situation through neural predictions at the content level but not the sensory level of speech.

Abstract

Background

Variation in the longitudinal course of childhood attention deficit/hyperactivity disorder (ADHD) coincides with neurodevelopmental maturation of brain structure and function. Prior work has attempted to determine how alterations in white matter (WM) relate to changes in symptom severity, but much of that work has been done in smaller cross-sectional samples using voxel-based analyses. Using standard diffusion-weighted imaging (DWI) methods, we previously showed WM alterations were associated with ADHD symptom remission over time in a longitudinal sample of probands, siblings, and unaffected individuals. Here, we extend this work by further assessing the nature of these changes in WM microstructure by including an additional follow-up measurement (aged 18 – 34 years), and using the more physiologically informative fixel-based analysis (FBA).
Methods

Data were obtained from 139 participants over 3 clinical and 2 follow-up DWI waves, and analyzed using FBA in regions-of-interest based on prior findings. We replicated previously reported significant models and extended them by adding another time-point, testing whether changes in combined ADHD and hyperactivity-impulsivity (HI) continuous symptom scores are associated with fixel metrics at follow-up.
Results

Clinical improvement in HI symptoms over time was associated with more fiber density at follow-up in the left corticospinal tract (lCST) (tmax = 1.092, standardized effect[SE] = 0.044, pFWE = 0.016). Improvement in combined ADHD symptoms over time was associated with more fiber cross-section at follow-up in the lCST (tmax = 3.775, SE = 0.051, pFWE = 0.019).
Conclusions

Aberrant white matter development involves both lCST micro- and macrostructural alterations, and its path may be moderated by preceding symptom trajectory.

Abstract

A response to Moving Beyond Nature-Nurture: a Problem of Science or Communication? by John Spencer, Mark Blumberg and David Shenk

Abstract

One of the best-known types of non-independence between languages is caused by genealogical relationships due to descent from a common ancestor. These can be represented by (more or less resolved and controversial) language family trees. In theory, one can argue that language families should be built through the strict application of the comparative method of historical linguistics, but in practice this is not always the case, and there are several proposed classifications of languages into language families, each with its own advantages and disadvantages. A major stumbling block shared by most of them is that they are relatively difficult to use with computational methods, and in particular with phylogenetics. This is due to their lack of standardization, coupled with the general non-availability of branch length information, which encapsulates the amount of evolution taking place on the family tree. In this paper I introduce a method (and its implementation in R) that converts the language classifications provided by four widely-used databases (Ethnologue, WALS, AUTOTYP and Glottolog) intothe de facto Newick standard generally used in phylogenetics, aligns the four most used conventions for unique identifiers of linguistic entities (ISO 639-3, WALS, AUTOTYP and Glottocode), and adds branch length information from a variety of sources (the tree's own topology, an externally given numeric constant, or a distance matrix). The R scripts, input data and resulting Newick trees are available under liberal open-source licenses in a GitHub repository (https://github.com/ddediu/lgfam-newick), to encourage and promote the use of phylogenetic methods to investigate linguistic diversity and its temporal dynamics.

Abstract

Interest in the origins and evolution of language has been around for as long as language has been around. However, only recently has the empirical study of language come of age. We argue that the field has sufficiently advanced that it now needs its own journal—the Journal of Language Evolution.

Abstract

Our understanding of language, its origins and subsequent evolution (including language change) is shaped not only by data and theories from the language sciences, but also fundamentally by the biological sciences. Recent developments in genetics and evolutionary theory offer both very strong constraints on what scenarios of language evolution are possible and probable but also offer exciting opportunities for understanding otherwise puzzling phenomena. Due to the intrinsic breathtaking rate of advancement in these fields, the complexity, subtlety and sometimes apparent non-intuitiveness of the phenomena discovered, some of these recent developments have either being completely missed by language scientists, or misperceived and misrepresented. In this short paper, we offer an update on some of these findings and theoretical developments through a selection of illustrative examples and discussions that cast new light on current debates in the language sciences. The main message of our paper is that life is much more complex and nuanced than anybody could have predicted even a few decades ago, and that we need to be flexible in our theorizing instead of embracing a priori dogmas and trying to patch paradigms that are no longer satisfactory.

Abstract

Here we re-evaluate our 2013 paper on the antiquity of language (Dediu and Levinson, 2013) in the light of a surge of new information on human evolution in the last half million years. Although new genetic data suggest the existence of some cognitive differences between Neanderthals and modern humans — fully expected after hundreds of thousands of years of partially separate evolution, overall our claims that Neanderthals were fully articulate beings and that language evolution was gradual are further substantiated by the wealth of new genetic, paleontological and archeological evidence briefly reviewed here.

Abstract

Serial verb constructions have often been said to refer to single conceptual events. However, evidence to support this claim has been elusive. This article introduces co-speech gestures as a new way of investigating the relationship. The alignment patterns of gestures with serial verb constructions and other complex clauses were compared in Avatime (Ka-Togo, Kwa, Niger-Congo). Serial verb constructions tended to occur with single gestures overlapping the entire construction. In contrast, other complex clauses were more likely to be accompanied by distinct gestures overlapping individual verbs. This pattern of alignment suggests that serial verb constructions are in fact used to describe single events.

Abstract

In this article we investigate the relation between discourse markers and turn-transition strategies in face-to-face conversations and Instant Messaging (IM), that is, unplanned, real-time, text-based, computer-mediated communication. By means of a quantitative corpus study of utterances containing a discourse marker, we show that utterance-final discourse markers are used more often in IM than in face-to-face conversations. Moreover, utterance-final discourse markers are shown to occur more often at points of turn-transition compared with points of turn-maintenance in both types of conversation. From our results we conclude that the discourse markers in utterance-final position can function as a turn-transition mechanism, signaling that the turn is over and the floor is open to the hearer. We argue that this linguistic turn-taking strategy is essentially similar in face-to-face and IM communication. Our results add to the evidence that communication in IM is more like speech than like writing.

Abstract

Recurrent de novo variants in the TBR1 transcription factor are implicated in the etiology of sporadic autism spectrum disorders (ASD). Disruptions include missense variants located in the T-box DNA-binding domain and previous work has demonstrated that they disrupt TBR1 protein function. Recent screens of thousands of simplex families with sporadic ASD cases uncovered additional T-box variants in TBR1 but their etiological relevance is unclear. We performed detailed functional analyses of de novo missense TBR1 variants found in the T-box of ASD cases, assessing many aspects of protein function, including subcellular localization, transcriptional activity and protein-interactions. Only two of the three tested variants severely disrupted TBR1 protein function, despite in silico predictions that all would be deleterious. Furthermore, we characterized a putative interaction with BCL11A, a transcription factor that was recently implicated in a neurodevelopmental syndrome involving developmental delay and language deficits. Our findings enhance understanding of molecular functions of TBR1, as well as highlighting the importance of functional testing of variants that emerge from next-generation sequencing, to decipher their contributions to neurodevelopmental disorders like ASD.

Abstract

Intellectual disability (ID) is a severe neurodevelopmental disorder with genetically heterogeneous causes. Large-scale sequencing has led to the identification of many gene-disrupting mutations; however, a substantial proportion of cases lack a molecular diagnosis. As such, there remains much to uncover for a complete understanding of the genetic underpinnings of ID. Genetic variants present in non-coding regions of the genome have been highlighted as potential contributors to neurodevelopmental disorders given their role in regulating gene expression. Nevertheless the functional characterization of non-coding variants remains challenging. We describe the identification and characterization of de novo non-coding variation in 3′UTR regulatory regions within an ID cohort of 50 patients. This cohort was previously screened for structural and coding pathogenic variants via CNV, whole exome and whole genome analysis. We identified 44 high-confidence single nucleotide non-coding variants within the 3′UTR regions of these 50 genomes. Four of these variants were located within predicted miRNA binding sites and were thus hypothesised to have regulatory consequences. Functional testing showed that two of the variants interfered with miRNA-mediated regulation of their target genes, AMD1 and FAIM. Both these variants were found in the same individual and their functional consequences may point to a potential role for such variants in intellectual disability.

Abstract

Understanding the genetic factors underlying neurodevelopmental and neuropsychiatric disorders is a major challenge given their prevalence and potential severity for quality of life. While large-scale genomic screens have made major advances in this area, for many disorders the genetic underpinnings are complex and poorly understood. To date the field has focused predominantly on protein coding variation, but given the importance of tightly controlled gene expression for normal brain development and disorder, variation that affects non-coding regulatory regions of the genome is likely to play an important role in these phenotypes. Herein we show the importance of 3 prime untranslated region (3'UTR) non-coding regulatory variants across neurodevelopmental and neuropsychiatric disorders. We devised a pipeline for identifying and functionally validating putatively pathogenic variants from next generation sequencing (NGS) data. We applied this pipeline to a cohort of children with severe specific language impairment (SLI) and identified a functional, SLI-associated variant affecting gene regulation in cells and post-mortem human brain. This variant and the affected gene (ARHGEF39) represent new putative risk factors for SLI. Furthermore, we identified 3′UTR regulatory variants across autism, schizophrenia and bipolar disorder NGS cohorts demonstrating their impact on neurodevelopmental and neuropsychiatric disorders. Our findings show the importance of investigating non-coding regulatory variants when determining risk factors contributing to neurodevelopmental and neuropsychiatric disorders. In the future, integration of such regulatory variation with protein coding changes will be essential for uncovering the genetic causes of complex neurological disorders and the fundamental mechanisms underlying health and disease

Abstract

Intellectual disability (ID) is a common condition with considerable genetic heterogeneity. Next-generation sequencing of large cohorts has identified an increasing number of genes implicated in ID, but their roles in neurodevelopment remain largely unexplored. Here we report an ID syndrome caused by de novo heterozygous missense, nonsense, and frameshift mutations in BCL11A, encoding a transcription factor that is a putative member of the BAF swi/snf chromatin-remodeling complex. Using a comprehensive integrated approach to ID disease modeling, involving human cellular analyses coupled to mouse behavioral, neuroanatomical, and molecular phenotyping, we provide multiple lines of functional evidence for phenotypic effects. The etiological missense variants cluster in the amino-terminal region of human BCL11A, and we demonstrate that they all disrupt its localization, dimerization, and transcriptional regulatory activity, consistent with a loss of function. We show that Bcl11a haploinsufficiency in mice causes impaired cognition, abnormal social behavior, and microcephaly in accordance with the human phenotype. Furthermore, we identify shared aberrant transcriptional profiles in the cortex and hippocampus of these mouse models. Thus, our work implicates BCL11A haploinsufficiency in neurodevelopmental disorders and defines additional targets regulated by this gene, with broad relevance for our understanding of ID and related syndromes

Abstract

People differ in their ability to perceive second language (L2) sounds. In early bilinguals the variability in learning L2 phonemes stems from speech-specific capabilities (Díaz, Baus, Escera, Costa & Sebastián-Gallés, 2008). The present study addresses whether speech-specific capabilities similarly explain variability in late bilinguals. Event-related potentials were recorded (using a design similar to Díaz et al., 2008) in two groups of late Dutch–English bilinguals who were good or poor in overtly discriminating the L2 English vowels /ε-æ/. The mismatch negativity, an index of discrimination sensitivity, was similar between the groups in conditions involving pure tones (of different length, frequency, and presentation order) but was attenuated in poor L2 perceivers for native, unknown, and L2 phonemes. These results suggest that variability in L2 phonemic learning originates from speech-specific capabilities and imply a continuity of L2 phonemic learning mechanisms throughout the lifespan

Abstract

This paper investigates when and how children figure out the force of modals: that possibility modals (e.g., can/might) express possibility, and necessity modals (e.g., must/have to) express necessity. Modals raise a classic subset problem: given that necessity entails possibility, what prevents learners from hypothesizing possibility meanings for necessity modals? Three solutions to such subset problems can be found in the literature: the first is for learners to rely on downward-entailing (DE) environments (Gualmini and Schwarz in J. Semant. 26(2):185–215, 2009); the second is a bias for strong (here, necessity) meanings; the third is for learners to rely on pragmatic cues stemming from the conversational context (Dieuleveut et al. in Proceedings of the 2019 Amsterdam colloqnium, pp. 111–122, 2019a; Rasin and Aravind in Nat. Lang. Semant. 29:339–375, 2020). This paper assesses the viability of each of these solutions by examining the modals used in speech to and by 2-year-old children, through a combination of corpus studies and experiments testing the guessability of modal force based on their context of use. Our results suggest that, given the way modals are used in speech to children, the first solution is not viable and the second is unnecessary. Instead, we argue that the conversational context in which modals occur is highly informative as to their force and sufficient, in principle, to sidestep the subset problem. Our child results further suggest an early mastery of possibility—but not necessity—modals and show no evidence for a necessity bias.

Abstract

To investigate how orthography and semantics interact during bilingual visual word recognition, Dutch–English bilinguals made lexical decisions in two masked priming experiments. Dutch primes and English targets were presented that were either neighbour cognates (boek – BOOK), noncognate translations (kooi – CAGE), orthographically related neighbours (neus – NEWS), or unrelated words (huid - COAT). Prime durations of 50 ms (Experiment 1) and 83 ms (Experiment 2) led to similar result patterns. Both experiments reported a large cognate facilitation effect, a smaller facilitatory noncognate translation effect, and the absence of inhibitory orthographic neighbour effects. These results indicate that cognate facilitation is in large part due to orthographic-semantic resonance. Priming results for each condition were simulated well (all r's >.50) by Multilink+, a recent computational model for word retrieval. Limitations to the role of lateral inhibition in bilingual word recognition are discussed.

Abstract

Age has a major effect on brain volume. However, the normative studies available are constrained by small sample sizes, restricted age coverage and significant methodological variability. These limitations introduce inconsistencies and may obscure or distort the lifespan trajectories of brain morphometry. In response, we capitalized on the resources of the Enhancing Neuroimaging Genetics through Meta‐Analysis (ENIGMA) Consortium to examine age‐related trajectories inferred from cross‐sectional measures of the ventricles, the basal ganglia (caudate, putamen, pallidum, and nucleus accumbens), the thalamus, hippocampus and amygdala using magnetic resonance imaging data obtained from 18,605 individuals aged 3–90 years. All subcortical structure volumes were at their maximum value early in life. The volume of the basal ganglia showed a monotonic negative association with age thereafter; there was no significant association between age and the volumes of the thalamus, amygdala and the hippocampus (with some degree of decline in thalamus) until the sixth decade of life after which they also showed a steep negative association with age. The lateral ventricles showed continuous enlargement throughout the lifespan. Age was positively associated with inter‐individual variability in the hippocampus and amygdala and the lateral ventricles. These results were robust to potential confounders and could be used to examine the functional significance of deviations from typical age‐related morphometric patterns.

Abstract

Adherence to medications is an important indicator of the quality of medication management and impacts on health outcomes and cost-effectiveness of healthcare delivery. Electronic healthcare data (EHD) are increasingly used to estimate adherence in research and clinical practice, yet standardization and transparency of data processing are still a concern. Comprehensive and flexible open-source algorithms can facilitate the development of high-quality, consistent, and reproducible evidence in this field. Some EHD-based clinical decision support systems (CDSS) include visualization of medication histories, but this is rarely integrated in adherence analyses and not easily accessible for data exploration or implementation in new clinical settings. We introduce AdhereR, a package for the widely used open-source statistical environment R, designed to support researchers in computing EHD-based adherence estimates and in visualizing individual medication histories and adherence patterns. AdhereR implements a set of functions that are consistent with current adherence guidelines, definitions and operationalizations. We illustrate the use of AdhereR with an example dataset of 2-year records of 100 patients and describe the various analysis choices possible and how they can be adapted to different health conditions and types of medications. The package is freely available for use and its implementation facilitates the integration of medication history visualizations in open-source CDSS platforms.

Abstract

Communication is facilitated when listeners allocate their attention to important information (focus) in the message, a process called "information structure." Linguistic cues like the preceding context and pitch accent help listeners to identify focused information. In multimodal communication, relevant information can be emphasized by nonverbal cues like beat gestures, which represent rhythmic nonmeaningful hand movements. Recent studies have found that linguistic and nonverbal attention cues are integrated independently in single sentences. However, it is possible that these two cues interact when information is embedded in context, because context allows listeners to predict what information is important. In an ERP study, we tested this hypothesis and asked listeners to view videos capturing a dialogue. In the critical sentence, focused and nonfocused words were accompanied by beat gestures, grooming hand movements, or no gestures. ERP results showed that focused words are processed more attentively than nonfocused words as reflected in an N1 and P300 component. Hand movements also captured attention and elicited a P300 component. Importantly, beat gesture and focus interacted in a late time window of 600-900 msec relative to target word onset, giving rise to a late positivity when nonfocused words were accompanied by beat gestures. Our results show that listeners integrate beat gesture with the focus of the message and that integration costs arise when beat gesture falls on nonfocused information. This suggests that beat gestures fulfill a unique focusing function in multimodal discourse processing and that they have to be integrated with the information structure of the message.

Abstract

We provide an annotated coding scheme for other-initiated repair, along with guidelines for building collections and aggregating cases based on interactionally relevant similarities and differences. The questions and categories of the scheme are grounded in inductive observations of conversational data and connected to a rich body of work on other-initiated repair in conversation analysis. The scheme is developed and tested in a 12-language comparative project and can serve as a stepping stone for future work on other-initiated repair and the systematic comparative study of conversational structures.

Abstract

Ideophones (also known as expressives or mimetics, and including onomatopoeia) have been systematically studied in linguistics since the 1850s, when they were first described as a lexical class of vivid sensory words in West-African languages. This paper surveys the research history of ideophones, from its roots in African linguistics to its fruits in general linguistics and typology around the globe. It shows that despite a recurrent narrative of marginalisation, work on ideophones has made an impact in many areas of linguistics, from theories of phonological features to typologies of manner and motion, and from sound symbolism to sensory language. Due to their hybrid nature as gradient vocal gestures that grow roots in discrete linguistic systems, ideophones provide opportunities to reframe typological questions, reconsider the role of language ideology in linguistic scholarship, and rethink the margins of language. With ideophones increasingly being brought into the fold of the language sciences, this review synthesises past theoretical insights and empirical findings in order to enable future work to build on them.

Abstract

Sound symbolism is a phenomenon with broad relevance to the study of language and mind, but there has been a disconnect between its investigations in linguistics and psychology. This study tests the sound-symbolic potential of ideophones—words described as iconic—in an experimental task that improves over prior work in terms of ecological validity and experimental control. We presented 203 ideophones from five languages to eighty-two Dutch listeners in a binary-choice task, in four versions: original recording, full diphone resynthesis, segments-only resynthesis, and prosody-only resynthesis. Listeners guessed the meaning of all four versions above chance, confirming the iconicity of ideophones and showing the viability of speech synthesis as a way of controlling for segmental and suprasegmental properties in experimental studies of sound symbolism. The success rate was more modest than prior studies using pseudowords like bouba/kiki, implying that assumptions based on such words cannot simply be transferred to natural languages. Prosody and segments together drive the effect: neither alone is sufficient, showing that segments and prosody work together as cues supporting iconic interpretations. The findings cast doubt on attempts to ascribe iconic meanings to segments alone and support a view of ideophones as words that combine arbitrariness and iconicity.We discuss the implications for theory and methods in the empirical study of sound symbolism and iconicity.

Abstract

Background Sanger sequencing, still the standard technique for genetic testing in most diagnostic laboratories and until recently widely used in research, is gradually being complemented by next-generation sequencing (NGS). No single mutation detection technique is however perfect in identifying all mutations. Therefore, we wondered to what extent inconsistencies between Sanger sequencing and NGS affect the molecular diagnosis of patients. Since mutations in SCN1A, the major gene implicated in epilepsy, are found in the majority of Dravet syndrome (DS) patients, we focused on missed SCN1A mutations. Methods We sent out a survey to 16 genetic centers performing SCN1A testing. Results We collected data on 28 mutations initially missed using Sanger sequencing. All patients were falsely reported as SCN1A mutation-negative, both due to technical limitations and human errors. Conclusion We illustrate the pitfalls of Sanger sequencing and most importantly provide evidence that SCN1A mutations are an even more frequent cause of DS than already anticipated.

Abstract

Relationships among laurasiatherian clades represent one of the most highly disputed topics in mammalian phylogeny. In this study, we attempt to disentangle laurasiatherian interordinal relationships using two independent genome-level approaches: (1) quantifying retrotransposon presence/absence patterns, and (2) comparisons of exon datasets at the levels of nucleotides and amino acids. The two approaches revealed contradictory phylogenetic signals, possibly due to a high level of ancestral incomplete lineage sorting. The positions of Eulipotyphla and Chiroptera as the first and second earliest divergences were consistent across the approaches. However, the phylogenetic relationships of Perissodactyla, Cetartiodactyla, and Ferae, were contradictory. While retrotransposon insertion analyses suggest a clade with Cetartiodactyla and Ferae, the exon dataset favoured Cetartiodactyla and Perissodactyla. Future analyses of hitherto unsampled laurasiatherian lineages and synergistic analyses of retrotransposon insertions, exon and conserved intron/intergenic sequences might unravel the conflicting patterns of relationships in this major mammalian clade.

Abstract

People readily generalize knowledge to novel domains and stimuli. We present a theory, instantiated in a computational model, based on the idea that cross-domain generalization in humans is a case of analogical inference over structured (i.e., symbolic) relational representations. The model is an extension of the Learning and Inference with Schemas and Analogy (LISA; Hummel & Holyoak, 1997, 2003) and Discovery of Relations by Analogy (DORA; Doumas et al., 2008) models of relational inference and learning. The resulting model learns both the content and format (i.e., structure) of relational representations from nonrelational inputs without supervision, when augmented with the capacity for reinforcement learning it leverages these representations to learn about individual domains, and then generalizes to new domains on the first exposure (i.e., zero-shot learning) via analogical inference. We demonstrate the capacity of the model to learn structured relational representations from a variety of simple visual stimuli, and to perform cross-domain generalization between video games (Breakout and Pong) and between several psychological tasks. We demonstrate that the model’s trajectory closely mirrors the trajectory of children as they learn about relations, accounting for phenomena from the literature on the development of children’s reasoning and analogy making. The model’s ability to generalize between domains demonstrates the flexibility afforded by representing domains in terms of their underlying relational structure, rather than simply in terms of the statistical relations between their inputs and outputs.

Abstract

How a system represents information tightly constrains the kinds of problems it can solve. Humans routinely solve problems that appear to require structured representations of stimulus properties and the relations between them. An account of how we might acquire such representations has central importance for theories of human cognition. We describe how a system can learn structured relational representations from initially unstructured inputs using comparison, sensitivity to time, and a modified Hebbian learning algorithm. We summarize how the model DORA (Discovery of Relations by Analogy) instantiates this approach, which we call predicate learning, as well as how the model captures several phenomena from cognitive development, relational reasoning, and language processing in the human brain. Predicate learning offers a link between models based on formal languages and models which learn from experience and provides an existence proof for how structured representations might be learned in the first place.

Abstract

Reading and writing are crucial life skills but roughly one in ten children are affected by dyslexia, which can persist into adulthood. Family studies of dyslexia suggest heritability up to 70%, yet few convincing genetic markers have been found. Here we performed a genome-wide association study of 51,800 adults self-reporting a dyslexia diagnosis and 1,087,070 controls and identified 42 independent genome-wide significant loci: 15 in genes linked to cognitive ability/educational attainment, and 27 new and potentially more specific to dyslexia. We validated 23 loci (13 new) in independent cohorts of Chinese and European ancestry. Genetic etiology of dyslexia was similar between sexes, and genetic covariance with many traits was found, including ambidexterity, but not neuroanatomical measures of language-related circuitry. Dyslexia polygenic scores explained up to 6% of variance in reading traits, and might in future contribute to earlier identification and remediation of dyslexia.

Abstract

We here demonstrate that face-to-face spatial orientation induces a special ‘social mode’ for neurocognitive processing during conversation, even in the absence of visibility. Participants conversed face-to-face, face-to-face but visually occluded, and back-to-back to tease apart effects caused by seeing visual communicative signals and by spatial orientation. Using dual-EEG, we found that 1) listeners’ brains engaged more strongly while conversing in face-to-face than back-to-back, irrespective of the visibility of communicative signals, 2) listeners attended to speech more strongly in a back-to-back compared to a face-to-face spatial orientation without visibility; visual signals further reduced the attention needed; 3) the brains of interlocutors were more in sync in a face-to-face compared to a back-to-back spatial orientation, even when they could not see each other; visual signals further enhanced this pattern. Communicating in face-to-face spatial orientation is thus sufficient to induce a special ‘social mode’ which fine-tunes the brain for neurocognitive processing in conversation.

Abstract

A commentary on
Transcranial Magnetic Stimulation over Left Inferior Frontal and Posterior Temporal Cortex Disrupts Gesture-Speech Integration

by Zhao, W., Riggs, K., Schindler, I., and Holle, H. (2018). J. Neurosci. 10, 1748–1717. doi: 10.1523/JNEUROSCI.1748-17.2017

Abstract

Previous work revealed that visual semantic information conveyed by gestures can enhance degraded speech comprehension, but the mechanisms underlying these integration processes under adverse listening conditions remain poorly understood. We used MEG to investigate how oscillatory dynamics support speech–gesture integration when integration load is manipulated by auditory (e.g., speech degradation) and visual semantic (e.g., gesture congruency) factors. Participants were presented with videos of an actress uttering an action verb in clear or degraded speech, accompanied by a matching (mixing gesture + “mixing”) or mismatching (drinking gesture + “walking”) gesture. In clear speech, alpha/beta power was more suppressed in the left inferior frontal gyrus and motor and visual cortices when integration load increased in response to mismatching versus matching gestures. In degraded speech, beta power was less suppressed over posterior STS and medial temporal lobe for mismatching compared with matching gestures, showing that integration load was lowest when speech was degraded and mismatching gestures could not be integrated and disambiguate the degraded signal. Our results thus provide novel insights on how low-frequency oscillatory modulations in different parts of the cortex support the semantic audiovisual integration of gestures in clear and degraded speech: When speech is clear, the left inferior frontal gyrus and motor and visual cortices engage because higher-level semantic information increases semantic integration load. When speech is degraded, posterior STS/middle temporal gyrus and medial temporal lobe are less engaged because integration load is lowest when visual semantic information does not aid lexical retrieval and speech and gestures cannot be integrated.

Abstract

Reduced forms like yeshay for yesterday often occur in conversations. Previous behavioral research reported a processing advantage for full over reduced forms. The present study investigated whether this processing advantage is reflected in a modulation of alpha (8–12 Hz) and gamma (30+ Hz) band activity. In three electrophysiological experiments, participants listened to full and reduced forms in isolation (Experiment 1), sentence-final position (Experiment 2), or mid-sentence position (Experiment 3). Alpha power was larger in response to reduced forms than to full forms, but only in Experiments 1 and 2. We interpret these increases in alpha power as reflections of higher auditory cognitive load. In all experiments, gamma power only increased in response to full forms, which we interpret as showing that lexical activation spreads more quickly through the semantic network for full than for reduced forms. These results confirm a processing advantage for full forms, especially in non-medial sentence position.

Abstract

During face-to-face communication, listeners integrate speech with gestures. The semantic information conveyed by iconic gestures (e.g., a drinking gesture) can aid speech comprehension in adverse listening conditions. In this magnetoencephalography (MEG) study, we investigated the spatiotemporal neural oscillatory activity associated with gestural enhancement of degraded speech comprehension. Participants watched videos of an actress uttering clear or degraded speech, accompanied by a gesture or not and completed a cued-recall task after watching every video. When gestures semantically disambiguated degraded speech comprehension, an alpha and beta power suppression and a gamma power increase revealed engagement and active processing in the hand-area of the motor cortex, the extended language network (LIFG/pSTS/STG/MTG), medial temporal lobe, and occipital regions. These observed low- and high-frequency oscillatory modulations in these areas support general unification, integration and lexical access processes during online language comprehension, and simulation of and increased visual attention to manual gestures over time. All individual oscillatory power modulations associated with gestural enhancement of degraded speech comprehension predicted a listener's correct disambiguation of the degraded verb after watching the videos. Our results thus go beyond the previously proposed role of oscillatory dynamics in unimodal degraded speech comprehension and provide first evidence for the role of low- and high-frequency oscillations in predicting the integration of auditory and visual information at a semantic level.

Abstract

Native listeners neurally integrate iconic gestures with speech, which can enhance degraded speech comprehension. However, it is unknown how non-native listeners neurally integrate speech and gestures, as they might process visual semantic context differently than natives. We recorded EEG while native and highly-proficient non-native listeners watched videos of an actress uttering an action verb in clear or degraded speech, accompanied by a matching ('to drive'+driving gesture) or mismatching gesture ('to drink'+mixing gesture). Degraded speech elicited an enhanced N400 amplitude compared to clear speech in both groups, revealing an increase in neural resources needed to resolve the spoken input. A larger N400 effect was found in clear speech for non-natives compared to natives, but in degraded speech only for natives. Non-native listeners might thus process gesture more strongly than natives when speech is clear, but need more auditory cues to facilitate access to gestural semantic information when speech is degraded.

Abstract

This paper presents a study of the spontaneous pre-sentential negations
of ten English-speaking children between the ages of 1; 6 and 3; 4 which
supports the hypothesis that child English nonanaphoric pre-sentential
negation is a form of metalinguistic exclamatory sentence negation. A
detailed discourse analysis reveals that children's pre-sentential negatives
like No Nathaniel a king (i) are characteristically echoic, and (it)
typically express objection and rectification, two characteristic functions
of exclamatory negation in adult discourse, e.g. Don't say 'Nathaniel's a
king'! A comparison of children's pre-sentential negations with their
internal predicate negations using not and don't reveals that the two
negative constructions are formally and functionally distinct. I argue
that children's nonanaphoric pre-sentential negatives constitute an
independent, well-formed class of discourse negation. They are not
'primitive' constructions derived from the miscategorization of emphatic
no in adult speech or children's 'inventions'. Nor are they an
early derivational variant of internal sentence negation. Rather, these
negatives reflect young children's competence in using grammatical
negative constructions appropriately in discourse.

Abstract

There is ample evidence that native and non-native listeners use lexical knowledge to retune their native phonetic categories following ambiguous pronunciations. The present study investigates whether a non-native ambiguous sound can retune non-native phonetic categories. After a brief exposure to an ambiguous British English [l/ɹ] sound, Dutch listeners demonstrated retuning. This retuning was, however, asymmetrical: the non-native listeners seemed to show (more) retuning of the /ɹ/ category than of the /l/ category, suggesting that non-native listeners can retune non-native phonetic categories. This asymmetry is argued to be related to the large phonetic variability of /r/ in both Dutch and English.

Abstract

The number of individuals affected by traumatic brain injury (TBI) is growing globally. TBIs may cause a range of physical, cognitive, and psychiatric deficits that can negatively impact employment, academic attainment, community independence, and interpersonal relationships. Although there has been a significant decrease in the number of injury related deaths over the past several decades, there has been no corresponding reduction in injury related disability over the same time period. We propose that patient registries with large, representative samples and rich multidimensional and longitudinal data have tremendous value in advancing basic and translational research and in capturing, characterizing, and predicting individual differences in deficit profile and outcomes. Patient registries, together with recent theoretical and methodological advances in analytic approaches and neuroscience, provide powerful tools for brain injury research and for leveraging the heterogeneity that has traditionally been cited as a barrier inhibiting progress in treatment research and clinical practice. We report on our experiences, and challenges, in developing and maintaining our own patient registry. We conclude by pointing to some future opportunities for discovery that are afforded by a registry model.

Abstract

Motricity is the most commonly affected ability after a stroke. While many clinical studies attempt to predict motor symptoms at different chronic time points after a stroke, longitudinal acute-to-chronic studies remain scarce. Taking advantage of recent advances in mapping brain disconnections, we predict motor outcomes in 62 patients assessed longitudinally two weeks, three months, and one year after their stroke. Results indicate that brain disconnection patterns accurately predict motor impairments. However, disconnection patterns leading to impairment differ between the three-time points and between left and right motor impairments. These results were cross-validated using resampling techniques. In sum, we demonstrated that while some neuroplasticity mechanisms exist changing the structure–function relationship, disconnection patterns prevail when predicting motor impairment at different time points after stroke.

Abstract

Numerous studies in psychology, cognitive neuroscience and psycholinguistics have used pictures of objects as stimulus materials. Currently, authors engaged in cross-linguistic work or wishing to run parallel studies at multiple sites where different languages are spoken must rely on rather small sets of black-and-white or colored line drawings. These sets are increasingly experienced as being too limited. Therefore, we constructed a new set of 750 colored pictures of concrete concepts. This set, MultiPic, constitutes a new valuable tool for cognitive scientists investigating language, visual perception, memory and/or attention in monolingual or multilingual populations. Importantly, the MultiPic databank has been normed in six different European languages (British English, Spanish, French, Dutch, Italian and German). All stimuli and norms are freely available at http://www.bcbl.eu/databases/multipic

Abstract

Understanding cetacean distribution is essential for conservation planning and decision-making, particularly in regions subject to rapid environmental changes. Nevertheless, information on their spatiotemporal distribution is commonly limited, especially from remote areas. Species distribution models (SDMs) are powerful tools, relating species occurrences to environmental variables to predict the species' potential distribution. This study aims at using presence-only SDMs (MaxEnt) to identify suitable habitats for fin whales (Balaenoptera physalus) on their Nordic and Barents Seas feeding grounds. We used spatial-block cross-validation to tune MaxEnt parameters and evaluate model performance using spatially independent testing data. We considered spatial sampling bias correction using four methods. Important environmental variables were distance to shore and sea ice edge, variability of sea surface temperature and sea surface salinity, and depth. Suitable fin whale habitats were predicted along the west coast of Svalbard, between Svalbard and the eastern Norwegian Sea, coastal areas off Iceland and southern East Greenland, and along the Knipovich Ridge to Jan Mayen. Results support that presence-only SDMs are effective tools to predict cetacean habitat suitability, particularly in remote areas like the Arctic Ocean. SDMs constitute a cost-effective method for targeting future surveys and identifying top priority sites for conservation measures.

Abstract

The Core Trustworthy Data Repository Requirements were developed by the DSA–WDS Partnership Working Group on Repository Audit and Certification, a Working Group (WG) of the Research Data Alliance . The goal of the effort was to create a set of harmonized common requirements for certification of repositories at the core level, drawing from criteria already put in place by the Data Seal of Approval (DSA: www.datasealofapproval.org) and the ICSU World Data System (ICSU-WDS: https://www.icsu-wds.org/services/certification). An additional goal of the project was to develop common procedures to be implemented by both DSA and ICSU-WDS. Ultimately, the DSA and ICSU-WDS plan to collaborate on a global framework for repository certification that moves from the core to the extended (nestor-Seal DIN 31644), to the formal (ISO 16363) level.

Abstract

It is often argued that narratives improve social cognition, either by appealing to social-cognitive abilities as we engage with the story world and its characters, or by conveying social knowledge. Empirical studies have found support for both a correlational and a causal link between exposure to (literary, fictional) narratives and social cognition. However, a series of failed replications has cast doubt on the robustness of these claims. Here, we review the existing empirical literature and identify open questions and challenges. An important conclusion of the review is that previous research has given too little consideration to the diversity of narratives, readers, and social-cognitive processes involved in the social-cognitive potential of narratives. We therefore establish a research agenda, proposing that future research should focus on (1) the specific text characteristics that drive the social-cognitive potential of narratives, (2) the individual differences between readers with respect to their sensitivity to this potential, and (3) the various aspects of social cognition that are potentially affected by reading narratives. Our recommendations can guide the design of future studies that will help us understand how, for whom, and in what respect exposure to narratives can advantage social cognition.

Abstract

While the importance of mental simulation during literary reading has long been recognized, we know little about the factors that determine when, what, and how much readers mentally simulate. Here we investigate the influence of a specific text characteristic, namely verb tense (present vs. past), on mental simulation during literary reading. Verbs usually denote the actions and events that take place in narratives and hence it is hypothesized that verb tense will influence the amount of mental simulation elicited in readers. Although the present tense is traditionally considered to be more “vivid”, this study is one of the first to experimentally assess this claim. We recorded eye-movements while subjects read stories in the past or present tense and collected data regarding self-reported levels of mental simulation, transportation and appreciation. We found no influence of tense on any of the offline measures. The eye-tracking data showed a slightly more complex pattern. Although we did not find a main effect of sensorimotor simulation content on reading times, we were able to link the degree to which subjects slowed down when reading simulation eliciting content to offline measures of attention and transportation, but this effect did not interact with the tense of the story. Unexpectedly, we found a main effect of tense on reading times per word, with past tense stories eliciting longer first fixation durations and gaze durations. However, we were unable to link this effect to any of the offline measures. In sum, this study suggests that tense does not play a substantial role in the process of mental simulation elicited by literary stories.

Abstract

Predictive language processing is often studied by measuring eye movements as participants look at objects on a computer screen while they listen to spoken sentences. The use of this variant of the visual world paradigm has shown that information encountered by a listener at a spoken verb can give rise to anticipatory eye movements to a target object, which is taken to indicate that people predict upcoming words. The ecological validity of such findings remains questionable, however, because these computer experiments used two-dimensional (2D) stimuli that are mere abstractions of real world objects. Here we present a visual world paradigm study in a three-dimensional (3D) immersive virtual reality environment. Despite significant changes in the stimulus material and the different mode of stimulus presentation, language-mediated anticipatory eye movements were observed. These findings thus indicate prediction of upcoming words in language comprehension in a more naturalistic setting where natural depth cues are preserved. Moreover, the results confirm the feasibility of using eye-tracking in rich and multimodal 3D virtual environments.

Abstract

We present a dataset of behavioural and fMRI observations acquired in the context of humans involved in multimodal referential communication. The dataset contains audio/video and motion-tracking recordings of face-to-face, task-based communicative interactions in Dutch, as well as behavioural and neural correlates of participants’ representations of dialogue referents. Seventy-one pairs of unacquainted participants performed two interleaved interactional tasks in which they described and located 16 novel geometrical objects (i.e., Fribbles) yielding spontaneous interactions of about one hour. We share high-quality video (from three cameras), audio (from head-mounted microphones), and motion-tracking (Kinect) data, as well as speech transcripts of the interactions. Before and after engaging in the face-to-face communicative interactions, participants’ individual representations of the 16 Fribbles were estimated. Behaviourally, participants provided a written description (one to three words) for each Fribble and positioned them along 29 independent conceptual dimensions (e.g., rounded, human, audible). Neurally, fMRI signal evoked by each Fribble was measured during a one-back working-memory task. To enable functional hyperalignment across participants, the dataset also includes fMRI measurements obtained during visual presentation of eight animated movies (35 minutes total). We present analyses for the various types of data demonstrating their quality and consistency with earlier research. Besides high-resolution multimodal interactional data, this dataset includes different correlates of communicative referents, obtained before and after face-to-face dialogue, allowing for novel investigations into the relation between communicative behaviours and the representational space shared by communicators. This unique combination of data can be used for research in neuroscience, psychology, linguistics, and beyond.

Abstract

The use of spoken and written language is a fundamental human capacity. Individual differences in reading- and language-related skills are influenced by genetic variation, with twin-based heritability estimates of 30 to 80% depending on the trait. The genetic architecture is complex, heterogeneous, and multifactorial, but investigations of contributions of single-nucleotide polymorphisms (SNPs) were thus far underpowered. We present a multicohort genome-wide association study (GWAS) of five traits assessed individually using psychometric measures (word reading, nonword reading, spelling, phoneme awareness, and nonword repetition) in samples of 13,633 to 33,959 participants aged 5 to 26 y. We identified genome-wide significant association with word reading (rs11208009, P = 1.098 × 10−8) at a locus that has not been associated with intelligence or educational attainment. All five reading-/language-related traits showed robust SNP heritability, accounting for 13 to 26% of trait variability. Genomic structural equation modeling revealed a shared genetic factor explaining most of the variation in word/nonword reading, spelling, and phoneme awareness, which only partially overlapped with genetic variation contributing to nonword repetition, intelligence, and educational attainment. A multivariate GWAS of word/nonword reading, spelling, and phoneme awareness maximized power for follow-up investigation. Genetic correlation analysis with neuroimaging traits identified an association with the surface area of the banks of the left superior temporal sulcus, a brain region linked to the processing of spoken and written language. Heritability was enriched for genomic elements regulating gene expression in the fetal brain and in chromosomal regions that are depleted of Neanderthal variants. Together, these results provide avenues for deciphering the biological underpinnings of uniquely human traits.

Abstract

Migraine is a common disabling neurovascular brain disorder typically characterised by attacks of severe headache and associated with autonomic and neurological symptoms. Migraine is caused by an interplay of genetic and environmental factors. Genome-wide association studies (GWAS) have identified over a dozen genetic loci associated with migraine. Here, we integrated migraine GWAS data with high-resolution spatial gene expression data of normal adult brains from the Allen Human Brain Atlas to identify specific brain regions and molecular pathways that are possibly involved in migraine pathophysiology. To this end, we used two complementary methods. In GWAS data from 23,285 migraine cases and 95,425 controls, we first studied modules of co-expressed genes that were calculated based on human brain expression data for enrichment of genes that showed association with migraine. Enrichment of a migraine GWAS signal was found for five modules that suggest involvement in migraine pathophysiology of: (i) neurotransmission, protein catabolism and mitochondria in the cortex; (ii) transcription regulation in the cortex and cerebellum; and (iii) oligodendrocytes and mitochondria in subcortical areas. Second, we used the high-confidence genes from the migraine GWAS as a basis to construct local migraine-related co-expression gene networks. Signatures of all brain regions and pathways that were prominent in the first method also surfaced in the second method, thus providing support that these brain regions and pathways are indeed involved in migraine pathophysiology.

Abstract

Migraine is a common episodic brain disorder characterized by recurrent attacks of severe unilateral headache and additional neurological symptoms. Two main migraine types can be distinguished based on the presence of aura symptoms that can accompany the headache: migraine with aura and migraine without aura. Multiple genetic and environmental factors confer disease susceptibility. Recent genome-wide association studies (GWAS) indicate that migraine susceptibility genes are involved in various pathways, including neurotransmission, which have already been implicated in genetic studies of monogenic familial hemiplegic migraine, a subtype of migraine with aura. Methods To further explore the genetic background of migraine, we performed a gene set analysis of migraine GWAS data of 4954 clinic-based patients with migraine, as well as 13,390 controls. Curated sets of synaptic genes and sets of genes predominantly expressed in three glial cell types (astrocytes, microglia and oligodendrocytes) were investigated. Discussion Our results show that gene sets containing astrocyte- and oligodendrocyte-related genes are associated with migraine, which is especially true for gene sets involved in protein modification and signal transduction. Observed differences between migraine with aura and migraine without aura indicate that both migraine types, at least in part, seem to have a different genetic background.