Publications

Abstract

Despite of the different functions of pitch in tone and nontone languages, rises and falls are common pitch patterns across different languages. In the current study, we ask what is the language specific phonetic realization of rises and falls. Chinese and Dutch speakers participated in a production experiment. We used contexts composed for conveying specific communicative purposes to elicit rises and falls. We measured both tonal alignment and tonal scaling for both patterns. For the alignment measurements, we found language specific patterns for the rises, but for falls. For rises, both peak and valley were aligned later among Chinese speakers compared to Dutch speakers. For all the scaling measurements (maximum pitch, minimum pitch, and pitch range), no language specific patterns were found for either the rises or the falls

Abstract

We explore the role of the acoustic consequences of domain-initial strengthening in spoken-word recognition. In two cross-modal identity-priming experiments, listeners heard sentences and made lexical decisions to visual targets, presented at the onset of the second word in two-word sequences containing lexical ambiguities (e.g., bus tickets, with the competitor bust). These sequences contained Intonational Phrase (IP) or Prosodic Word (Wd) boundaries, and the second word's initial Consonant and Vowel (CV, e.g., [tI]) was spliced from another token of the sequence in IP- or Wd-initial position. Acoustic analyses showed that IP-initial consonants were articulated more strongly than Wd-initial consonants. In Experiment 1, related targets were post-boundary words (e.g., tickets). No strengthening effect was observed (i.e., identity priming effects did not vary across splicing conditions). In Experiment 2, related targets were pre-boundary words (e.g., bus). There was a strengthening effect (stronger priming when the post-boundary CVs were spliced from IP-initial than from Wd-initial position), but only in Wd-boundary contexts. These were the conditions where phonetic detail associated with domain-initial strengthening could assist listeners most in lexical disambiguation. We discuss how speakers may strengthen domain-initial segments during production and how listeners may use the resulting acoustic correlates of prosodic strengthening during word recognition.

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

Speakers use external auditory feedback to monitor their own speech. Feedback distortion has been found to increase activity in the superior temporal areas. Using fMRI, the present study investigates the neural correlates of processing verbal feedback without distortion. In a blocked design, the following conditions were presented: (1) overt picture-naming, (2) overt picture-naming while pink noise was presented to mask external feedback, (3) covert picture-naming, (4) listening to the picture names (previously recorded from participants' own voices), and (5) listening to pink noise. The results show that auditory feedback processing involves a network of different areas related to general performance monitoring and speech-motor control. These include the cingulate cortex and the bilateral insula, supplementary motor area, bilateral motor areas, cerebellum, thalamus and basal ganglia. Our findings suggest that the anterior cingulate cortex, which is often implicated in error-processing and conflict-monitoring, is also engaged in ongoing speech monitoring. Furthermore, in the superior temporal gyrus, we found a reduced response to speaking under normal feedback conditions. This finding is interpreted in the framework of a forward model according to which, during speech production, the sensory consequence of the speech-motor act is predicted to attenuate the sensitivity of the auditory cortex. Hum Brain Mapp 2007. © 2007 Wiley-Liss, Inc.

Abstract

This study addressed how bilingual speakers switch between their first and second language when speaking. Event-related brain potentials (ERPs) and naming latencies were measured while unbalanced German (L1)-Dutch (L2) speakers performed a picture-naming task. Participants named pictures either in their L1 or in their L2 (blocked language conditions), or participants switched between their first and second language unpredictably (mixed language condition). Furthermore, form similarity between translation equivalents (cognate status) was manipulated. A cognate facilitation effect was found for L1 and L2 indicating phonological activation of the non-response language in blocked and mixed language conditions. The ERP data also revealed small but reliable effects of cognate status. Language switching resulted in equal switching costs for both languages and was associated with a modulation in the ERP waveforms (time windows 275-375 ms and 375-475 ms). Mixed language context affected especially the L1, both in ERPs and in latencies, which became slower in L1 than L2. It is suggested that sustained and transient components of language control should be distinguished. Results are discussed in relation to current theories of bilingual language processing.

Abstract

The present study concerns individual differences in gesture production. We used correlational and multiple regression analyses to examine the relationship between individuals’ cognitive abilities and empathy levels and their gesture frequency and saliency. We chose predictor variables according to experimental evidence of the functions of gesture in speech production and communication. We examined 3 types of gestures: representational gestures, conduit gestures, and palm-revealing gestures. Higher frequency of representational gestures was related to poorer visual and spatial working memory, spatial transformation ability, and conceptualization ability; higher frequency of conduit gestures was related to poorer visual working memory, conceptualization ability, and higher levels of empathy; and higher frequency of palm-revealing gestures was related to higher levels of empathy. The saliency of all gestures was positively related to level of empathy. These results demonstrate that cognitive abilities and empathy levels are related to individual differences in gesture frequency and saliency

Abstract

Language and action systems are highly interlinked. A critical piece of evidence is that speech and its accompanying gestures are tightly synchronized. Five experiments were conducted to test 2 hypotheses about the synchronization of speech and gesture. According to the interactive view, there is continuous information exchange between the gesture and speech systems, during both their planning and execution phases. According to the ballistic view, information exchange occurs only during the planning phases of gesture and speech, but the 2 systems become independent once their execution has been initiated. In all experiments, participants were required to point to and/or name a light that had just lit up. Virtual reality and motion tracking technologies were used to disrupt their gesture or speech execution. Participants delayed their speech onset when their gesture was disrupted. They did so even when their gesture was disrupted at its late phase and even when they received only the kinesthetic feedback of their gesture. Also, participants prolonged their gestures when their speech was disrupted. These findings support the interactive view and add new constraints on models of speech and gesture production

Abstract

Koriat (1981) demonstrated that an association from the target to a preceding prime, in the absence of an association from the prime to the target, facilitates lexical decision and referred to this effect as "backward priming". Backward priming is of relevance, because it can provide information about the mechanism underlying semantic priming effects. Following Neely (1991), we distinguish three mechanisms of priming: spreading activation, expectancy, and semantic matching/integration. The goal was to determine which of these mechanisms causes backward priming, by assessing effects of backward priming on a language-relevant ERP component, the N400, and reaction time (RT). Based on previous work, we propose that the N400 priming effect reflects expectancy and semantic matching/integration, but in contrast with RT does not reflect spreading activation. Experiment 1 shows a backward priming effect that is qualitatively similar for the N400 and RT in a lexical decision task. This effect was not modulated by an ISI manipulation. Experiment 2 clarifies that the N400 backward priming effect reflects genuine changes in N400 amplitude and cannot be ascribed to other factors. We will argue that these backward priming effects cannot be due to expectancy but are best accounted for in terms of semantic matching/integration.

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

“Gesture-first” theories dismiss ancestral great apes’ vocalization as a substrate for language evolution based on the claim that extant apes exhibit minimal learning and volitional control of vocalization. Contrary to this claim, we present data of novel learned and voluntarily controlled vocal behaviors produced by a human-fostered gorilla (G. gorilla gorilla). These behaviors demonstrate varying degrees of flexibility in the vocal apparatus (including diaphragm, lungs, larynx, and supralaryngeal articulators), and are predominantly performed in coordination with manual behaviors and gestures. Instead of a gesture-first theory, we suggest that these findings support multimodal theories of language evolution in which vocal and gestural forms are coordinated and supplement one another

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

Interactive effects between allelic variants of the serotonin transporter (5-HTT) promoter-linked polymorphic region (5-HTTLPR) and stressors on depression symptoms have been documented, as well as questioned, by meta-analyses. Translational models of constitutive 5-htt reduction and experimentally controlled stressors often led to inconsistent behavioral and molecular findings and often did not include females. The present study sought to investigate the effect of 5-htt genotype, maternal separation, and sex on the expression of stress-related candidate genes in the rat hippocampus and frontal cortex. The mRNA expression levels of Avp, Pomc, Crh, Crhbp, Crhr1, Bdnf, Ntrk2, Maoa, Maob, and Comt were assessed in the hippocampus and frontal cortex of 5-htt ± and 5-htt +/+ male and female adult rats exposed, or not, to daily maternal separation for 180 min during the first 2 postnatal weeks. Gene- and brain region-dependent, but sex-independent, interactions between 5-htt genotype and maternal separation were found. Gene expression levels were higher in 5-htt +/+ rats not exposed to maternal separation compared with the other experimental groups. Maternal separation and 5-htt +/− genotype did not yield additive effects on gene expression. Correlative relationships, mainly positive, were observed within, but not across, brain regions in all groups except in non-maternally separated 5-htt +/+ rats. Gene expression patterns in the hippocampus and frontal cortex of rats exposed to maternal separation resembled the ones observed in rats with reduced 5-htt expression regardless of sex. These results suggest that floor effects of 5-htt reduction and maternal separation might explain inconsistent findings in humans and rodents

Abstract

Contemporary methods of computational cognitive modeling have recently been criticized by Addyman and French (2012) on the grounds that they have not kept up with developments in computer technology and human–computer interaction. They present a manifesto for change according to which, it is argued, modelers should devote more effort to making their models accessible, both to non-modelers (with an appropriate easy-to-use user interface) and modelers alike. We agree that models, like data, should be freely available according to the normal standards of science, but caution against confusing implementations with specifications. Models may embody theories, but they generally also include implementation assumptions. Cognitive modeling methodology needs to be sensitive to this. We argue that specification, replication and experimentation are methodological approaches that can address this issue.

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

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

Research suggests that during conversation, interlocutors coordinate their utterances by predicting the speaker’s forthcoming utterance and its end. In two experiments, we used a button-pressing task, in which participants pressed a button when they thought a speaker reached the end of their utterance, to investigate what role the wider discourse plays in turn-end prediction. Participants heard two-utterance sequences, in which the content of the second utterance was or was not constrained by the content of the first. In both experiments, participants responded earlier, but not more precisely, when the first utterance was constraining rather than unconstraining. Response times and precision were unaffected by whether they listened to dialogues or monologues (Experiment 1) and by whether they read the first utterance out loud or silently (Experiment 2), providing no indication that activation of production mechanisms facilitates prediction. We suggest that content predictions aid comprehension but not turn-end prediction.

Abstract

In three experiments, listeners detected vowel or consonant targets in lists of CV syllables constructed from five vowels and five consonants. Responses were faster in a predictable context (e.g., listening for a vowel target in a list of syllables all beginning with the same consonant) than in an unpredictable context (e.g., listening for a vowel target in a list of syllables beginning with different consonants). In Experiment 1, the listeners’ native language was Dutch, in which vowel and consonant repertoires are similar in size. The difference between predictable and unpredictable contexts was comparable for vowel and consonant targets. In Experiments 2 and 3, the listeners’ native language was Spanish, which has four times as many consonants as vowels; here effects of an unpredictable consonant context on vowel detection were significantly greater than effects of an unpredictable vowel context on consonant detection. This finding suggests that listeners’ processing of phonemes takes into account the constitution of their language’s phonemic repertoire and the implications that this has for contextual variability.

Abstract

Single nucleotide polymorphisms (SNPs) within the MIR137, TCF4, and ZNF804A genes show genome-wide association to schizophrenia. However, the biological basis for the associations is unknown. Here, we tested the effects of these genes on brain structure in 1300 healthy adults. Using volumetry and voxel-based morphometry, neither gene-wide effects—including the combined effect of the genes—nor single SNP effects—including specific psychosis risk SNPs—were found on total brain volume, grey matter, white matter, or hippocampal volume. These results suggest that the associations between these risk genes and schizophrenia are unlikely to be mediated via effects on macroscopic brain structure.

Abstract

This paper discusses some improvements in recent and planned versions of the multimodal annotation tool ELAN, which are targeted at improving the usability of annotated files. Increased support for multilingual documents is provided, by allowing for multilingual vocabularies and by specifying a language per document, annotation layer (tier) or annotation. In addition, improvements in the search possibilities and the display of the results have been implemented, which are especially relevant in the interpretation of the results of complex multi-tier searches.

Abstract

Collocations generated by concordancers are a standard instrument in the exploitation of text corpora for the analysis of language use. Multimodal corpora show similar types of patterns, activities that frequently occur together, but there is no tool that offers facilities for visualising such patterns. Examples include timing of eye contact with respect to speech, and the alignment of activities of the two hands in signed languages. This paper describes recent enhancements to the standard CLARIN tools ELAN and TROVA for multimodal annotation to address these needs: first of all the query and concordancing functions were improved, and secondly the tools now generate visualisations of multilayer collocations that allow for intuitive explorations and analyses of multimodal data. This will provide a boost to the linguistic fields of gesture and sign language studies, as it will improve the exploitation of multimodal corpora.

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

The present study investigated the neural correlates of infant discrimination of very similar linguistic varieties (Quebecois and Parisian French) using functional Near InfraRed Spectroscopy. In line with previous behavioral and electrophysiological data, there was no evidence that 3-month-olds discriminated the two regional accents, whereas 5-month-olds did, with the locus of discrimination in left anterior perisylvian regions. These neuroimaging results suggest that a developing language network relying crucially on left perisylvian cortices sustains infants' discrimination of similar linguistic varieties within this early period of infancy.

Abstract

Speaker diarization (answering 'who spoke when') is a widely researched subject within speech technology. Numerous experiments have been run on datasets built from broadcast news, meeting data, and call centers—the task sometimes appears close to being solved. Much less work has begun to tackle the hardest diarization task of all: spontaneous conversations in real-world settings. Such diarization would be particularly useful for studies of language acquisition, where researchers investigate the speech children produce and hear in their daily lives. In this paper, we study audio gathered with a recorder worn by small children as they went about their normal days. As a result, each child was exposed to different acoustic environments with a multitude of background noises and a varying number of adults and peers. The inconsistency of speech and noise within and across samples poses a challenging task for speaker diarization systems, which we tackled via retraining and data augmentation techniques. We further studied sources of structured variation across raw audio files, including the impact of speaker type distribution, proportion of speech from children, and child age on diarization performance. We discuss the extent to which these findings might generalize to other samples of speech in the wild.

Abstract

There are increasing reports that individual variation in behavioral and neurophysiological measures of infant speech processing predicts later language outcomes, and specifically concurrent or subsequent vocabulary size. If such findings are held up under scrutiny, they could both illuminate theoretical models of language development and contribute to the prediction of communicative disorders. A qualitative, systematic review of this emergent literature illustrated the variety of approaches that have been used and highlighted some conceptual problems regarding the measurements. A quantitative analysis of the same data established that the bivariate relation was significant, with correlations of similar strength to those found for well-established nonlinguistic predictors of language. Further exploration of infant speech perception predictors, particularly from a methodological perspective, is recommended.

Abstract

Typically, the point vowels [i,ɑ,u] are acoustically more peripheral in infant-directed speech (IDS) compared to adult-directed speech (ADS). If caregivers seek to highlight lexically relevant contrasts in IDS, then two sounds that are contrastive should become more distinct, whereas two sounds that are surface realizations of the same underlying sound category should not. To test this prediction, vowels that are phonemically contrastive ([i-ɪ] and [eɪ-ε]), vowels that map onto the same underlying category ([æ- ] and [ε- ]), and the point vowels [i,ɑ,u] were elicited in IDS and ADS by American English mothers of two age groups of infants (four- and eleven-month-olds). As in other work, point vowels were produced in more peripheral positions in IDS compared to ADS. However, there was little evidence of hyperarticulation per se (e.g. [i-ɪ] was hypoarticulated). We suggest that across-the-board lexically based hyperarticulation is not a necessary feature of IDS.

Abstract

When we imagine objects or events, we often engage in multisensory mental imagery. Yet, investigations of mental imagery have typically focused on only one sensory modality — vision. One reason for this is that the most common tool for the measurement of imagery, the questionnaire, has been restricted to unimodal ratings of the object. We present a new mental imagery questionnaire that measures multisensory imagery. Specifically, the newly developed Vividness of Wine Imagery Questionnaire (VWIQ) measures mental imagery of wine in the visual, olfactory, and gustatory modalities. Wine is an ideal domain to explore multisensory imagery because wine drinking is a multisensory experience, it involves the neglected chemical senses (smell and taste), and provides the opportunity to explore the effect of experience and expertise on imagery (from wine novices to experts). The VWIQ questionnaire showed high internal consistency and reliability, and correlated with other validated measures of imagery. Overall, the VWIQ may serve as a useful tool to explore mental imagery for researchers, as well as individuals in the wine industry during sommelier training and evaluation of wine professionals.

Abstract

In the wild, chimpanzees (Pan troglodytes) are often faced with clumped food resources that they may know how to access but abstain from doing so due to social pressures. To better understand how social settings influence resource acquisition, we tested fifteen semi-wild chimpanzees from two social groups alone and in the presence of others. We investigated how resource acquisition was affected by relative social dominance, whether collaborative problem solving or (active or passive) sharing occurred amongst any of the dyads, and whether these outcomes were related to relationship quality as determined from six months of observational data. Results indicated that chimpanzees, regardless of rank, obtained fewer rewards when tested in the presence of others compared to when they were tested alone. Chimpanzees demonstrated behavioral inhibition; chimpanzees who showed proficient skill when alone often abstained from solving the task when in the presence of others. Finally, individuals with close social relationships spent more time together in the problem solving space, but collaboration and sharing were infrequent and sessions in which collaboration or sharing did occur contained more instances of aggression. Group living provides benefits and imposes costs, and these findings highlight that one cost of group living may be diminishing productive individual behaviors.

Abstract

Recent debates have questioned the extent to which culturally-transmitted norms drive behavioral variation in resource sharing across human populations. We shed new light on this discussion by examining the group-level variation in the social dynamics and resource sharing of chimpanzees, a species that is highly social and forms long-term community associations but differs from humans in the extent to which cultural norms are adopted and enforced. We rely on theory developed in primate socioecology to guide our investigation in four neighboring chimpanzee groups at a sanctuary in Zambia. We used a combination of experimental and observational approaches to assess the distribution of resource holding potential in each group. In the first assessment, we measured the proportion of the population that gathered in a resource-rich zone, in the second we assessed naturally occurring social spacing via social network analysis, and in the third we assessed the degree to which benefits were equally distributed within the group. We report significant, stable group-level variation across these multiple measures, indicating that group-level variation in resource sharing and social tolerance is not necessarily reliant upon human-like cultural norms.

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

We report associations between vowel sounds, graphemes, and colours collected online from over 1000 Dutch speakers. We provide open materials including a Python implementation of the structure measure, and code for a single page web application to run simple cross-modal tasks. We also provide a full dataset of colour-vowel associations from 1164 participants, including over 200 synaesthetes identified using consistency measures. Our analysis reveals salient patterns in cross-modal associations, and introduces a novel measure of isomorphism in cross-modal mappings. We find that while acoustic features of vowels significantly predict certain mappings (replicating prior work), both vowel phoneme category and grapheme category are even better predictors of colour choice. Phoneme category is the best predictor of colour choice overall, pointing to the importance of phonological representations in addition to acoustic cues. Generally, high/front vowels are lighter, more green, and more yellow than low/back vowels. Synaesthetes respond more strongly on some dimensions, choosing lighter and more yellow colours for high and mid front vowels than non-synaesthetes. We also present a novel measure of cross-modal mappings adapted from ecology, which uses a simulated distribution of mappings to measure the extent to which participants' actual mappings are structured isomorphically across modalities. Synaesthetes have mappings that tend to be more structured than non-synaesthetes, and more consistent colour choices across trials correlate with higher structure scores. Nevertheless, the large majority (~70%) of participants produce structured mappings, indicating that the capacity to make isomorphically structured mappings across distinct modalities is shared to a large extent, even if the exact nature of mappings varies across individuals. Overall, this novel structure measure suggests a distribution of structured cross-modal association in the population, with synaesthetes on one extreme and participants with unstructured associations on the other.

Abstract

Part of the remarkable efficiency of listening is
accommodation to unfamiliar talkers’ specific
pronunciations by retuning of phonemic intercategory
boundaries. Such retuning occurs in second
(L2) as well as first language (L1); however, recent
research with emigrés revealed successful adaptation
in the environmental L2 but, unprecedentedly, not in
L1 despite continuing L1 use. A possible explanation
involving relative exposure to novel talkers is here
tested in heritage language users with Mandarin as
family L1 and English as environmental language. In
English, exposure to an ambiguous sound in
disambiguating word contexts prompted the expected
adjustment of phonemic boundaries in subsequent
categorisation. However, no adjustment occurred in
Mandarin, again despite regular use. Participants
reported highly asymmetric interlocutor counts in the
two languages. We conclude that successful retuning
ability requires regular exposure to novel talkers in
the language in question, a criterion not met for the
emigrés’ or for these heritage users’ L1.

Abstract

Assimilation of place of articulation across a nasal and a following stop consonant is obligatory in Japanese, but not in Dutch. In four experiments the processing of assimilated forms by speakers of Japanese and Dutch was compared, using a task in which listeners blended pseudo-word pairs such as ranga-serupa. An assimilated blend of this pair would be rampa, an unassimilated blend rangpa. Japanese listeners produced significantly more assimilated than unassimilated forms, both with pseudo-Japanese and pseudo-Dutch materials, while Dutch listeners produced significantly more unassimilated than assimilated forms in each materials set. This suggests that Japanese listeners, whose native-language phonology involves obligatory assimilation constraints, represent the assimilated nasals in nasal-stop sequences as unmarked for place of articulation, while Dutch listeners, who are accustomed to hearing unassimilated forms, represent the same nasal segments as marked for place of articulation.

Abstract

In two experiments, Mandarin listeners resolved potential syntactic ambiguities in spoken utterances in (a) their native language (L1) and (b) English which they had learned as a second language (L2). A new disambiguation task was used, requiring speeded responses to select the correct meaning for structurally ambiguous sentences. Importantly, the ambiguities used in the study are identical in Mandarin and in English, and production data show that prosodic disambiguation of this type of ambiguity is also realised very similarly in the two languages. The perceptual results here showed however that listeners’ response patterns differed for L1 and L2, although there was a significant increase in similarity between the two response patterns with increasing exposure to the L2. Thus identical ambiguity and comparable disambiguation patterns in L1 and L2 do not lead to immediate application of the appropriate L1 listening strategy to L2; instead, it appears that such a strategy may have to be learned anew for the L2.

Abstract

The lexicon, considered as a component of the process of recognizing speech, is a device that accepts a sound image as input and outputs meaning. Lexical access is the process of formulating an appropriate input and mapping it onto an entry in the lexicon's store of sound images matched with their meanings. This chapter addresses the problems of auditory lexical access from continuous speech. The central argument to be proposed is that utterance prosody plays a crucial role in the access process. Continuous listening faces problems that are not present in visual recognition (reading) or in noncontinuous recognition (understanding isolated words). Aspects of utterance prosody offer a solution to these particular problems.

Abstract

Using a phoneme detection task, the present series of
experiments examines whether listeners can entrain to
different combinations of prosodic cues to predict where focus
will fall in an utterance. The stimuli were recorded by four
female native speakers of Australian English who happened to
have used different prosodic cues to produce sentences with
prosodic focus: a combination of duration cues, mean and
maximum F0, F0 range, and longer pre-target interval before
the focused word onset, only mean F0 cues, only pre-target
interval, and only duration cues. Results revealed that listeners
can entrain in almost every condition except for where
duration was the only reliable cue. Our findings suggest that
listeners are flexible in the cues they use for focus processing.

Abstract

Dutch listeners outperform native listeners in identifying syllable stress in English. This is because lexical stress is more useful in recognition of spoken words of Dutch than of English, so that Dutch listeners pay greater attention to stress in general. We examined Dutch listeners’ use of the acoustic correlates of English stress. Primary- and secondary-stressed syllables differ significantly on acoustic measures, and some differences, in F0 especially, correlate with data of earlier listening experiments. The correlations found in the Dutch responses were not paralleled in data from native listeners. Thus the acoustic cues which distinguish English primary versus secondary stress are better exploited by Dutch than by native listeners.

Abstract

In contrast to initial L1 vocabularies, which of necessity depend largely on heard exemplars, L2 vocabulary construction can draw on a variety of knowledge sources. This can lead to richer stored knowledge about the phonology of the L2 than the listener's prelexical phonetic processing capacity can support, and thus to mismatch between the level of detail required for accurate lexical mapping and the level of detail delivered by the prelexical processor. Experiments on spoken word recognition in L2 have shown that phonetic contrasts which are not reliably perceived are represented in the lexicon nonetheless. This lexical representation of contrast must be based on abstract knowledge, not on veridical representation of heard exemplars. New experiments confirm that provision of abstract knowledge (in the form of spelling) can induce lexical representation of a contrast which is not reliably perceived; but also that experience (in the form of frequency of occurrence) modulates the mismatch of phonetic and lexical processing. We conclude that a correct account of word recognition in L2 (as indeed in L1) requires consideration of both abstract and episodic information.

Abstract

The difficulty of listening to speech in noise is exacerbated when the speech is in the listener’s L2 rather than L1. In this study, Spanish and Dutch users of English as an L2 identified American English consonants in a constant intervocalic context. Their performance was compared with that of L1 (British English) listeners, under quiet conditions and when the speech was masked by speech from another talker or by noise. Masking affected performance more for the Spanish listeners than for the L1 listeners, but not for the Dutch listeners, whose performance was worse than the L1 case to about the same degree in all conditions. There were, however,large differences in the pattern of results across individual consonants, which were consistent with differences in how consonants are identified in the respective L1s.

Abstract

Listeners adapt rapidly to previously unheard talkers by
adjusting phoneme categories using lexical knowledge, in a
process termed lexically-guided perceptual learning. Although
this is firmly established for listening in the native language
(L1), perceptual flexibility in second languages (L2) is as yet
less well understood. We report two experiments examining L1
and L2 perceptual learning, the first in Mandarin-English late
bilinguals, the second in Australian learners of Mandarin. Both
studies showed stronger learning in L1; in L2, however,
learning appeared for the English-L1 group but not for the
Mandarin-L1 group. Phonological mapping differences from
the L1 to the L2 are suggested as the reason for this result.

Abstract

Languages contain tens of thousands of words, but these are constructed from a tiny handful of phonetic elements. Consequently, words resemble one another, or can be embedded within one another, a coup stick snot with standing. me process of spoken-word recognition by human listeners involves activation of multiple word candidates consistent with the input, and direct competition between activated candidate words. Further, human listeners are sensitive, at an early, prelexical, stage of speeeh processing, to constraints on what could potentially be a word of the language.

Abstract

Speech signals originate as a sequence of linguistic units selected by speakers, but these units are necessarily realised in the suprasegmental dimensions of time, frequency and amplitude. For this reason prosodic structure has been viewed as a mandatory target of language processing by both speakers and listeners. In apparent contradiction, however, prosody has also been argued to be ancillary rather than core linguistic structure, making processing of prosodic structure essentially optional. In the present tribute to one of the luminaries of prosodic research for the past quarter century, we review evidence from studies of the processing of lexical stress and focal accent which reconciles these views and shows that both claims are, each in their own way, fully true.

Abstract

Vocabularies contain hundreds of thousands of words built from only a handful of phonemes; longer words inevitably tend to contain shorter ones. Recognising speech thus requires distinguishing intended words from accidentally present ones. Acoustic information in speech is used wherever it contributes significantly to this process; but as this review shows, its contribution differs across languages, with the consequences of this including: identical and equivalently present information distinguishing the same phonemes being used in Polish but not in German, or in English but not in Italian; identical stress cues being used in Dutch but not in English; expectations about likely embedding patterns differing across English, French, Japanese.

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

Listeners' recognition of spoken language involves complex decoding processes: The continuous speech stream must be segmented into its component words, and words must be recognized despite great variability in their pronunciation (due to talker differences, or to influence of phonetic context, or to speech register) and despite competition from many spuriously present forms supported by the speech signal. L1 listeners deal more readily with all levels of this complexity than L2 listeners. Fortunately, the decoding processes necessary for competent L2 listening can be taught in the classroom. Evidence-based methodologies targeted at the development of efficient speech decoding include teaching of minimal pairs, of phonotactic constraints, and of reduction processes, as well as the use of dictation and L2 video captions.

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 three experiments, we examined how word boundaries are produced in deliberately clear speech. We found that speakers do indeed attempt to mark word boundaries; moreover, they differentiate between word boundaries in a way which suggests they are sensitive to listener needs. Application of heuristic segmentation strategies makes word boundaries before strong syllables easiest for listeners to perceive; but under difficult listening conditions speakers pay more attention to marking word boundaries before weak syllables, i.e. they mark those boundaries which are otherwise particularly hard to perceive.

Abstract

The phoneme detection task is widely used in spoken word recognition research. Alphabetically literate participants, however, are more used to explicit representations of letters than of phonemes. The present study explored whether phoneme detection is sensitive to how target phonemes are, or may be, orthographically realised. Listeners detected the target sounds [b,m,t,f,s,k] in word-initial position in sequences of isolated English words. Response times were faster to the targets [b,m,t], which have consistent word-initial spelling, than to the targets [f,s,k], which are inconsistently spelled, but only when listeners’ attention was drawn to spelling by the presence in the experiment of many irregularly spelled fillers. Within the inconsistent targets [f,s,k], there was no significant difference between responses to targets in words with majority and minority spellings. We conclude that performance in the phoneme detection task is not necessarily sensitive to orthographic effects, but that salient orthographic manipulation can induce such sensitivity.

Abstract

Two lexical decision experiments in Cantonese are described in which the recognition of spoken target words as a function of phonological similarity to a preceding prime is investigated. Phonological similaritv in first syllables produced inhibition, while similarity in second syllables led to facilitation. Differences between syllables in tonal and segmental structure had generally similar effects.

Abstract

This chapter highlights that most language behavior consists of speaking and listening. The chapter also reveals differences and similarities between speaking and listening. The laboratory study of word production raises formidable problems; ensuring that a particular word is produced may subvert the spontaneous production process. Word production is investigated via slips and tip-of-the-tongue (TOT), primarily via instances of processing failure and via the technique of via the picture-naming task. The methodology of word production is explained in the chapter. The chapter also explains the phenomenon of interaction between various stages of word production and the process of speech recognition. In this context, it explores the difference between sound and meaning and examines whether or not the comparisons are appropriate between the processes of recognition and production of spoken words. It also describes the similarities and differences in the structure of the recognition and production systems. Finally, the chapter highlights the common issues in recognition and production research, which include the nuances of frequency of occurrence, morphological structure, and phonological structure.

Abstract

In languages with variable stress placement, lexical stress patterns can convey information about word identity. The experiments reported here address the question of whether lexical stress information can be used in word recognition. The results allow the following conclusions: 1. Prior information as to the number of syllables and lexical stress patterns of words and nonwords does not facilitate lexical decision responses (Experiment 1). 2. The strong correspondences between grammatical category membership and stress pattern in bisyllabic English words (strong-weak stress being associated primarily with nouns, weak-strong with verbs) are not exploited in the recognition of isolated words (Experiment 2). 3. When a change in lexical stress also involves a change in vowel quality, i.e., a segmental as well as a suprasegmental alteration, effects on word recognition are greater when no segmental correlates of suprasegmental changes are involved (Experiments 2 and 3). 4. Despite the above finding, when all other factors are controlled, lexical stress information per se can indeed be shown to play a part in word-recognition process (Experiment 3).

Abstract

Two experiments examined the dynamics of lexical activation in spoken-word recognition. In both, the key materials were pairs of onset-matched picturable nouns varying in frequency. Pictures associated with these words, plus two distractor pictures were displayed. A gating task, in which participants identified the picture associated with gradually lengthening fragments of spoken words, examined the availability of discriminating cues in the speech waveforms for these pairs. There was a clear frequency bias in participants’ responses to short, ambiguous fragments, followed by a temporal window in which discriminating information gradually became available. A visual-world experiment examined speech contingent eye movements. Fixation analyses suggested that frequency influences lexical competition well beyond the point in the speech signal at which the spoken word has been fully discriminated from its competitor (as identified using gating). Taken together, these data support models in which the processing dynamics of lexical activation are a limiting factor on recognition speed, over and above the temporal unfolding of the speech signal.

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

Different linguistic structures allow us to highlight distinct aspects of a situation. The aim of this survey is to investigate similarities and differences in the expression of situations or events as “stative” (maintaining a state), “inchoative” (adopting a state) and “agentive” (causing something to be in a state). The questionnaire focuses on the encoding of stative, inchoative and agentive possibilities for the translation equivalents of a set of English verbs.

Abstract

Expressions of human activities and states are a rich area for cross-linguistic comparison. Some languages of the world treat human posture verbs (e.g., sit, lie, kneel) as a special class of predicates, with distinct formal properties. This survey examines lexical, semantic and grammatical patterns for posture verbs, with special reference to contrasts between “stative” (maintaining a posture), “inchoative” (adopting a posture), and “agentive” (causing something to adopt a posture) constructions. The enquiry is thematically linked to the more general questionnaire 'Intransitive Predicate Form Class Survey'.

Abstract

This work was supported by grants from the French Agence Nationale de la Recherche (ANR-2010-BLAN-1901) and from French Fondation de France to Anne Christophe, from the National Institute of Child Health and Human Development (HD054448) to Cynthia Fisher, Fondation Fyssen and Ecole de Neurosciences de Paris to Alex Cristia, and a PhD fellowship from the Direction Générale de l'Armement (DGA, France) supported by the PhD program FdV (Frontières du Vivant) to Isabelle Dautriche. We thank Isabelle Brunet for the recruitment, Michel Dutat for the technical support, and Hernan Anllo for his puppet mastery skill. We are grateful to the families that participated in this study. We also thank two anonymous reviewers for their comments on an earlier draft of this manuscript.

Abstract

The relationship between semantic and grammatical processing in sentence comprehension was investigated by examining event-related potential (ERP) and event-related power changes in response to semantic and grammatical violations. Sentences with semantic, phrase structure, or number violations and matched controls were presented serially (1.25 words/s) to 20 participants while EEG was recorded. Semantic violations were associated with an N400 effect and a theta band increase in power, while grammatical violations were associated with a P600 effect and an alpha/beta band decrease in power. A quartile analysis showed that for both types of violations, larger average violation effects were associated with lower relative amplitudes of oscillatory activity, implying an inverse relation between ERP amplitude and event-related power magnitude change in sentence processing.

Abstract

This article surveys what is currently known about the complex interplay between genetics and the language sciences. It focuses not only on the genetic architecture of language and speech, but also on their interactions on the cultural and evolutionary timescales. Given the complexity of these issues and their current state of flux and high dynamism, this article surveys the main findings and topics of interest while also briefly introducing the main relevant methods, thus allowing the interested reader to fully appreciate and understand them in their proper context. Of course, not all the relevant publications and resources are mentioned, but this article aims to select the most relevant, promising, or accessible for nonspecialists.

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

The correlations between interpopulation genetic and linguistic diversities are mostly noncausal (spurious), being due to historical processes and geographical factors that shape them in similar ways. Studies of such correlations usually consider allele frequencies and linguistic groupings (dialects, languages, linguistic families or phyla), sometimes controlling for geographic, topographic, or ecological factors. Here, we consider the relation between allele frequencies and linguistic typological features. Specifically, we focus on the derived haplogroups of the brain growth and development-related genes ASPM and Microcephalin, which show signs of natural selection and a marked geographic structure, and on linguistic tone, the use of voice pitch to convey lexical or grammatical distinctions. We hypothesize that there is a relationship between the population frequency of these two alleles and the presence of linguistic tone and test this hypothesis relative to a large database (983 alleles and 26 linguistic features in 49 populations), showing that it is not due to the usual explanatory factors represented by geography and history. The relationship between genetic and linguistic diversity in this case may be causal: certain alleles can bias language acquisition or processing and thereby influence the trajectory of language change through iterated cultural transmission.

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

This paper argues that inter-individual and inter-group variation in language acquisition, perception, processing and production, rooted in our biology, may play a largely neglected role in sound change. We begin by discussing the patterning of these differences, highlighting those related to vocal tract anatomy with a foundation in genetics and development. We use our ArtiVarK database, a large multi-ethnic sample comprising 3D intraoral optical scans, as well as structural, static and real-time MRI scans of vocal tract anatomy and speech articulation, to quantify the articulatory strategies used to produce the North American English /r/ and to statistically show that anatomical factors seem to influence these articulatory strategies. Building on work showing that these alternative articulatory strategies may have indirect coarticulatory effects, we propose two models for how biases due to variation in vocal tract anatomy may affect sound change. The first involves direct overt acoustic effects of such biases that are then reinterpreted by the hearers, while the second is based on indirect coarticulatory phenomena generated by acoustically covert biases that produce overt “at-a-distance” acoustic effects. This view implies that speaker communities might be “poised” for change because they always contain pools of “standing variation” of such biased speakers, and when factors such as the frequency of the biased speakers in the community, their positions in the communicative network or the topology of the network itself change, sound change may rapidly follow as a self-reinforcing network-level phenomenon, akin to a phase transition. Thus, inter-speaker variation in structured and dynamic communicative networks may couple the initiation and actuation of sound change.

Abstract

Linguistic diversity is affected by multiple factors, but it is usually assumed that variation in the anatomy of our speech organs
plays no explanatory role. Here we use realistic computer models of the human speech organs to test whether inter-individual
and inter-group variation in the shape of the hard palate (the bony roof of the mouth) affects acoustics of speech sounds. Based
on 107 midsagittal MRI scans of the hard palate of human participants, we modelled with high accuracy the articulation of a set
of five cross-linguistically representative vowels by agents learning to produce speech sounds. We found that different hard
palate shapes result in subtle differences in the acoustics and articulatory strategies of the produced vowels, and that these
individual-level speech idiosyncrasies are amplified by the repeated transmission of language across generations. Therefore,
we suggest that, besides culture and environment, quantitative biological variation can be amplified, also influencing language.

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

Attention deficit/hyperactivity disorder (ADHD) is a highly heritable childhood behavioral disorder affecting 5% of children and 2.5% of adults. Common genetic variants contribute substantially to ADHD susceptibility, but no variants have been robustly associated with ADHD. We report a genome-wide association meta-analysis of 20,183 individuals diagnosed with ADHD and 35,191 controls that identifies variants surpassing genome-wide significance in 12 independent loci, finding important new information about the underlying biology of ADHD. Associations are enriched in evolutionarily constrained genomic regions and loss-of-function intolerant genes and around brain-expressed regulatory marks. Analyses of three replication studies: a cohort of individuals diagnosed with ADHD, a self-reported ADHD sample and a meta-analysis of quantitative measures of ADHD symptoms in the population, support these findings while highlighting study-specific differences on genetic overlap with educational attainment. Strong concordance with GWAS of quantitative population measures of ADHD symptoms supports that clinical diagnosis of ADHD is an extreme expression of continuous heritable traits.

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

Next-generation sequencing recently revealed that recurrent disruptive mutations in a few genes may account for 1% of sporadic autism cases. Coupling these novel genetic data to empirical assays of protein function can illuminate crucial molecular networks. Here we demonstrate the power of the approach, performing the first functional analyses of TBR1 variants identified in sporadic autism. De novo truncating and missense mutations disrupt multiple aspects of TBR1 function, including subcellular localization, interactions with co-regulators and transcriptional repression. Missense mutations inherited from unaffected parents did not disturb function in our assays. We show that TBR1 homodimerizes, that it interacts with FOXP2, a transcription factor implicated in speech/language disorders, and that this interaction is disrupted by pathogenic mutations affecting either protein. These findings support the hypothesis that de novo mutations in sporadic autism have severe functional consequences. Moreover, they uncover neurogenetic mechanisms that bridge different neurodevelopmental disorders involving language deficits.

Abstract

Assays based on Bioluminescence Resonance Energy Transfer (BRET) provide a sensitive and reliable means to monitor protein-protein interactions in live cells. BRET is the non-radiative transfer of energy from a ‘donor’ luciferase enzyme to an ‘acceptor’ fluorescent protein. In the most common configuration of this assay, the donor is Renilla reniformis luciferase and the acceptor is Yellow Fluorescent Protein (YFP). Because the efficiency of energy transfer is strongly distance-dependent, observation of the BRET phenomenon requires that the donor and acceptor be in close proximity. To test for an interaction between two proteins of interest in cultured mammalian cells, one protein is expressed as a fusion with luciferase and the second as a fusion with YFP. An interaction between the two proteins of interest may bring the donor and acceptor sufficiently close for energy transfer to occur. Compared to other techniques for investigating protein-protein interactions, the BRET assay is sensitive, requires little hands-on time and few reagents, and is able to detect interactions which are weak, transient, or dependent on the biochemical environment found within a live cell. It is therefore an ideal approach for confirming putative interactions suggested by yeast two-hybrid or mass spectrometry proteomics studies, and in addition it is well-suited for mapping interacting regions, assessing the effect of post-translational modifications on protein-protein interactions, and evaluating the impact of mutations identified in patient DNA.

Abstract

Retinoic acid-related orphan receptor alpha gene (RORa) and the microRNA MIR137 have both recently been identified as novel candidate genes for neuropsychiatric disorders. RORa encodes a ligand-dependent orphan nuclear receptor that acts as a transcriptional regulator and miR-137 is a brain enriched small non-coding RNA that interacts with gene transcripts to control protein levels. Given the mounting evidence for RORa in autism spectrum disorders (ASD) and MIR137 in schizophrenia and ASD, we investigated if there was a functional biological relationship between these two genes. Herein, we demonstrate that miR-137 targets the 3'UTR of RORa in a site specific manner. We also provide further support for MIR137 as an autism candidate by showing that a large number of previously implicated autism genes are also putatively targeted by miR-137. This work supports the role of MIR137 as an ASD candidate and demonstrates a direct biological link between these previously unrelated autism candidate genes

Abstract

FOXP2 was the first gene shown to cause a Mendelian form of speech and language disorder. Although developmentally expressed in many organs, loss of a single copy of FOXP2 leads to a phenotype that is largely restricted to orofacial impairment during articulation and linguistic processing deficits. Why perturbed FOXP2 function affects specific aspects of the developing brain remains elusive. We investigated the role of FOXP2 in neuronal differentiation and found that FOXP2 drives molecular changes consistent with neuronal differentiation in a human model system. We identified a network of FOXP2 regulated genes related to retinoic acid signaling and neuronal differentiation. FOXP2 also produced phenotypic changes associated with neuronal differentiation including increased neurite outgrowth and reduced migration. Crucially, cells expressing FOXP2 displayed increased sensitivity to retinoic acid exposure. This suggests a mechanism by which FOXP2 may be able to increase the cellular differentiation response to environmental retinoic acid cues for specific subsets of neurons in the brain. These data demonstrate that FOXP2 promotes neuronal differentiation by interacting with the retinoic acid signaling pathway and regulates key processes required for normal circuit formation such as neuronal migration and neurite outgrowth. In this way, FOXP2, which is found only in specific subpopulations of neurons in the brain, may drive precise neuronal differentiation patterns and/or control localization and connectivity of these FOXP2 positive cells

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

This chapter discusses the genetic foundations of the human capacity for language. It reviews the molecular structure of the genome and the complex molecular mechanisms that allow genetic information to influence multiple levels of biology. It goes on to describe the active regulation of genes and their formation of complex genetic pathways that in turn control the cellular environment and function. At each of these levels, examples of genes and genetic variants that may influence the human capacity for language are given. Finally, it discusses the value of using animal models to understand the genetic underpinnings of speech and language. From this chapter will emerge the complexity of the genome in action and the multidisciplinary efforts that are currently made to bridge the gap between genetics and language.