Publications

Abstract

A Cross-Modal Priming experiment investigated Dutch
listeners’ perception of English words. Target words were
embedded in a carrier word (e.g., cat in catalogue) or ‘almost
embedded’ in a carrier word except for a mismatch in the
perceptually difficult /æ/-/ε/ contrast (e.g., cat in kettle).
Previous results showed a bias towards perception of /ε/ over
/æ/. The present study shows that presentation of carrier
words either containing an /æ/ or an /ε/ led to long lasting
inhibition of embedded or ‘almost embedded’ words with an
/æ/, but not of words with an /ε/. Thus, both catalogue and
kettle hindered recognition of cat, whereas neither schedule
nor shadow hindered recognition of shed.

Abstract

This paper focuses on ‘minimality’ in initial references to persons in the Mayan language Tzeltal, spoken in southern Mexico. Inspection of initial person-referring expressions in 25 Tzeltal videotaped conversations reveals that, in this language, if speaker and/or recipient are related through ‘kinship’ to the referent, a kin term (or other relational term like ‘namesake’) is the default option for initial reference to persons. Additionally, further specification via names and/or geographical location (of home base) is also often used to home in on the referent (e.g. ‘your-cousin Alonzo’, ‘our mother’s brother behind the mountain’). And often (~ 70 cases in the data examined) initial references to persons combine more than one referring expression, for example: ‘this old man my brother-in-law old man Antonio here in the pines’, or ‘the father of that brother-in-law of yours the father-in-law of your elder-sister Xmaruch’. Seen in the light of Schegloff’s (1979, 1996) two basic preferences for referring to persons in conversation: (i.) for a recognitional form and (ii.) for a minimal form, these Tzeltal person-referring expressions seem to be relatively elaborated. This paper examines the sequential contexts where such combinations appear, and proposes a third preference operative in Tzeltal (and possibly in other kinship-term-based systems) for associating the referent as closely as possible to the participants.

Abstract

From the perspective of a Kantian belief in the fundamental human tendency to cleave space along the three planes of the human body, Tenejapan Tzeltal exhibits a linguistic gap: there are no linguistic expressions that designate regions (as in English to my left) or describe the visual field (as in to the left of the tree) on the basis of a plane bisecting the body into a left and right side. Tenejapans have expressions for left and right hands (xin k'ab and wa'el k'ab), but these are basically body-part terms, they are not generalized to form a division of space. This paper describes the results of various elicited producton tasks in which concepts of left and right would provide a simple solution, showing that Tenejapan consultants use other notions even when the relevant linguistic distinctions could be made in Tzeltal (e.g. describing the position of one's limbs, or describing rotation of one's body). Instead of using the left-hand/right-hand distinction to construct a division of space, Tenejapans utilize a number of other systems: (i) an absolute, 'cardinal direction' system, supplemented by reference to other geographic or landmark directions, (ii) a generative segmentation of objects and places into analogic body-parts or other kinds of parts, and (iii) a rich system of positional adjectives to describe the exact disposition of things. These systems work conjointly to specify locations with precision and elegance. The overall system is not primarily egocentric, and it makes no essential reference to planes through the human body.

Abstract

Research on second language acquisition typically focuses on how a first language (L1) influences a second language (L2) in different linguistic domains and across modalities. This dissertation, in contrast, explores interactions between languages in the mind of a language learner by asking 1) can an emerging L2 influence an established L1? 2) if so, how is such influence realized? 3) are there parallel influences of the L1 on the L2? These questions were investigated for the expression of Manner (e.g. climb, roll) and Path (e.g. up, down) of motion, areas where substantial crosslinguistic differences exist in speech and co-speech gesture. Japanese and English are typologically distinct in this domain; therefore, narrative descriptions of four motion events were elicited from monolingual Japanese speakers (n=16), monolingual English speakers (n=13), and native Japanese speakers with intermediate knowledge of English (narratives elicited in both their L1 and L2, n=28). Ways in which Path and Manner were expressed at the lexical, syntactic, and gestural levels were analyzed in monolingual and non-monolingual production. Results suggest mutual crosslinguistic influences. In their L1, native Japanese speakers with knowledge of English displayed both Japanese- and English-like use of morphosyntactic elements to express Path and Manner (i.e. a combination of verbs and other constructions). Consequently, non-monolingual L1 discourse contained significantly more Path expressions per clause, with significantly greater mention of Goal of motion than monolingual Japanese and English discourse. Furthermore, the gestures of non-monolingual speakers diverged from their monolingual counterparts with differences in depiction of Manner and gesture perspective (character versus observer). Importantly, non-monolingual production in the L1 was not ungrammatical, but simply reflected altered preferences. As for L2 production, many effects of L1 influence were seen, crucially in areas parallel to those described above. Overall, production by native Japanese speakers who knew English differed from that of monolingual Japanese and English speakers. But L1 and L2 production within non-monolingual individuals was similar. These findings imply a convergence of L1-L2 linguistic systems within the mind of a language learner. Theoretical and methodological implications for SLA research and language assessment with respect to the 'native speaker standard language' are discussed.

Abstract

Three-place predicates are an important locus for examining how children acquire argument structure and how this process is influenced by the typology of the language they are learning as well as by culturally-specific semantic categories. From a typological perspective, there is reason to expect children to have some trouble expressing three-participant events, given the considerable variation across languages in how these are linguistically coded. Verbs of transfer (‘give’, ‘receive’, etc.) are often considered to be the verbs which canonically appear with three arguments (e.g., Slobin 1985, Gleitman 1990). Yet in the Mayan language Tzeltal, verbs other than transfer verbs appear routinely in the ditransitive construction. Although the three participants are rarely all overtly expressed as NPs, this construction ensures that the ‘recipient’ or or ‘affectee’ participant is overtly marked on the verb. Tzeltal children’s early acquisition of this construction (well before the age of 3;0) shows that they are sensitive to its abstract constructional meaning of ‘affected’ third participant: they do not go initially for ‘transfer’ meanings but are attuned to benefactive or malefactive uses despite the predominance of the verb ‘give’ in the input with this construction. This poses a challenge to acquisition theories (Goldberg 2001, Ninio 1999) that see construction meaning arising from the meaning of the verb most frequently used in a construction.

Abstract

This paper describes the lexical resources for expressing events of cutting and breaking (C&B hereafter) in the Mayan language Tzeltal. This notional set of verbs is not a class in any grammatical sense; C&B verbs are formally undistinguishable from many other transitive state-change verbs. But they nicely reveal the characteristic specificity of Tzeltal verb semantics: C&B actions are finely differentiated according to the spatial and textural properties of the theme object, with no superordinate term meaning 'either cut in general' or 'break in general'. The paper characterizes the semantics of these verbs and shows that in the great majority of cases it does not predict their argument structure.

Abstract

This article is a reprint of parts of chapters 2 and 3 from Brown and Levinson (1987) discussing the concept of 'Face Threatening Acts'.

Abstract

Interaction, for all that it has an ethological base, is culturally constituted, and how new social members are enculturated into the interactional practices of the society is of critical interest to our understanding of interaction – how much is learned, how variable is it across cultures – as well as to our understanding of the role of culture in children’s social-cognitive development. The goal of this task is to document the nature of caregiver infant interaction in different cultures, especially during the critical age of 9-15 months when children come to have an understanding of others’ intentions. This is of interest to all students of interaction; it does not require specialist knowledge of children.

Abstract

This is a German translation of Brown 1980, How and why are women more polite: Some evidence from a Mayan community.

Abstract

A consistent finding across head-initial languages, such as English, is that subject relative clauses (SRCs) are easier to comprehend than object relative clauses (ORCs). However, several studies in Mandarin Chinese, a head-final language, revealed the opposite pattern, which might be modulated by working memory (WM) as suggested by recent results from self-paced reading performance. In the present study, event-related potentials (ERPs) were recorded when participants with high and low WM spans (measured by forward digit span and operation span tests) read Chinese ORCs and SRCs. The results revealed an N400-P600 complex elicited by ORCs on the relativizer, whose magnitude was modulated by the WM span. On the other hand, a P600 effect was elicited by SRCs on the head noun, whose magnitude was not affected by the WM span. These findings paint a complex picture of relative clause processing in Chinese such that opposing factors involving structural ambiguities and integration of filler-gap dependencies influence processing dynamics in Chinese relative clauses.

Abstract

Most human communication is between people who speak or sign the same languages. Nevertheless, communication is to some extent possible where there is no language in common, as every tourist knows. How this works is of some theoretical interest (Levinson 2006). A nice arena to explore this capacity is when deaf signers of different languages meet for the first time, and are able to use the iconic affordances of sign to begin communication. Here we focus on Other-Initiated Repair (OIR), that is, where one signer makes clear he or she does not understand, thus initiating repair of the prior conversational turn. OIR sequences are typically of a three-turn structure (Schegloff 2007) including the problem source turn (T-1), the initiation of repair (T0), and the turn offering a problem solution (T+1). These sequences seem to have a universal structure (Dingemanse et al. 2013). We find that in most cases where such OIR occur, the signer of the troublesome turn (T-1) foresees potential difficulty, and marks the utterance with 'try markers' (Sacks & Schegloff 1979, Moerman 1988) which pause to invite recognition. The signers use repetition, gestural holds, prosodic lengthening and eyegaze at the addressee as such try-markers. Moreover, when T-1 is try-marked this allows for faster response times of T+1 with respect to T0. This finding suggests that signers in these 'first encounter' situations actively anticipate potential trouble and, through try-marking, mobilize and facilitate OIRs. The suggestion is that heightened meta-linguistic awareness can be utilized to deal with these problems at the limits of our communicational ability.

Abstract

This paper reports on the first results of the DOBES project ‘Towards a multimedia dictionary of the Marquesan and Tuamotuan languages of French Polynesia’. Within the framework of this project we are building a digital multimedia encyclopedic lexicon of the endangered Marquesan and Tuamotuan languages using a new tool, LEXUS. LEXUS is a web-based lexicon tool, targeted at linguists involved in language documentation. LEXUS offers the possibility to visualize language. It provides functionalities to include audio, video and still images to the lexical entries of the dictionary, as well as relational linking for the creation of a semantic network knowledge base. Further activities aim at the development of (1) an improved user interface in close cooperation with the speech community and (2) a collaborative workspace functionality which will allow the speech community to actively participate in the creation of lexica.

Abstract

The present study investigates the development of am in the speech of one English-speaking child, Scarlett (aged 4;6–5;6). We show that am is infrequent in the speech addressed to children; the acquisition of this form of BE presents a unique insight into the processes underlying language development because children have little evidence regarding its correct use. Scarlett produced a pervasive error where she overextended are to first-person singular contexts where am was required (e.g., I'm are trying, When are I'm finished?). Am gradually emerged in her speech on what appears to be a construction-specific basis. The findings of the study are used in support of a usage-based, constructivisit approach to language development.

Abstract

The study presented in this paper examines the context-dependence and
dialogue functions of the contrastive markers of Italian ma (but),
invece (instead), mentre (while) and per (nevertheless) within
task-oriented dialogues.
Corpus data evidence their sensitivity to a acognitive interpersonal
context, conceived as a common ground. Such a cognitive state - shared
by co-participants through the coordinative process of grounding -
interacts with the global dialogue structure, which is cognitively
shaped by ``meta-negotiating{''} and grounding the dialogue topic.
Locally, the relation between the current dialogue structural units and
the global dialogue topic is said to be specified by information
structure, in particular intra-utterance themes.
It is argued that contrastive markers re-orient the co-participants'
cognitive states towards grounding ungrounded topical aspects to be
meta-negotiated. They offer a collaborative context-updating strategy,
tracking the status of common ground during dialogue topic management.

Abstract

Until recently, corpus studies of natural bilingual speech and, more specifically, codeswitching in bilingual speech have used a manual method of glossing, partof- speech tagging, and clause-splitting to prepare the data for analysis. In our article, we present innovative tools developed for the first large-scale corpus study of codeswitching triggered by cognates. A study of this size was only possible due to the automation of several steps, such as morpheme-by-morpheme glossing, splitting complex clauses into simple clauses, and the analysis of internal and external codeswitching through the use of database tables, algorithms, and a scripting language.

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

Adopting an eyetracking paradigm, we investigated the role of H*L, L*HL, L*H, H*LH, and deaccentuation at the intonational phrase-final position in online processing of information status in British English in natural speech. The role of H*L, L*H and deaccentuation was also examined in diphonesynthetic speech. It was found that H*L and L*HL create a strong bias towards newness, whereas L*H, like deaccentuation, creates a strong bias towards givenness. In synthetic speech, the same effect was found for H*L, L*H and deaccentuation, but it was delayed. The delay may not be caused entirely by the difference in the segmental quality between synthetic and natural speech. The pitch accent H*LH, however, appears to bias participants' interpretation to the target word, independent of its information status. This finding was explained in the light of the effect of durational information at the segmental level on word recognition.

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

Non-protein-coding RNAs represent a large proportion of transcribed sequences in eukaryotes. These RNAs often function in large RNA–protein complexes, which are catalysts in various RNA-processing pathways. As RNA processing has become an increasingly important area of research, numerous non-messenger RNAs have been uncovered in all the model eukaryotic organisms. However, knowledge on RNA processing in deep-branching eukaryotes is still limited. This study focuses on the identification of non-protein-coding RNAs from the diplomonad parasite Giardia intestinalis, showing that a combined experimental and computational search strategy is a fast method of screening reduced or compact genomes. The analysis of our Giardia cDNA library has uncovered 31 novel candidates, including C/D-box and H/ACA box snoRNAs, as well as an unusual transcript of RNase P, and double-stranded RNAs. Subsequent computational analysis has revealed additional putative C/D-box snoRNAs. Our results will lead towards a future understanding of RNA metabolism in the deep-branching eukaryote Giardia, as more ncRNAs are characterized.

Abstract

Abstract Mandarin categorizes cutting and breaking events on the basis of fine semantic distinctions in the causal action and the caused result. I demonstrate the semantics of Mandarin C&B verbs from the perspective of event encoding and categorization as well as argument structure alternations. Three semantically different types of predicates can be identified: verbs denoting the C&B action subevent, verbs encoding the C&B result subevent, and resultative verb compounds (RVC) that encode both the action and the result subevents. The first verb of an RVC is basically dyadic, whereas the second is monadic. RVCs as a whole are also basically dyadic, and do not undergo detransitivization.

Abstract

We analysed intonation contours of two-word utterances from three monolingual Dutch children aged between 1;4 and 2;1 in the autosegmentalmetrical framework. Our data show that children have mastered the inventory of the boundary tones and nuclear pitch accent types (except for L*HL and L*!HL) at the 160-word level, and the set of nondownstepped pre-nuclear pitch accents (except for L*) at the 230-word level, contra previous claims on the mastery of adult-like intonation contours before or at the onset of first words. Further, there is evidence that intonational development is correlated with an increase in vocabulary size. Moreover, we found that children show a preference for falling contours, as predicted on the basis of universal production mechanisms. In addition, the utterances are mostly spoken with both words accented independent of semantic relations expressed and information status of each word across developmental stages, contra prior work. Our study suggests a number of topics for further research.

Abstract

This study examined how Dutch-acquiring 4- to 5-year-olds use different pitch accent types and deaccentuation to mark topic and focus at the sentence level and how they differ from adults. The topic and focus were non-contrastive and realised as full noun phrases. It was found that children realise topic and focus similarly frequently with H*L, whereas adults use H*L noticeably more frequently in focus than in topic in sentence-initial position and nearly only in focus in sentence-final position. Further, children frequently realise the topic with an accent, whereas adults mostly deaccent the sentence-final topic and use H*L and H* to realise the sentence-initial topic because of rhythmic motivation. These results show that 4- and 5-year-olds have not acquired H*L as the typical focus accent and deaccentuation as the typical topic intonation yet. Possibly, frequent use of H*L in sentence-initial topic in adult Dutch has made it difficult to extract the functions of H*L and deaccentuation from the input.

Abstract

This paper addressed the question of how British English, German and Dutch listeners differ in their perception of continuation intonation both at the phonological level (Experiment 1) and at the level of phonetic implementation (Experiment 2). In Experiment 1, preference scores of pitch contours to signal continuation at the clause-boundary were obtained from these listener groups. It was found that among contours with H%, British English listeners had a strong preference for H*L H%, as predicted. Unexpectedly, British English listeners rated H* H% noticeably more favourably than L*H H%; Dutch listeners largely rated H* H% more favourably than H*L H% and L*H H%; German listeners rated these contours similarly and seemed to have a slight preference for H*L H%. In Experiment 2, the degree to which a final rise was perceived to express continuation was established for each listener group in a made-up language. It was found that although all listener groups associated a higher end pitch with a higher degree of continuation likelihood, the perceived meaning difference for a given interval of end pitch heights varied with the contour shape of the utterance final syllable. When it was comparable to H* H%, British English and Dutch listeners perceived a larger meaning difference than German listeners; when it was comparable to H*L H%, British English listeners perceived a larger difference than German and Dutch listeners. This shows that language-specificity in continuation intonation at the phonological level affects the perception of continuation intonation at the phonetic level.

Abstract

This paper reports a perceptual study using a semantically motivated identification task in which we investigated the nature of two pairs of intonational contrasts in English: (1) normal High accent vs. emphatic High accent; (2) early peak alignment vs. late peak alignment. Unlike previous inquiries, the present study employs an on-line method using the Reaction Time measurement, in addition to the measurement of response frequencies. Regarding the peak height continuum, the mean RTs are shortest for within-category identification but longest for across-category identification. As for the peak alignment contrast, no identification boundary emerges and the mean RTs only reflect a difference between peaks aligned with the vowel onset and peaks aligned elsewhere. We conclude that the peak height contrast is discrete but the previously claimed discreteness of the peak alignment contrast is not borne out.

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

This study examines the effects of prosodic boundaries, lexical stress, and phrasal accent on the acoustic realization of stops (/t, d/) in Dutch, with special attention paid to language-specificity in the phonetics-prosody interface. The results obtained from various acoustic measures show systematic phonetic variations in the production of /t d/ as a function of prosodic position, which may be interpreted as being due to prosodicallyconditioned articulatory strengthening. Shorter VOTs were found for the voiceless stop /t/ in prosodically stronger locations (as opposed to longer VOTs in this position in English). The results suggest that prosodically-driven phonetic realization is bounded by a language-specific phonological feature system.

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

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

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

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

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

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

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

Listeners rely on native-language rhythm in segmenting speech; in different languages, stress-, syllable- or mora-based rhythm is exploited. This language-specificity affects listening to non- native speech, if native procedures are applied even though inefficient for the non-native language. However, speakers of two languages with similar rhythmic interpretation should segment their own and the other language similarly. This was observed to date only for related languages (English-Dutch; French-Spanish). We now report experiments in which Japanese listeners heard Telugu, a Dravidian language unrelated to Japanese, and Telugu listeners heard Japanese. In both cases detection of target sequences in speech was harder when target boundaries mismatched mora boundaries, exactly the pattern that Japanese listeners earlier exhibited with Japanese and other languages. These results suggest that Telugu and Japanese listeners use similar procedures in segmenting speech, and support the idea that languages fall into rhythmic classes, with aspects of phonological structure affecting listeners' speech segmentation.

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

A distinction between strong and weak vowels can be drawn on the basis of vowel quality, of stress, or of both factors. An experiment was conducted in which sets of contextually matched word-intial vowels ranging from clearly strong to clearly weak were cross-spliced, and the naturalness of the resulting words was rated by listeners. The ratings showed that in general cross-spliced words were only significantly less acceptable than unspliced words when schwa was not involved; this supports a categorical distinction based on vowel quality.

Abstract

Infants acquire whatever language is spoken in the environment into which they are born. The mental capability of the newborn child is not biased in any way towards the acquisition of one human language rather than another. Because psychologists who attempt to model the process of language comprehension are interested in the structure of the human mind, rather than in the properties of individual languages, strategies which they incorporate in their models are presumed to be universal, not language-specific. In other words, strategies of comprehension are presumed to be characteristic of the human language processing system, rather than, say, the French, English, or Igbo language processing systems. We report here, however, on a comprehension strategy which appears to be used by native speakers of French but not by native speakers of English.

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

Previous research has shown that, in a phoneme detection task, vowels produce longer reaction times than consonants, suggesting that they are harder to perceive. One possible explanation for this difference is based upon their respective acoustic/articulatory characteristics. Another way of accounting for the findings would be to relate them to the differential functioning of vowels and consonants in the syllabic structure of words. In this experiment, we examined the second possibility. Targets were two pairs of phonemes, each containing a vowel and a consonant with similar phonetic characteristics. Subjects heard lists of English words had to press a response key upon detecting the occurrence of a pre-specified target. This time, the phonemes which functioned as vowels in syllabic structure yielded shorter reaction times than those which functioned as consonants. This rules out an explanation for response time difference between vowels and consonants in terms of function in syllable structure. Instead, we propose that consonantal and vocalic segments differ with respect to variability of tokens, both in the acoustic realisation of targets and in the representation of targets by listeners.

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

SPEECH, in any language, is continuous; speakers provide few reliable cues to the boundaries of words, phrases, or other meaningful units. To understand speech, listeners must divide the continuous speech stream into portions that correspond to such units. This segmentation process is so basic to human language comprehension that psycholinguists long assumed that all speakers would do it in the same way. In previous research1,2, however, we reported that segmentation routines can be language-specific: speakers of French process spoken words syllable by syllable, but speakers of English do not. French has relatively clear syllable boundaries and syllable-based timing patterns, whereas English has relatively unclear syllable boundaries and stress-based timing; thus syllabic segmentation would work more efficiently in the comprehension of French than in the comprehension of English. Our present study suggests that at this level of language processing, there are limits to bilingualism: a bilingual speaker has one and only one basic language.

Abstract

English and French listeners performed two tasks - click location and speeded click detection - with both English and French sentences, closely matched for syntactic and phonological structure. Clicks were located more accurately in open- than in closed-class words in both English and French; they were detected more rapidly in open- than in closed-class words in English, but not in French. The two listener groups produced the same pattern of responses, suggesting that higher-level linguistic processing was not involved in these tasks.

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

Speakers and listeners have a shared goal: to communicate. The processes of speech perception and of speech production interact in many ways under the constraints of this communicative goal; such interaction is as characteristic of prosodic processing as of the processing of other aspects of linguistic structure. Two of the major uses of prosodic information in situations of communication are to encode salience and segmentation, and these themes unite the contributions to the symposium introduced by the present review.

Abstract

The performance of automatic speech recognition systems is usually assessed in terms of error rate. Human speech recognition produces few errors, but relative difficulty of processing can be assessed via response time techniques. We report the construction of a measure analogous to response time in a machine recognition system. This measure may be compared directly with human response times. We conducted a trial comparison of this type at the phoneme level, including both tense and lax vowels and a variety of consonant classes. The results suggested similarities between human and machine processing in the case of consonants, but differences in the case of vowels.

Abstract

Segmentation of continuous speech into its component words is a nontrivial task for listeners. Previous work has suggested that listeners develop heuristic segmentation procedures based on experience with the structure of their language; for English, the heuristic is that strong syllables (containing full vowels) are most likely to be the initial syllables of lexical words, whereas weak syllables (containing central, or reduced, vowels) are nonword-initial, or, if word-initial, are grammatical words. This hypothesis is here tested against natural and laboratory-induced missegmentations of continuous speech. Precisely the expected pattern is found: listeners erroneously insert boundaries before strong syllables but delete them before weak syllables; boundaries inserted before strong syllables produce lexical words, while boundaries inserted before weak syllables produce grammatical words.

Abstract

A model of speech segmentation in a stress language is proposed, according to which the occurrence of a strong syllable triggers segmentation of the speech signal, whereas occurrence of a weak syllable does not trigger segmentation. We report experiments in which listeners detected words embedded in nonsense bisyllables more slowly when the bisyllable had two strong syllables than when it had a strong and a weak syllable; mint was detected more slowly in mintayve than in mintesh. According to our proposed model, this result is an effect of segmentation: When the second syllable is strong, it is segmented from the first syllable, and successful detection of the embedded word therefore requires assembly of speech material across a segmentation position. Speech recognition models involving phonemic or syllabic recoding, or based on strictly left-to-right processes, do not predict this result. It is argued that segmentation at strong syllables in continuous speech recognition serves the purpose of detecting the most efficient locations at which to initiate lexical access. (C) 1988 by the American Psychological Association

Abstract

Monolingual French speakers employ a syllable-based procedure in speech segmentation; monolingual English speakers use a stress-based segmentation procedure and do not use the syllable-based procedure. In the present study French-English bilinguals participated in segmentation experiments with English and French materials. Their results as a group did not simply mimic the performance of English monolinguals with English language materials and of French monolinguals with French language materials. Instead, the bilinguals formed two groups, defined by forced choice of a dominant language. Only the French-dominant group showed syllabic segmentation and only with French language materials. The English-dominant group showed no syllabic segmentation in either language. However, the English-dominant group showed stress-based segmentation with English language materials; the French-dominant group did not. We argue that rhythmically based segmentation procedures are mutually exclusive, as a consequence of which speech segmentation by bilinguals is, in one respect at least, functionally monolingual.

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

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

Researchers interested in face processing have recently debated whether access to the name of a known person occurs in parallel with retrieval of semantic-biographical codes, rather than in a sequential fashion. Recently, Schweinberger, Burton, and Kelly (2001) took a failure to obtain a semantic context effect in a manual syllable judgment task on names of famous faces as support for this position. In two experiments, we compared the effects of visually presented categorically related prime words with either objects (e.g. prime: animal; target: dog) or faces of celebrities (e.g. prime: actor; target: Bruce Willis) as targets. Targets were either manually categorized with regard to the number of syllables (as in Schweinberger et al.), or they were overtly named. For neither objects nor faces was semantic priming obtained in syllable decisions; crucially, however, priming was obtained when objects and faces were overtly named. These results suggest that both face and object naming are susceptible to semantic context effects

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

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

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