Publications

Abstract

Children adopted early in life into another linguistic community typically forget their birth language but retain, unaware, relevant linguistic knowledge that may facilitate (re)learning of birth-language patterns. Understanding the nature of this knowledge can shed light on how language is acquired. Here, international adoptees from Korea with Dutch as their current language, and matched Dutch-native controls, provided speech production data on a Korean consonantal distinction unlike any Dutch distinctions, at the outset and end of an intensive perceptual training. The productions, elicited in a repetition task, were identified and rated by Korean listeners. Adoptees' production scores improved significantly more across the training period than control participants' scores, and, for adoptees only, relative production success correlated significantly with the rate of learning in perception (which had, as predicted, also surpassed that of the controls). Of the adoptee group, half had been adopted at 17 months or older (when talking would have begun), while half had been prelinguistic (under six months). The former group, with production experience, showed no advantage over the group without. Thus the adoptees' retained knowledge of Korean transferred from perception to production and appears to be abstract in nature rather than dependent on the amount of experience.

Abstract

Until at least 6 mo of age, infants show good discrimination for familiar phonetic contrasts (i.e., those heard in the environmental language) and contrasts that are unfamiliar. Adult-like discrimination (significantly worse for nonnative than for native contrasts) appears only later, by 9–10 mo. This has been interpreted as indicating that infants have no knowledge of phonology until vocabulary development begins, after 6 mo of age. Recently, however, word recognition has been observed before age 6 mo, apparently decoupling the vocabulary and phonology acquisition processes. Here we show that phonological acquisition is also in progress before 6 mo of age. The evidence comes from retention of birth-language knowledge in international adoptees. In the largest ever such study, we recruited 29 adult Dutch speakers who had been adopted from Korea when young and had no conscious knowledge of Korean language at all. Half were adopted at age 3–5 mo (before native-specific discrimination develops) and half at 17 mo or older (after word learning has begun). In a short intensive training program, we observe that adoptees (compared with 29 matched controls) more rapidly learn tripartite Korean consonant distinctions without counterparts in their later-acquired Dutch, suggesting that the adoptees retained phonological knowledge about the Korean distinction. The advantage is equivalent for the younger-adopted and the older-adopted groups, and both groups not only acquire the tripartite distinction for the trained consonants but also generalize it to untrained consonants. Although infants younger than 6 mo can still discriminate unfamiliar phonetic distinctions, this finding indicates that native-language phonological knowledge is nonetheless being acquired at that age.

Abstract

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

Abstract

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

Abstract

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

Abstract

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

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

Abstract

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

Abstract

Expectancy mechanisms are routinely used by the cognitive system in stimulus processing and in anticipation of appropriate responses. Electrophysiology research has documented negative shifts of brain activity when expectancies are violated within a local stimulus context (e.g., reading an implausible word in a sentence) or more globally between consecutive stimuli (e.g., a narrative of images with an incongruent end). In this EEG study, we examine the interaction between expectancies operating at the level of stimulus plausibility and at more global level of contextual congruency to provide evidence for, or against, a disassociation of the underlying processing mechanisms. We asked participants to verify the congruency of pairs of cross-modal stimuli (a sentence and a scene), which varied in plausibility. ANOVAs on ERP amplitudes in selected windows of interest show that congruency violation has longer-lasting (from 100 to 500 ms) and more widespread effects than plausibility violation (from 200 to 400 ms). We also observed critical interactions between these factors, whereby incongruent and implausible pairs elicited stronger negative shifts than their congruent counterpart, both early on (100–200 ms) and between 400–500 ms. Our results suggest that the integration mechanisms are sensitive to both global and local effects of expectancy in a modality independent manner. Overall, we provide novel insights into the interdependence of expectancy during meaning integration of cross-modal stimuli in a verification task

Abstract

The scavenger receptor C-type lectin (SRCL) is an endothelial receptor that is similar in organization to type A scavenger receptors for modified low density lipoproteins but contains a C-type carbohydrate-recognition domain (CRD). Fragments of the receptor consisting of the entire extracellular domain and the CRD have been expressed and characterized. The extracellular domain is a trimer held together by collagen-like and coiled-coil domains adjacent to the CRD. The amino acid sequence of the CRD is very similar to the CRD of the asialoglycoprotein receptor and other galactose-specific receptors, but SRCL binds selectively to asialo-orosomucoid rather than generally to asialoglycoproteins. Screening of a glycan array and further quantitative binding studies indicate that this selectivity results from high affinity binding to glycans bearing the Lewis(x) trisaccharide. Thus, SRCL shares with the dendritic cell receptor DC-SIGN the ability to bind the Lewis(x) epitope. However, it does so in a fundamentally different way, making a primary binding interaction with the galactose moiety of the glycan rather than the fucose residue. SRCL shares with the asialoglycoprotein receptor the ability to mediate endocytosis and degradation of glycoprotein ligands. These studies suggest that SRCL might be involved in selective clearance of specific desialylated glycoproteins from circulation and/or interaction of cells bearing Lewis(x)-type structures with the vascular endothelium.

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

Past events like fluctuations in population size and post-glacial colonization processes may influence the relative importance of genetic drift, migration and selection when determining the present day patterns of genetic variation. We disentangle how drift, selection and migration shape neutral and adaptive genetic variation in 12 moor frog populations along a 1700 km latitudinal gradient. We studied genetic differentiation and variation at a MHC exon II locus and a set of 18 microsatellites.
Results

Using outlier analyses, we identified the MHC II exon 2 (corresponding to the β-2 domain) locus and one microsatellite locus (RCO8640) to be subject to diversifying selection, while five microsatellite loci showed signals of stabilizing selection among populations. STRUCTURE and DAPC analyses on the neutral microsatellites assigned populations to a northern and a southern cluster, reflecting two different post-glacial colonization routes found in previous studies. Genetic variation overall was lower in the northern cluster. The signature of selection on MHC exon II was weaker in the northern cluster, possibly as a consequence of smaller and more fragmented populations.
Conclusion

Our results show that historical demographic processes combined with selection and drift have led to a complex pattern of differentiation along the gradient where some loci are more divergent among populations than predicted from drift expectations due to diversifying selection, while other loci are more uniform among populations due to stabilizing selection. Importantly, both overall and MHC genetic variation are lower at northern latitudes. Due to lower evolutionary potential, the low genetic variation in northern populations may increase the risk of extinction when confronted with emerging pathogens and climate change.

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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

We investigated cooperative problem solving in unrelated pairs of the cooperatively breeding cottontop tamarin, Saguinus oedipus, to assess the cognitive basis of cooperative behaviour in this species and to compare abilities with other apes and monkeys. A transparent apparatus was used that required extension of two handles at opposite ends of the apparatus for access to rewards. Resistance was applied to both handles so that two tamarins had to act simultaneously in order to receive rewards. In contrast to several previous studies of cooperation, both tamarins received rewards as a result of simultaneous pulling. The results from two experiments indicated that the cottontop tamarins (1) had a much higher success rate and efficiency of pulling than many of the other species previously studied, (2) adjusted pulling behaviour to the presence or absence of a partner, and (3) spontaneously developed sustained pulling techniques to solve the task. These findings suggest that cottontop tamarins understand the role of the partner in this cooperative task, a cognitive ability widely ascribed only to great apes. The cooperative social system of tamarins, the intuitive design of the apparatus, and the provision of rewards to both participants may explain the performance of the tamarins.

Abstract

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

Abstract

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

Abstract

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

Three groups of listeners identified the vowel in CV and VC syllables produced by an American English talker. The listeners were (a) native speakers of American English, (b) native speakers of Australian English (different dialect), and (c) native speakers of Dutch (different language). The syllables were embedded in multispeaker babble at three signal-to-noise ratios (0 dB, 8 dB, and 16 dB). The identification performance of native listeners was significantly better than that of listeners with another language but did not significantly differ from the performance of listeners with another dialect. Dialect differences did however affect the type of perceptual confusions which listeners made; in particular, the Australian listeners’ judgements of vowel tenseness were more variable than the American listeners’ judgements, which may be ascribed to cross-dialectal differences in this vocalic feature. Although listening difficulty can result when speech input mismatches the native dialect in terms of the precise cues for and boundaries of phonetic categories, the difficulty is very much less than that which arises when speech input mismatches the native language in terms of the repertoire of phonemic categories available.

Abstract

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

Abstract

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

The perceptual processing of speech is a constant interplay of multiple competing albeit convergent processes: acoustic input vs. higher-level representations, universal mechanisms vs. language-specific, veridical traces of speech experience vs. construction and activation of abstract representations. The present summary concerns the third of these issues. The ability to generalise across experience and to deal with resulting abstractions is the hallmark of human cognition, visible even in early infancy. In speech processing, abstract representations play a necessary role in both production and perception. New sorts of evidence are now informing our understanding of the breadth of this role.

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

In English and Dutch, listeners entrain to prosodic contours to predict where focus will fall in an utterance. However, is this strategy universally available, even in languages with different phonological systems? In a phoneme detection experiment, we examined whether prosodic entrainment is also found in Mandarin Chinese, a tone language, where in principle the use of pitch for lexical identity may take precedence over the use of pitch cues to salience. Consistent with the results from Germanic languages, response times were facilitated when preceding intonation predicted accent on the target-bearing word. Acoustic analyses revealed greater F0 range in the preceding intonation of the predicted-accent sentences. These findings have implications for how universal and language-specific mechanisms interact in the processing of salience.

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

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

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

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

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

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

Participants' eye movements to four objects displayed on a computer screen were monitored as the participants clicked on the object named in a spoken instruction. The display contained pictures of the referent (e.g., a snake), a competitor that shared features with the visual representation associated with the referent's concept (e.g., a rope), and two distractor objects (e.g., a couch and an umbrella). As the first sounds of the referent's name were heard, the participants were more likely to fixate the visual competitor than to fixate either of the distractor objects. Moreover, this effect was not modulated by the visual similarity between the referent and competitor pictures, independently estimated in a visual similarity rating task. Because the name of the visual competitor did not overlap with the phonetic input, eye movements reflected word-object matching at the level of lexically activated perceptual features and not merely at the level of preactivated sound forms.

Abstract

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

Abstract

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

Abstract

Speech-in-speech perception can be challenging because the processing of competing acoustic and linguistic information leads to informational masking. Here, a method is proposed to isolate the linguistic component of informational masking while keeping the distractor's acoustic information unchanged. Participants performed a dichotic listening cocktail-party task before and after training on 4-band noise-vocoded sentences that became intelligible through the training. Distracting noise-vocoded speech interfered more with target speech comprehension after training (i.e., when intelligible) than before training (i.e., when unintelligible) at −3 dB SNR. These findings confirm that linguistic and acoustic information have distinct masking effects during speech-in‐speech comprehension

Abstract

The Battery for the Assessment of Auditory Sensorimotor and Timing Abilities (BAASTA) is a new tool for the systematic assessment of perceptual and sensorimotor timing skills. It spans a broad range of timing skills aimed at differentiating individual timing profiles. BAASTA consists of sensitive time perception and production tasks. Perceptual tasks include duration discrimination, anisochrony detection (with tones and music), and a version of the Beat Alignment Task. Perceptual thresholds for duration discrimination and anisochrony detection are estimated with a maximum likelihood procedure (MLP) algorithm. Production tasks use finger tapping and include unpaced and paced tapping (with tones and music), synchronization-continuation, and adaptive tapping to a sequence with a tempo change. BAASTA was tested in a proof-of-concept study with 20 non-musicians (Experiment 1). To validate the results of the MLP procedure, less widespread than standard staircase methods, three perceptual tasks of the battery (duration discrimination, anisochrony detection with tones, and with music) were further tested in a second group of non-musicians using 2 down / 1 up and 3 down / 1 up staircase paradigms (n = 24) (Experiment 2). The results show that the timing profiles provided by BAASTA allow to detect cases of timing/rhythm disorders. In addition, perceptual thresholds yielded by the MLP algorithm, although generally comparable to the results provided by standard staircase, tend to be slightly lower. In sum, BAASTA provides a comprehensive battery to test perceptual and sensorimotor timing skills, and to detect timing/rhythm deficits.

Abstract

Background

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

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

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

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

Abstract

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

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

Speech comprehension is resistant to acoustic distortion in the input, reflecting listeners' ability to adjust perceptual processes to match the speech input. For noise-vocoded sentences, a manipulation that removes spectral detail from speech, listeners' reporting improved from near 0% to 70% correct over 30 sentences (Experiment 1). Learning was enhanced if listeners heard distorted sentences while they knew the identity of the undistorted target (Experiments 2 and 3). Learning was absent when listeners were trained with nonword sentences (Experiments 4 and 5), although the meaning of the training sentences did not affect learning (Experiment 5). Perceptual learning of noise-vocoded speech depends on higher level information, consistent with top-down, lexically driven learning. Similar processes may facilitate comprehension of speech in an unfamiliar accent or following cochlear implantation.

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

Language is not a purely cultural phenomenon somehow isolated from its wider environment, and we may only understand its origins and evolution by seriously considering its embedding in this environment as well as its multimodal nature. By environment here we understand other aspects of culture (such as communication technology, attitudes towards language contact, etc.), of the physical environment (ultraviolet light incidence, air humidity, etc.), and of the biological infrastructure for language and speech. We are specifically concerned in this paper with the latter, in the form of the biases, constraints and affordances that the anatomy and physiology of the vocal tract create on speech and language. In a nutshell, our argument is that (a) there is an under-appreciated amount of inter-individual variation in vocal tract (VT) anatomy and physiology, (b) variation that is non-randomly distributed across populations, and that (c) results in systematic differences in phonetics and phonology between languages. Relevant differences in VT anatomy include the overall shape of the hard palate, the shape of the alveolar ridge, the relationship between the lower and upper jaw, to mention just a few, and our data offer a new way to systematically explore such differences and their potential impact on speech. These differences generate very small biases that nevertheless can be amplified by the repeated use and transmission of language, affecting language diachrony and resulting in cross-linguistic synchronic differences. Moreover, the same type of biases and processes might have played an essential role in the emergence and evolution of language, and might allow us a glimpse into the speech and language of extinct humans by, for example, reconstructing the anatomy of parts of their vocal tract from the fossil record and extrapolating the biases we find in present-day humans.

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

Investigation of the biological basis of human speech and language is being transformed by developments in molecular technologies, including high-throughput genotyping and next-generation sequencing of whole genomes. These advances are shedding new light on the genetic architecture underlying language-related disorders (speech apraxia, specific language impairment, developmental dyslexia) as well as that contributing to variation in relevant skills in the general population. We discuss how state-of-the-art methods are uncovering a range of genetic mechanisms, from rare mutations of large effect to common polymorphisms that increase risk in a subtle way, while converging on neurogenetic pathways that are shared between distinct disorders. We consider the future of the field, highlighting the unusual challenges and opportunities associated with studying genomics of language-related traits.

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

Background: Human fibroblasts can be directly converted to several subtypes of neurons, but cortical projection neurons have not been generated. Methods: Here we screened for transcription factor combinations that could potentially convert human fibroblasts to functional excitatory cortical neurons. The induced cortical (iCtx) cells were analyzed for cortical neuronal identity using immunocytochemistry, single-cell quantitative polymerase chain reaction (qPCR), electrophysiology, and their ability to integrate into human neural networks in vitro and ex vivo using electrophysiology and rabies virus tracing. Results: We show that a combination of three ranscription fact ors, BRN2, MYT1L, and FEZF2, have the ability to directly convert human fibroblasts to functional excitatory cortical neurons. The conversion efficiency was increased to about 16% by treatment with small molecules and microRNAs. The iCtx cells exhibited electrophysiological properties of functional neurons, had pyramidal-like cell morphology, and expressed key cortical projection neuronal markers. Single-cell analysis of iCtx cells revealed a complex gene expression profile, a subpopulation of them displaying a molecular signature closely resembling that of human fetal primary cortical neurons. The iCtx cells received synaptic inputs from co-cultured human fetal primary cortical neurons, contained spines, and expressed the postsyna ptic excitatory scaffold protein PSD95. When transplanted ex vivo to organotypic cultures of adult human cerebral cortex, the iCtx cells exhibited morphological and electrophysiological properties of mature neurons, integrated structurally into the cortical tissue, and received synaptic inputs from adult human neurons. Conclusions: Our findings indicate that functional excitatory cortical neurons, generated here for the first time by direct conversion of human somatic cells, have the capacity for synaptic integration into adult human cortex.