Publications

Abstract

The goal of this study is to examine how the degree of vowel-to-vowel coarticulation varies as a function of prosodic factors such as nuclear-pitch accent (accented vs. unaccented), level of prosodic boundary (Prosodic Word vs. Intermediate Phrase vs. Intonational Phrase), and position-in-prosodic-domain (initial vs. final). It is hypothesized that vowels in prosodically stronger locations (e.g., in accented syllables and at a higher prosodic boundary) are not only coarticulated less with their neighboring vowels, but they also exert a stronger influence on their neighbors. Measurements of tongue position for English /a i/ over time were obtained with Carsten’s electromagnetic articulography. Results showed that vowels in prosodically stronger locations are coarticulated less with neighboring vowels, but do not exert a stronger influence on the articulation of neighboring vowels. An examination of the relationship between coarticulation and duration revealed that (a) accent-induced coarticulatory variation cannot be attributed to a duration factor and (b) some of the data with respect to boundary effects may be accounted for by the duration factor. This suggests that to the extent that prosodically conditioned coarticulatory variation is duration-independent, there is no absolute causal relationship from duration to coarticulation. It is proposed that prosodically conditioned V-to-V coarticulatory reduction is another type of strengthening that occurs in prosodically strong locations. The prosodically driven coarticulatory patterning is taken to be part of the phonetic signatures of the hierarchically nested structure of prosody.

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

The aim of this study was to determine if Dutch speakers reliably signal phrase-internal lexical boundaries, and if so, how. Six speakers recorded 4 pairs of phonemically identical strong-weak-strong (SWS) strings with matching syllable boundaries but mismatching intended word boundaries (e.g. reis # pastei versus reispas # tij, or more broadly C1V2(C)#C2V2(C)C3V3(C) vs. C1V2(C)C2V2(C)#C3V3(C)). An Analysis of Variance revealed 3 acoustic parameters that were significantly greater in S#WS items (C2 DURATION, RIME1 DURATION, C3 BURST AMPLITUDE) and 5 parameters that were significantly greater in the SW#S items (C2 VOT, C3 DURATION, RIME2 DURATION, RIME3 DURATION, and V2 AMPLITUDE). Additionally, center of gravity measurements suggested that the [s] to [t] coarticulation was greater in reis # pa[st]ei versus reispa[s] # [t]ij. Finally, a Logistic Regression Analysis revealed that the 3 parameters (RIME1 DURATION, RIME2 DURATION, and C3 DURATION) contributed most reliably to a S#WS versus SW#S classification.

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

The fluent production of speech is a very complex human skill. It requires the coordination of several articulatory subsystems. The instructions that lead articulatory movements to execution are the result of the interplay of speech production levels that operate above the articulatory network. During the process of word-form encoding, the groundwork for the articulatory programs is prepared which then serve the articulators as basic units. This thesis investigated whether or not syllables form the basis for the articulatory programs and in particular whether or not these syllable programs are stored, separate from the store of the lexical word-forms. It is assumed that syllable units are stored in a so-called 'mental syllabary'. The main goal of this thesis was to find evidence of the syllable playing a functionally important role in speech production and for the assumption that syllables are stored units. In a variant of the implicit priming paradigm, it was investigated whether information about the syllabic structure of a target word facilitates the preparation (advanced planning) of a to-be-produced utterance. These experiments yielded evidence for the functionally important role of syllables in speech production. In a subsequent row of experiments, it could be demonstrated that the production of syllables is sensitive to frequency. Syllable frequency effects provide strong evidence for the notion of a mental syllabary because only stored units are likely to exhibit frequency effects. In a last study, effects of syllable preparation and syllable frequency were investigated in a combined study to disentangle the two effects. The results of this last experiment converged with those reported for the other experiments and added further support to the claim that syllables play a core functional role in speech production and are stored in a mental syllabary.

Abstract

Models of speech production assume that syllables play a functional role in the process of word-form encoding in speech production. In this study, we investigate this claim and specifically provide evidence about the level at which syllables come into play. We report two studies using an odd-man-out variant of the implicit priming paradigm to examine the role of the syllable during the process of word formation. Our results show that this modified version of the implicit priming paradigm can trace the emergence of syllabic structure during spoken word generation. Comparing these results to prior syllable priming studies, we conclude that syllables emerge at the interface between phonological and phonetic encoding. The results are discussed in terms of the WEAVER++ model of lexical access.

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

We report an investigation of the perception of American English phonemes by Dutch listeners proficient in English. Listeners identified either the consonant or the vowel in most possible English CV and VC syllables. The syllables were embedded in multispeaker babble at three signal-to-noise ratios (16 dB, 8 dB, and 0 dB). Effects of signal-to-noise ratio on vowel and consonant identification are discussed as a function of syllable position and of relationship to the native phoneme inventory. Comparison of the results with previously reported data from native listeners reveals that noise affected the responding of native and non-native listeners similarly.

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

Language-specific differences in the size and distribution of the phonemic repertoire can have implications for the task facing listeners in recognising spoken words. A language with more phonemes will allow shorter words and reduced embedding of short words within longer ones, decreasing the potential for spurious lexical competitors to be activated by speech signals. We demonstrate that this is the case via comparative analyses of the vocabularies of English and Spanish. A language which uses suprasegmental as well as segmental contrasts, however, can substantially reduce the extent of spurious embedding.

Abstract

Native American English and non-native(Dutch)listeners identified either the consonant or the vowel in all possible American English CV and VC syllables. The syllables were embedded in multispeaker babble at three signal-to-noise ratios(0, 8, and 16 dB). The phoneme identification
performance of the non-native listeners was less accurate than that of the native listeners. All listeners were adversely affected by noise. With these isolated syllables, initial segments were harder to identify than final segments. Crucially, the effects of language background and noise did not interact; the performance asymmetry between the native and non-native groups was not significantly different across signal-to-noise ratios. It is concluded that the frequently reported disproportionate difficulty of non-native listening under disadvantageous conditions is not due to a disproportionate increase in phoneme misidentifications.

Abstract

The retiring academic may look back upon, inter alia, years of conference attendance. Speech error researchers are uniquely fortunate because they can collect data in any situation involving communication; accordingly, the retiring speech error researcher will have collected data at those conferences. We here address the issue of whether error data collected in situations involving conviviality (such as at conferences) is representative of error data in general. Our approach involved a comparison, across three levels of linguistic processing, between a specially constructed Conviviality Sample and the largest existing source of speech error data, the newly available Fromkin Speech Error Database. The results indicate that there are grounds for regarding the data in the Conviviality Sample as a better than average reflection of the true population of all errors committed. These findings encourage us to recommend further data collection in collaboration with like-minded colleagues.

Abstract

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

Abstract

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

Abstract

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

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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

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

Abstract

The order of some conjoined words is rigidly fixed (e.g. dribs and drabs/*drabs and dribs). Both phonetic and semantic factors can play a role in determining the fixed order. An experiment was conducted to test whether listerners’ reaction times for monitoring a predetermined phoneme are influenced by phonetic constraints on ordering. Two such constraints were investigated: monosyllable-bissyllable and high-low vowel sequences. In English, conjoined words occur in such sequences with much greater frequency than their converses, other factors being equal. Reaction times were significantly shorter for phoneme monitoring in monosyllable-bisyllable sequences than in bisyllable- monosyllable sequences. However, reaction times were not significantly different for high-low vs. low-high vowel sequences.

Abstract

An acoustically invariant one-word segment occurred in two versions of one syntactic context. In one version, the preceding intonation contour indicated that a stress would fall at the point where this word occurred. In the other version, the preceding contour predicted reduced stress at that point. Reaction time to the initial phoneme of the word was faster in the former case, despite the fact that no acoustic correlates of stress were present. It is concluded that a part of the sentence comprehension process is the prediction of upcoming sentence accents.

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

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 authors used 2 “visual-world” eye-tracking experiments to examine lexical access using Dutch constructions in which the verb did or did not place semantic constraints on its subsequent subject noun phrase. In Experiment 1, fixations to the picture of a cohort competitor (overlapping with the onset of the referent’s name, the subject) did not differ from fixations to a distractor in the constraining-verb condition. In Experiment 2, cross-splicing introduced phonetic information that temporarily biased the input toward the cohort competitor. Fixations to the cohort competitor temporarily increased in both the neutral and constraining conditions. These results favor models in which mapping from the input onto meaning is continuous over models in which contextual effects follow access of an initial form-based competitor set.

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

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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