Publications

Abstract

This paper shows that the effect of different types of noise on recognition of different phonemes by native versus non-native listeners is highly variable, even within classes of phonemes with the same manner or place of articulation. In a phoneme identification experiment, English and Dutch listeners heard all 24 English consonants in VCV stimuli in quiet and in three types of noise: competing talker, speech-shaped noise, and modulated speech-shaped noise (all with SNRs of −6 dB). Differential effects of noise type for English and Dutch listeners were found for eight consonants (/p t k g m n ŋ r/) but not for the other 16 consonants. For those eight consonants, effects were again highly variable: each noise type hindered non-native listeners more than native listeners for some of the target sounds, but none of the noise types did so for all of the target sounds, not even for phonemes with the same manner or place of articulation. The results imply that the noise types employed will strongly affect the outcomes of any study of native and non-native speech perception in noise.

Abstract

This study examined whether listeners align to reduced speech. Participants were asked to shadow sentences from a casual speech corpus containing canonical and reduced targets. Participants' productions showed alignment: durations of canonical targets were longer than durations of reduced targets; and participants often imitated the segment types (canonical versus reduced) in both targets. The effect sizes were similar to previous work on alignment. In addition, shadowed productions were overall longer in duration than the original stimuli and this effect was larger for reduced than canonical targets. A possible explanation for this finding is that listeners reconstruct canonical forms from reduced forms.

Abstract

This study examined the influence of background language variation on speech recognition. English listeners performed an English sentence recognition task in either “pure” background conditions in which all trials had either English or Dutch background babble or in mixed background conditions in which the background language varied across trials (i.e., a mix of English and Dutch or one of these background languages mixed with quiet trials). This design allowed the authors to compare performance on identical trials across pure and mixed conditions. The data reveal that speech-in-speech recognition is sensitive to contextual variation in terms of the target-background language (mis)match depending on the relative ease/difficulty of the test trials in relation to the surrounding trials.

Abstract

This study examined the temporal dynamics of spoken word recognition in noise and background speech. In two visual-world experiments, English participants listened to target words while looking at four pictures on the screen: a target (e.g. candle), an onset competitor (e.g. candy), a rhyme competitor (e.g. sandal), and an unrelated distractor (e.g. lemon). Target words were presented in quiet, mixed with broadband noise, or mixed with background speech. Results showed that lexical competition changes throughout the observation window as a function of what is presented in the background. These findings suggest that, rather than being strictly sequential, stream segregation and lexical competition interact during spoken word recognition

Abstract

As a turn-design strategy, repeating another has been described for English as a fairly restricted way of constructing a response, which, through re-saying what another speaker just said, is exploitable for claiming epistemic primacy, and thus avoided when a second speaker has no direct experience. Conversations in Mesoamerican languages present a challenge to the generality of this claim. This paper examines the epistemics of dialogic repetition in video-recordings of conversations in three Indigenous languages of Mexico: Tzeltal and Yucatec Maya, both spoken in southeastern Mexico, and Lachixío Zapotec, spoken in Oaxaca. We develop a typology of repetition in different sequential environments. We show that while the functions of repeats in Mesoamerica overlap with the range of repeat functions described for English, there is an additional epistemic environment in the Mesoamerican routine of repeating for affirmation: a responding speaker can repeat to affirm something introduced by another speaker of which s/he has no prior knowledge. We argue that, while dialogic repetition is a universally available turn-design strategy that makes epistemics potentially relevant, cross-cultural comparison reveals that cultural preferences intervene such that, in Mesoamerican conversations, repetition co-constructs knowledge as collective process over which no individual participant has final authority or ownership.

Abstract

When we use our hands to estimate the length of a stick in the Müller-Lyer illusion, we are highly susceptible to the illusion. But when we prepare to act on sticks under the same conditions, we are significantly less susceptible. Here, we asked whether people are susceptible to illusion when they use their hands not to act on objects but to describe them in spontaneous co-speech gestures or conventional sign languages of the deaf. Thirty-two English speakers and 13 American Sign Language signers used their hands to act on, estimate the length of, and describe sticks eliciting the Müller-Lyer illusion. For both gesture and sign, the magnitude of illusion in the description task was smaller than the magnitude of illusion in the estimation task and not different from the magnitude of illusion in the action task. The mechanisms responsible for producing gesture in speech and sign thus appear to operate not on percepts involved in estimation but on percepts derived from the way we act on objects.

Abstract

Languages vary typologically in their lexicalization of Path of motion (Talmy 1991). Furthermore, lexicalization patterns are argued to affect syntactic packaging at the level of the clause (e.g. Slobin 1996b) and tend to transfer from a first (L1) to a second language (L2) in second language acquisition (e.g. Cadierno 2004). From this crosslinguistic and developmental evidence, typological preferences for Path expression appear highly robust features of a first language. The current study examines the extent to which preferences for Path encoding really are as enduring as they seem by investigating (1) whether Japanese follows patterns identified for other verb-framed languages like Spanish, and (2) whether patterns established in one’s first language can change after acquisition of a second language. L1 performance of native speakers of Japanese with intermediate-level knowledge of English was compared to that of monolingual speakers of Japanese and English. Results showed that monolingual Japanese speakers followed basic lexicalization patterns typical of other verb-framed languages, but with different realizations of Path packaging within the clause. Moreover, non-monolingual Japanese speakers displayed both English- and Japanese-like patterns for lexicalization with significantly more Path information per clause than either group of monolinguals. Implications for typology and second language acquisition are discussed.

Abstract

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

Abstract

This paper reports the results of a study of Tzeltal questions and their responses, based on a collection of 419 question/response sequences drawn from video recordings of ‘maximally casual’ naturally occurring face-to-face interactions in a Tzeltal (Mayan) community. I describe the lexical and grammatical resources for formulating content and polar questions in Tzeltal, the different kinds of social actions that questions can be used to perform and their relative frequency in the data, and the characteristic properties of responses to questions. This is part of a large-scale comparative study of questions in 10 different languages, and we find that Tzeltal is like most others in making much more use of polar than of content questions, and in the strong tendency for confirming answers to polar questions. Tzeltal is however unusual in three respects: in the comparatively minimal use of gaze to select next speaker, in the frequency with which answers take the form of repeats, and in the complete absence of visible-only responses (e.g., nods or head-shakes). There are also some language-specific properties of question–answer sequences that reveal cultural shaping of sequencing in conversation.

Abstract

Speaking begins with the formulation of an intended preverbal message and linguistic encoding of this information. The transition from thought to speech occurs incrementally, with cascading planning at subsequent levels of production. In this article, we aim to specify the mechanisms that support incremental message preparation. We contrast two hypotheses about the mechanisms responsible for incorporating message-level information into a linguistic plan. According to the Initial Preparation view, messages can be encoded as fluent utterances if all information is ready before speaking begins. By contrast, on the Continuous Incrementality view, messages can be continually prepared and updated throughout the production process, allowing for fluent production even if new information is added to the message while speaking is underway. Testing these hypotheses, eye-tracked speakers in two experiments produced unscripted, conjoined noun phrases with modifiers. Both experiments showed that new message elements can be incrementally incorporated into the utterance even after articulation begins, consistent with a Continuous Incrementality view of message planning, in which messages percolate to linguistic encoding immediately as that information becomes available in the mind of the speaker. We conclude by discussing the functional role of incremental message planning in conversational speech and the situations in which this continuous incremental planning would be most likely to be observed

Abstract

Genes of the Major Histocompatibility Complex (MHC) have recently been shown to have neuronal functions in the thalamus and hippocampus. Common genetic variants in the Human Leukocyte Antigens (HLA) region, human homologue of the MHC locus, are associated with small effects on susceptibility to schizophrenia, while volumetric changes of the thalamus and hippocampus have also been linked to schizophrenia. We therefore investigated whether common variants of the HLA would affect volumetric variation of the thalamus and hippocampus. We analyzed thalamus and hippocampus volumes, as measured using structural magnetic resonance imaging, in 1.265 healthy participants. These participants had also been genotyped using genome-wide single nucleotide polymorphism (SNP) arrays. We imputed genotypes for single nucleotide polymorphisms at high density across the HLA locus, as well as HLA allotypes and HLA amino acids, by use of a reference population dataset that was specifically targeted to the HLA region. We detected a significant association of the SNP rs17194174 with thalamus volume (nominal P=0.0000017, corrected P=0.0039), as well as additional SNPs within the same region of linkage disequilibrium. This effect was largely lateralized to the left thalamus and is localized within a genomic region previously associated with schizophrenia. The associated SNPs are also clustered within a potential regulatory element, and a region of linkage disequilibrium that spans genes expressed in the thalamus, including HLA-A. Our data indicate that genetic variation within the HLA region influences the volume and asymmetry of the human thalamus. The molecular mechanisms underlying this association may relate to HLA influences on susceptibility to schizophrenia

Abstract

Epigenetic effects on psychiatric traits remain relatively under-studied, and it remains unclear what the sizes of individual epigenetic effects may be, or how they vary between different clinical populations. The gene LRRTM1 (chromosome 2p12) has previously been linked and associated with schizophrenia in a parent-of-origin manner in a set of affected siblings (LOD = 4.72), indirectly suggesting a disruption of paternal imprinting at this locus in these families. From the same set of siblings that originally showed strong linkage at this locus, we analyzed 99 individuals using 454-bisulfite sequencing, from whole blood DNA, to measure the level of DNA methylation in the promoter region of LRRTM1. We also assessed seven additional loci that would be informative to compare. Paternal identity-by-descent sharing at LRRTM1, within sibling pairs, was linked to their similarity of methylation at the gene's promoter. Reduced methylation at the promoter showed a significant association with schizophrenia. Sibling pairs concordant for schizophrenia showed more similar methylation levels at the LRRTM1 promoter than diagnostically discordant pairs. The alleles of common SNPs spanning the locus did not explain this epigenetic linkage, which can therefore be considered as largely independent of DNA sequence variation and would not be detected in standard genetic association analysis. Our data suggest that hypomethylation at the LRRTM1 promoter, particularly of the paternally inherited allele, was a risk factor for the development of schizophrenia in this set of siblings affected with familial schizophrenia, and that had previously showed linkage at this locus in an affected-sib-pair context.

Abstract

Background Retracing the genetic histories of the descendant populations of the Slave Trade (16th-19th centuries) is particularly challenging due to the diversity of African ethnic groups involved and the different hybridisation processes with Europeans and Amerindians, which have blurred their original genetic inheritances. The Noir Marron in French Guiana are the direct descendants of maroons who escaped from Dutch plantations in the current day Surinam. They represent an original ethnic group with a highly blended culture. Uniparental markers (mtDNA and NRY) coupled with HTLV-1 sequences (env and LTR) were studied to establish the genetic relationships linking them to African American and African populations. Results All genetic systems presented a high conservation of the African gene pool (African ancestry: mtDNA = 99.3%; NRY = 97.6%; HTLV-1 env = 20/23; HTLV-1 LTR = 6/8). Neither founder effect nor genetic drift was detected and the genetic diversity is within a range commonly observed in Africa. Higher genetic similarities were observed with the populations inhabiting the Bight of Benin (from Ivory Coast to Benin). Other ancestries were identified but they presented an interesting sex-bias. Whilst male origins spread throughout the north of the bight (from Benin to Senegal), female origins were spread throughout the south (from the Ivory Coast to Angola). Conclusions The Noir Marron are unique in having conserved their African genetic ancestry, despite major cultural exchanges with Amerindians and Europeans through inhabiting the same region for four centuries. Their maroon identity and the important number of slaves deported in this region have maintained the original African diversity. All these characteristics permit to identify a major origin located in the former region of the Gold Coast and the Bight of Benin; regions highly impacted by slavery, from which goes a sex-biased longitudinal gradient of ancestry.

Abstract

Several neurodevelopmental disorders are associated with preference for routine and challenging behavior following changes to routines. We examine individuals with Prader–Willi syndrome, who show elevated levels of this behavior, to better understand how previous experience of a routine can affect challenging behavior elicited by disruption to that routine. Play based challenges exposed 16 participants to routines, which were either adhered to or changed. Temper outburst behaviors, heart rate and movement were measured. As participants were exposed to routines for longer before a change (between 10 and 80 min; within participants), more temper outburst behaviors were elicited by changes. Increased emotional arousal was also elicited, which was indexed by heart rate increases not driven by movement. Further study will be important to understand whether current intervention approaches that limit exposure to changes, may benefit from the structured integration of flexibility to ensure that the opportunity for routine establishment is also limited.

Abstract

The recently disclosed plasticity properties of adult-derived stem cells, their ability to be reprogrammed by defined factors into pluripotent stem cells and the comprehension of “epi”-genetic mechanisms underlying stem cells differentiation process has opened unexpected avenues to attempt regeneration of tissues affected by degenerative disorders and prompted the birth of the new “regenerative medicine” concept. Regeneration of the vascular and myocardial tissues is considered a primary endpoint to limit the consequences of acute and chronic ischemic heart disorders. Cellular therapy of the ischemic heart has been attempted in more than 1000 patients worldwide and the results of the first meta-analysis studies have been recently made available. In several cases, the results did not fulfill the expectations. In fact, they unpredictably indicated modest, yet significant, clinical benefits in patients compared to the outstanding results using stem cells in animal models of ischemic heart and peripheral disease. Several interpretations have been raised to explain these discrepancies. These include lifestyle and risk factor-associated modifications of the stem cell biological activity, but also procedural problems in the translation of cells from bench to bedside. The present review will cover light and shaded areas in the cardiovascular cellular therapy field, and will discuss about recent advances and related patents designed to enhance efficiency of stem cell therapy in patients with cardiovascular disease. These advancements will be discussed in the light of the most advanced issues that have been introduced worldwide by Regulatory Agencies. - See more at: http://www.eurekaselect.com/85525/article#sthash.lEuaE1A5.dpuf

Abstract

Neighbours have been found to influence each other’s behaviour (contagion effect). However, little is known about the influence on sport club membership. This while increasing interest has risen for the social role of sport clubs. Sport clubs could bring people from different backgrounds together. A mixed composition is a key element in this social role. Individual characteristics are strong predictors of sport club membership. Western high educated men are more likely to be members. In contrast to people with a non-Western migration background. The neighbourhood is a more fixed meeting place, which provides unique opportunities for people from different backgrounds to interact. This study aims to gain more insight into the influence of neighbours on sport club membership. This research looks especially at the composition of neighbour’s migration background, since they tend to be more or less likely to be members and therefore could encourage of inhibit each other. A population database including the only registry data of all Dutch inhabitants was merged with data of 11 sport unions. The results show a cross-level effect of neighbours on sport club membership. We find a contagion effect of neighbours’ migration background; having a larger proportion of neighbours with a migration background from a non-Western country reduces the odds, as expected. However, this contagion effect was not found for people with a Moroccan or Turkish background.

Abstract

This study examines whether the production of words with two phonological variants involves single or multiple lexical phonological representations. Three production experiments investigated the roles of the relative frequencies of the two pronunciation variants of French words with schwa: the schwa variant (e.g., Image ) and the reduced variant (e.g., Image ). In two naming tasks and in a symbol–word association learning task, variants with higher relative frequencies were produced faster. This suggests that the production lexicon keeps a frequency count for each variant and hence that schwa words are represented in the production lexicon with two different lexemes. In addition, the advantage for schwa variants over reduced variants in the naming tasks but not in the learning task and the absence of a variant relative frequency effect for schwa variants produced in isolation support the hypothesis that context affects the variants’ lexical activation and modulates the effect of variant relative frequency.

Abstract

From the earliest months of life, infants prefer listening to and learn better from infant-directed speech (IDS) than adult-directed speech (ADS). Yet, IDS differs within communities, across languages, and across cultures, both in form and in prevalence. This large-scale, multi-site study used the diversity of bilingual infant experiences to explore the impact of different types of linguistic experience on infants’ IDS preference. As part of the multi-lab ManyBabies project, we compared lab-matched samples of 333 bilingual and 385 monolingual infants’ preference for North-American English IDS (cf. ManyBabies Consortium, in press (MB1)), tested in 17 labs in 7 countries. Those infants were tested in two age groups: 6–9 months (the younger sample) and 12–15 months (the older sample). We found that bilingual and monolingual infants both preferred IDS to ADS, and did not differ in terms of the overall magnitude of this preference. However, amongst bilingual infants who were acquiring North-American English (NAE) as a native language, greater exposure to NAE was associated with a stronger IDS preference, extending the previous finding from MB1 that monolinguals learning NAE as a native language showed a stronger preference than infants unexposed to NAE. Together, our findings indicate that IDS preference likely makes a similar contribution to monolingual and bilingual development, and that infants are exquisitely sensitive to the nature and frequency of different types of language input in their early environments.

Abstract

Heschl's gyrus (HG) is a core region of the auditory cortex whose morphology is highly variable across individuals. This variability has been linked to sound perception ability in both speech and music domains. Previous studies show that variations in morphological features of HG, such as cortical surface area and thickness, are heritable. To identify genetic variants that affect HG morphology, we conducted a genome-wide association scan (GWAS) meta-analysis in 3054 healthy individuals using HG surface area and thickness as quantitative traits. None of the single nucleotide polymorphisms (SNPs) showed association P values that would survive correction for multiple testing over the genome. The most significant association was found between right HG area and SNP rs72932726 close to gene DCBLD2 (3q12.1; P=2.77x10(-7)). This SNP was also associated with other regions involved in speech processing. The SNP rs333332 within gene KALRN (3q21.2; P=2.27x10(-6)) and rs143000161 near gene COBLL1 (2q24.3; P=2.40x10(-6)) were associated with the area and thickness of left HG, respectively. Both genes are involved in the development of the nervous system. The SNP rs7062395 close to the X-linked deafness gene POU3F4 was associated with right HG thickness (Xq21.1; P=2.38x10(-6)). This is the first molecular genetic analysis of variability in HG morphology

Abstract

This study examined whether musical training, ethnicity, and experience with a natural tone language influenced sensitivity to tone while listening to an artificial tone language. The language was designed with three tones, modeled after level-tone African languages. Participants listened to a 15-min random concatenation of six 3-syllable words. Sensitivity to tone was assessed using minimal pairs differing only in one syllable (nonword task: e.g., to-kà-su compared to ca-fí-to) or only in tone (tone task: e.g., to-kà-su compared to to-ká-su). Proficiency in an East Asian heritage language was the strongest predictor of success on the tone task. Asians without tone language experience were no better than other ethnic groups. We conclude by considering implications for research on second language learning, especially as approached through artificial language learning.

Abstract

Pediatric myelodysplastic syndrome (MDS) is a heterogeneous disease covering a spectrum ranging from aplasia (RCC) to myeloproliferation (RAEB(t)). In adult-type MDS there is increasing evidence for abnormal function of the bone-marrow microenvironment. Here, we extensively studied the mesenchymal stromal cells (MSCs) derived from children with MDS. MSCs were expanded from the bone-marrow of 17 MDS patients (RCC: n = 10 and advanced MDS: n = 7) and pediatric controls (n = 10). No differences were observed with respect to phenotype, differentiation capacity, immunomodulatory capacity or hematopoietic support. mRNA expression analysis by Deep-SAGE revealed increased IL-6 expression in RCC- and RAEB(t)-MDS. RCC-MDS MSC expressed increased levels of DKK3, a protein associated with decreased apoptosis. RAEB(t)-MDS revealed increased CRLF1 and decreased DAPK1 expressions. This pattern has been associated with transformation in hematopoietic malignancies. Genes reported to be differentially expressed in adult MDS-MSC did not differ between MSC of pediatric MDS and controls. An altered mRNA expression profile, associated with cell survival and malignant transformation, of MSC derived from children with MDS strengthens the hypothesis that the micro-environment is of importance in this disease. Our data support the understanding that pediatric and adult MDS are two different diseases. Further evaluation of the pathways involved might reveal additional therapy targets.

Abstract

An aberrant interaction between hematopoietic stem cells and mesenchymal stromal cells has been linked to disease and shown to contribute to the pathophysiology of hematologic malignancies in murine models. Juvenile myelomonocytic leukemia is an aggressive malignant disease affecting young infants. Here we investigated the impact of juvenile myelomonocytic leukemia on mesenchymal stromal cells. Mesenchymal stromal cells were expanded from bone marrow samples of patients at diagnosis (n=9) and after hematopoietic stem cell transplantation (n=7; from 5 patients) and from healthy children (n=10). Cells were characterized by phenotyping, differentiation, gene expression analysis (of controls and samples obtained at diagnosis) and in vitro functional studies assessing immunomodulation and hematopoietic support. Mesenchymal stromal cells from patients did not differ from controls in differentiation capacity nor did they differ in their capacity to support in vitro hematopoiesis. Deep-SAGE sequencing revealed differential mRNA expression in patient-derived samples, including genes encoding proteins involved in immunomodulation and cell-cell interaction. Selected gene expression normalized during remission after successful hematopoietic stem cell transplantation. Whereas natural killer cell activation and peripheral blood mononuclear cell proliferation were not differentially affected, the suppressive effect on monocyte to dendritic cell differentiation was increased by mesenchymal stromal cells obtained at diagnosis, but not at time of remission. This study shows that active juvenile myelomonocytic leukemia affects the immune response-related gene expression and function of mesenchymal stromal cells. In contrast, the differential gene expression of hematopoiesis-related genes could not be supported by functional data. Decreased immune surveillance might contribute to the therapy resistance and progression in juvenile myelomonocytic leukemia.

Abstract

Modulations of occipito-parietal α-band (8–14 Hz) power that are opposite in direction (α-enhancement vs. α-suppression) and origin of generation (ipsilateral vs. contralateral to the locus of attention) are a robust correlate of anticipatory visuospatial attention. Yet, the neural generators of these α-band modulations, their interdependence across homotopic areas, and their respective contribution to subsequent perception remain unclear. To shed light on these questions, we employed magnetoencephalography, while human volunteers performed a spatially cued detection task. Replicating previous findings, we found α-power enhancement ipsilateral to the attended hemifield and contralateral α-suppression over occipitoparietal sensors. Source localization (beamforming) analysis showed that α-enhancement and suppression were generated in 2 distinct brain regions, located in the dorsal and ventral visual streams, respectively. Moreover, α-enhancement and suppression showed different dynamics and contribution to perception. In contrast to the initial and transient dorsal α-enhancement, α-suppression in ventro-lateral occipital cortex was sustained and influenced subsequent target detection. This anticipatory biasing of ventrolateral extrastriate α-activity probably reflects increased receptivity in the brain region specialized in processing upcoming target features. Our results add to current models on the role of α-oscillations in attention orienting by showing that α-enhancement and suppression can be dissociated in time, space, and perceptual relevance.

Abstract

Eyetracking facilities are typically restricted to monitoring a single person viewing static images or pre-recorded video. In the present article, we describe a system that makes it possible to study visual attention in coordination with other activity during joint action. The software links two eyetracking systems in parallel and provides an on-screen task. By locating eye movements against dynamic screen regions, it permits automatic tracking of moving on-screen objects. Using existing SR technology, the system can also cross-project each participant's eyetrack and mouse location onto the other's on-screen work space. Keeping a complete record of eyetrack and on-screen events in the same format as subsequent human coding, the system permits the analysis of multiple modalities. The software offers new approaches to spontaneous multimodal communication: joint action and joint attention. These capacities are demonstrated using an experimental paradigm for cooperative on-screen assembly of a two-dimensional model. The software is available under an open source license.

Abstract

A class of semantic theories defines concepts in terms of statistical distributions of lexical items, basing meaning on vectors of word co-occurrence frequencies. A different approach emphasizes abstract hierarchical taxonomic relationships among concepts. However, the functional relevance of these different accounts and how they capture information-encoding of meaning in the brain still remains elusive.

We investigated to what extent distributional and taxonomic models explained word-elicited neural responses using cross-validated representational similarity analysis (RSA) of functional magnetic resonance imaging (fMRI) and novel model comparisons.

Our findings show that the brain encodes both types of semantic similarities, but in distinct cortical regions. Posterior middle temporal regions reflected word links based on hierarchical taxonomies, along with the action-relatedness of the semantic word categories. In contrast, distributional semantics best predicted the representational patterns in left inferior frontal gyrus (LIFG, BA 47). Both representations coexisted in angular gyrus supporting semantic binding and integration. These results reveal that neuronal networks with distinct cortical distributions across higher-order association cortex encode different representational properties of word meanings. Taxonomy may shape long-term lexical-semantic representations in memory consistently with sensorimotor details of semantic categories, whilst distributional knowledge in the LIFG (BA 47) enable semantic combinatorics in the context of language use.

Our approach helps to elucidate the nature of semantic representations essential for understanding human language.

Abstract

When we talk we communicate our intentions. Although the origin of intentional action is debated in cognitive neuroscience, the question of how the brain generates the intention in speech remains still open. Using magnetoencephalography, we investigated the cortical dynamics engaged when healthy subjects attended to either their intention to speak or their actual speech. We found that activity in the right and left parietal cortex increased before subjects became aware of intending to speak. Within the time window of parietal activation, we also observed a transient left frontal activity in Broca's area, a crucial region for inner speech. During attention to speech, neural activity was detected in left prefrontal and temporal areas and in the temporoparietal junction. In agreement with previous results, our findings suggest that the parietal cortex plays a multimodal role in monitoring intentional mechanisms in both action and language. The coactivation of parietal regions and Broca's area may constitute the cortical circuit specific for controlling intentional processes during speech.

Abstract

Dyslexia is a common heritable developmental disorder involving impaired reading abilities. Its genetic underpinnings are thought to be complex and heterogeneous, involving common and rare genetic variation. Multigenerational families segregating apparent monogenic forms of language-related disorders can provide useful entrypoints into biological pathways. In the present study, we performed a genome-wide linkage scan in a three-generational family in which dyslexia affects 14 of its 30 members and seems to be transmitted with an autosomal dominant pattern of inheritance. We identified a locus on chromosome 7q21.11 which cosegregated with dyslexia status, with the exception of two cases of phenocopy (LOD = 2.83). Whole-genome sequencing of key individuals enabled the assessment of coding and noncoding variation in the family. Two rare single-nucleotide variants (rs144517871 and rs143835534) within the first intron of the SEMA3C gene cosegregated with the 7q21.11 risk haplotype. In silico characterization of these two variants predicted effects on gene regulation, which we functionally validated for rs144517871 in human cell lines using luciferase reporter assays. SEMA3C encodes a secreted protein that acts as a guidance cue in several processes, including cortical neuronal migration and cellular polarization. We hypothesize that these intronic variants could have a cis-regulatory effect on SEMA3C expression, making a contribution to dyslexia susceptibility in this family.

Abstract

Can simple motor actions affect how efficiently people retrieve emotional memories, and influence what they choose to remember? In Experiment 1, participants were prompted to retell autobiographical memories with either positive or negative valence, while moving marbles either upward or downward. They retrieved memories faster when the direction of movement was congruent with the valence of the memory (upward for positive, downward for negative memories). Given neutral-valence prompts in Experiment 2, participants retrieved more positive memories when instructed to move marbles up, and more negative memories when instructed to move them down, demonstrating a causal link from motion to emotion. Results suggest that positive and negative life experiences are implicitly associated with schematic representations of upward and downward motion, consistent with theories of metaphorical mental representation. Beyond influencing the efficiency of memory retrieval, the direction of irrelevant, repetitive motor actions can also partly determine the emotional content of the memories people retrieve: moving marbles upward (an ostensibly meaningless action) can cause people to think more positive thoughts.

Abstract

According to the body-specificity hypothesis, people with different bodily characteristics should form correspondingly different mental representations, even in highly abstract conceptual domains. In a previous test of this proposal, right- and left-handers were found to associate positive ideas like intelligence, attractiveness, and honesty with their dominant side and negative ideas with their non-dominant side. The goal of the present study was to determine whether ‘body-specific’ associations of space and valence can be observed beyond the laboratory in spontaneous behavior, and whether these implicit associations have visible consequences.

Abstract

What is the relationship between space and time in the human mind? Studies in adults show an asymmetric relationship between mental representations of these basic dimensions of experience: Representations of time depend on space more than representations of space depend on time. Here we investigated the relationship between space and time in the developing mind. Native Greek-speaking children watched movies of two animals traveling along parallel paths for different distances or durations and judged the spatial and temporal aspects of these events (e.g., Which animal went for a longer distance, or a longer time?). Results showed a reliable cross-dimensional asymmetry. For the same stimuli, spatial information influenced temporal judgments more than temporal information influenced spatial judgments. This pattern was robust to variations in the age of the participants and the type of linguistic framing used to elicit responses. This finding demonstrates a continuity between space-time representations in children and adults, and informs theories of analog magnitude representation.

Abstract

The rate at which young children are directly spoken to varies due to many factors, including (a) caregiver ideas about children as conversational partners and (b) the organization of everyday life. Prior work suggests cross-cultural variation in rates of child-directed speech is due to the former factor, but has been fraught with confounds in comparing postindustrial and subsistence farming communities. We investigate the daylong language environments of children (0;0–3;0) on Rossel Island, Papua New Guinea, a small-scale traditional community where prior ethnographic study demonstrated contingency-seeking child interaction styles. In fact, children were infrequently directly addressed and linguistic input rate was primarily affected by situational factors, though children’s vocalization maturity showed no developmental delay. We compare the input characteristics between this community and a Tseltal Mayan one in which near-parallel methods produced comparable results, then briefly discuss the models and mechanisms for learning best supported by our findings.

Abstract

Specific language impairment (SLI), an unexpected failure to develop appropriate language skills despite adequate non-verbal intelligence, is a heterogeneous multifactorial disorder with a complex genetic basis. We identified a homozygous microdeletion of 21,379 bp in the ZNF277 gene (NM_021994.2), encompassing exon 5, in an individual with severe receptive and expressive language impairment. The microdeletion was not found in the proband’s affected sister or her brother who had mild language impairment. However, it was inherited from both parents, each of whom carries a heterozygous microdeletion and has a history of language problems. The microdeletion falls within the AUTS1 locus, a region linked to autistic spectrum disorders (ASDs). Moreover, ZNF277 is adjacent to the DOCK4 and IMMP2L genes, which have been implicated in ASD. We screened for the presence of ZNF277 microdeletions in cohorts of children with SLI or ASD and panels of control subjects. ZNF277 microdeletions were at an increased allelic frequency in SLI probands (1.1%) compared with both ASD family members (0.3%) and independent controls (0.4%). We performed quantitative RT-PCR analyses of the expression of IMMP2L, DOCK4 and ZNF277 in individuals carrying either an IMMP2L_DOCK4 microdeletion or a ZNF277 microdeletion. Although ZNF277 microdeletions reduce the expression of ZNF277, they do not alter the levels of DOCK4 or IMMP2L transcripts. Conversely, IMMP2L_DOCK4 microdeletions do not affect the expression levels of ZNF277. We postulate that ZNF277 microdeletions may contribute to the risk of language impairments in a manner that is independent of the autism risk loci previously described in this region.

Abstract

Eye gaze is a ubiquitous cue in child-caregiver interactions and infants are highly attentive to eye gaze from very early on. However, the question of why infants show gaze-sensitive behavior, and what role this sensitivity to gaze plays in their language development, is not yet well-understood. To gain a better understanding of the role of eye gaze in infants’ language learning, we conducted a broad systematic review of the developmental literature for all studies that investigate the role of eye gaze in infants’ language development. Across 77 peer-reviewed articles containing data from typically-developing human infants (0-24 months) in the domain of language development we identified two broad themes. The first tracked the effect of eye gaze on four developmental domains: (1) vocabulary development, (2) word-object mapping, (3) object processing, and (4) speech processing. Overall, there is considerable evidence that infants learn more about objects and are more likely to form word-object mappings in the presence of eye gaze cues, both of which are necessary for learning words. In addition, there is good evidence for longitudinal relationships between infants’ gaze following abilities and later receptive and expressive vocabulary. However, many domains (e.g. speech processing) are understudied; further work is needed to decide whether gaze effects are specific to tasks such as word-object mapping, or whether they reflect a general learning enhancement mechanism. The second theme explored the reasons why eye gaze might be facilitative for learning, addressing the question of whether eye gaze is treated by infants as a specialized socio-cognitive cue. We concluded that the balance of evidence supports the idea that eye gaze facilitates infants’ learning by enhancing their arousal, memory and attentional capacities to a greater extent than other low-level attentional cues. However, as yet, there are too few studies that directly compare the effect of eye gaze cues and non-social, attentional cues for strong conclusions to be drawn. We also suggest there might be a developmental effect, with eye gaze, over the course of the first two years of life, developing into a truly ostensive cue that enhances language learning across the board.

Abstract

Emergentist approaches to language acquisition identify a core role for language-specific experience and give primacy to other factors like function and domain-general learning mechanisms in syntactic development. This directly contrasts with a nativist structurally oriented approach, which predicts that grammatical development is guided by Universal Grammar and that structural factors constrain acquisition. Cantonese relative clauses (RCs) offer a good opportunity to test these perspectives because its typologically rare properties decouple the roles of frequency and complexity in subject- and object-RCs in a way not possible in European languages. Specifically, Cantonese object RCs of the classifier type are frequently attested in children’s linguistic experience and are isomorphic to frequent and early-acquired simple SVO transitive clauses, but according to formal grammatical analyses Cantonese subject RCs are computationally less demanding to process. Thus, the two opposing theories make different predictions: the emergentist approach predicts a specific preference for object RCs of the classifier type, whereas the structurally oriented approach predicts a subject advantage. In the current study we revisited this issue. Eighty-seven monolingual Cantonese children aged between 3;2 and 3;11 (Mage: 3;6) participated in an elicited production task designed to elicit production of subject- and object- RCs. The children were very young and most of them produced only noun phrases when RCs were elicited. Those (nine children) who did produce RCs produced overwhelmingly more object RCs than subject RCs, even when animacy cues were controlled. The majority of object RCs produced were the frequent classifier-type RCs. The findings concur with our hypothesis from the emergentist perspectives that input frequency and formal and functional similarity to known structures guide acquisition.

Abstract

Lexicalized theories of syntax often assume that verb-structure regularities are mediated by lemmas, which abstract over variation in verb tense and aspect. German syntax seems to challenge this assumption, because verb position depends on tense and aspect. To examine how German speakers link these elements, a structural priming study was performed which varied syntactic structure, verb position (encoded by tense and aspect), and verb overlap. Abstract structural priming was found, both within and across verb position, but priming was larger when the verb position was the same between prime and target. Priming was boosted by verb overlap, but there was no interaction with verb position. The results can be explained by a lemma model where tense and aspect are linked to structural choices in German. Since the architecture of this lemma model is not consistent with results from English, a connectionist model was developed which could explain the cross-linguistic variation in the production system. Together, these findings support the view that language learning plays an important role in determining the nature of structural priming in different languages

Abstract

Theories from the psychology of communication may be applicable in understanding why hand-off communication is inherently problematic. The purpose of this study was to assess whether postcall pediatric interns can correctly estimate the patient care information and rationale received by on-call interns during hand-off communication. METHODS: Pediatric interns at the University of Chicago were interviewed about the hand-off. Postcall interns were asked to predict what on-call interns would report as the important pieces of information communicated during the hand-off about each patient, with accompanying rationale. Postcall interns also guessed on-call interns' rating of how well the hand-offs went. Then, on-call interns were asked to list the most important pieces of information for each patient that postcall interns communicated during the hand-off, with accompanying rationale. On-call interns also rated how well the hand-offs went. Interns had access to written hand-offs during the interviews. RESULTS: We conducted 52 interviews, which constituted 59% of eligible interviews. Seventy-two patients were discussed. The most important piece of information about a patient was not successfully communicated 60% of the time, despite the postcall intern's believing that it was communicated. Postcall and on-call interns did not agree on the rationales provided for 60% of items. In addition, an item was more likely to be effectively communicated when it was a to-do item (65%) or an item related to anticipatory guidance (69%) compared with a knowledge item (38%). Despite the lack of agreement on content and rationale of information communicated during hand-offs, peer ratings of hand-off quality were high. CONCLUSIONS: Pediatric interns overestimated the effectiveness of their hand-off communication. Theories from communication psychology suggest that miscommunication is caused by egocentric thought processes and a tendency for the speaker to overestimate the receiver's understanding. This study demonstrates that systematic causes of miscommunication may play a role in hand-off quality.

Abstract

While detecting genetic variations underlying brain structures helps reveal mechanisms of neural disorders, high data dimensionality poses a major challenge for imaging genomic association studies. In this work, we present the application of a recently proposed approach, parallel independent component analysis with reference (pICA-R), to investigate genomic factors potentially regulating gray matter variation in a healthy population. This approach simultaneously assesses many variables for an aggregate effect and helps to elicit particular features in the data. We applied pICA-R to analyze gray matter density (GMD) images (274,131 voxels) in conjunction with single nucleotide polymorphism (SNP) data (666,019 markers) collected from 1,256 healthy individuals of the Brain Imaging Genetics (BIG) study. Guided by a genetic reference derived from the gene GNA14, pICA-R identified a significant SNP-GMD association (r = −0.16, P = 2.34 × 10−8), implying that subjects with specific genotypes have lower localized GMD. The identified components were then projected to an independent dataset from the Mind Clinical Imaging Consortium (MCIC) including 89 healthy individuals, and the obtained loadings again yielded a significant SNP-GMD association (r = −0.25, P = 0.02). The imaging component reflected GMD variations in frontal, precuneus, and cingulate regions. The SNP component was enriched in genes with neuronal functions, including synaptic plasticity, axon guidance, molecular signal transduction via PKA and CREB, highlighting the GRM1, PRKCH, GNA12, and CAMK2B genes. Collectively, our findings suggest that GNA12 and GNA14 play a key role in the genetic architecture underlying normal GMD variation in frontal and parietal regions

Abstract

This article aims to clarify misunderstandings over the relation between production and comprehension in the acquisition of the focus-to-accentuation mapping and shed new light on this issue on the basis of experimental data obtained from Dutch-speaking children. The reanalysis of recent production data on children's and adult's intonational marking of focus reveals that 4- to 5-year-olds can use accentuation to mark non-contrastive narrow focus in question–answer dialogues, although they accent the focal noun slightly less frequently than adults in both sentence-initial and sentence-final positions and tend to accent the noun in sentence-final position to seek confirmation. Regarding comprehension, the processing of accentuation as a cue to non-contrastive narrow focus was examined in question–answer dialogues by means of the RT technique. It was found that 4- to 5-year-olds can process the mapping of non-contrastive narrow focus to accentuation although they need longer processing time than adults. Based on these results, it is argued that children's comprehension is similar to their production at the age of 4 or 5, contra the earlier claim that production precedes comprehension in the acquisition of the focus-to-accentuation mapping. In both production and comprehension, children exhibit similar patterns to adults but are not yet fully adult-like. However, the difference between adults and children is mainly of a gradient nature.

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

Some Trobriand Islands string figures by Stephan Claassen, Best, the Netherlands, and Joseph D'Antoni, Queens, New York, USA, in cooperation with Gunter Senft, Max Planck Institute for Psycholinguistics, Nijmegen, Netherlands (pages 72-128) - The construction and execution of fourteen string figures from the Trobriand Islands is given, along with accompanying chants (in the original, and in translation) and comparative notes. The figures were made during a 1984 string figure performance by two ladies in the village of Tauwema, on the island of Kaile’una. The performance was filmed by a team of German researchers. One of the figures appears to be not recorded before, and the construction method of another figure was hitherto unknown. Some of the other figures have their own peculiarities.

Abstract

Previous research has shown significant effects of race and accent on children’s developing social preferences. Accounts of the primacy of accent biases in the evolution and ontogeny of discriminant cooperation have been proposed, but lack systematic cross-cultural investigation. We report three controlled studies conducted with 5−10 year old children across four towns in the Brazilian Amazon, selected for their variation in racial and accent homogeneity/heterogeneity. Study 1 investigated participants’ (N = 289) decisions about friendship and sharing across color-contrasted pairs of target individuals: Black-White, Black-Pardo (Brown), Pardo-White. Study 2 (N = 283) investigated effects of both color and accent (Local vs Non-Local) on friendship and sharing decisions. Overall, there was a significant bias toward the lighter colored individual. A significant preference for local accent mitigates but does not override the color bias, except in the site characterized by both racial and accent heterogeneity. Results also vary by participant age and color. Study 3 (N = 235) reports results of an accent discrimination task that shows an overall increase in accuracy with age. The research suggests that cooperative preferences based on accent and race develop differently in response to locally relevant parameters of racial and linguistic variation.

Abstract

Explanatory accounts of the emergence, spread, storage, persistence, and transformation of knowledge face numerous theoretical and methodological challenges. This paper argues that although anthropologists are uniquely positioned to address some of these challenges, joint engagement with relevant research in neighbouring disciplines holds considerable promise for advancement in the area. Researchers across the human and social sciences are increasingly recognizing the importance of conjointly operative and mutually contingent bodily, cognitive, neural, and social mechanisms informing the generation and communication of knowledge. Selected cognitive scientific work, in particular, is reviewed here and used to illustrate how anthropology may potentially richly contribute not only to descriptive and interpretive endeavours, but to the development and substantiation of explanatory accounts also. Résumé Les comptes-rendus portant sur l'émergence, la diffusion, la conservation, la persistance et la transformation des connaissances se heurtent à de nombreuses difficultés théoriques et méthodologiques. Bien que les anthropologues soient particulièrement bien placés pour affronter ces défis, des progrès considérables pourraient être réalisés en la matière dans le cadre d'une approche conjointe avec des disciplines voisines menant des recherches connexes. Les adeptes du décloisonnement des sciences humaines et sociales reconnaissent de plus en plus l'importance des interactions et interdépendances entre mécanismes physiques, cognitifs, neurologiques et sociaux dans la production et la communication des connaissances. Des travaux scientifiques choisis, en matière de cognition en particulier, sont examinés et utilisés pour illustrer la manière dont l'anthropologie pourrait apporter une riche contribution non seulement aux tâches descriptives et interprétatives, mais aussi à l'élaboration et la mise à l'épreuve de comptes-rendus explicatifs.

Abstract

Physical exercise is known to stimulate the release of endorphins, creating a mild sense of euphoria that has rewarding properties. Using pain tolerance (a conventional non-invasive
assay for endorphin release), we show that synchronized training in a college rowing crew creates a heightened endorphin surge compared
with a similar training regime carried out alone. This heightened effect from synchronized activity may explain the sense of euphoria experienced
during other social activities (such as
laughter, music-making and dancing) that are involved in social bonding in humans and possibly other vertebrates

Abstract

Processing speech in a non-native language requires listeners to cope with influences from their first language and to overcome the effects of limited exposure and experience. These factors may be particularly important when listening in adverse conditions. However,native listeners also suffer in noise, and the intelligibility of speech in noise clearly depends on factors which are independent of a listener’s first language. The current study explored the issue of language-independence by comparing the responses of eight listener groups differing in native language when confronted with the task of identifying English intervocalic consonants in three masker backgrounds, viz.stationary speech-shaped noise, temporally-modulated speech-shaped noise and competing English speech. The study analysed the effects of (i) noise type, (ii) speaker, (iii) vowel context, (iv) consonant, (v) phonetic feature classes, (vi) stress position, (vii) gender and (viii) stimulus onset relative to noise onset. A significant degree of similarity in the response to many of these factors was evident across all eight language groups, suggesting that acoustic and auditory considerations play a large role in determining intelligibility. Language- specific influences were observed in the rankings of individual consonants and in the masking effect of competing speech relative to speech-modulated noise.

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

Speech processing can often take place in adverse listening conditions that involve the mixing of speech and background noise. In this study, we investigated processing dependencies between background noise and indexical speech features, using a speeded classification paradigm (Garner, 1974; Exp. 1), and whether background noise is encoded and represented in memory for spoken words in a continuous recognition memory paradigm (Exp. 2). Whether or not the noise spectrally overlapped with the speech signal was also manipulated. The results of Experiment 1 indicated that background noise and indexical features of speech (gender, talker identity) cannot be completely segregated during processing, even when the two auditory streams are spectrally nonoverlapping. Perceptual interference was asymmetric, whereby irrelevant indexical feature variation in the speech signal slowed noise classification to a greater extent than irrelevant noise variation slowed speech classification. This asymmetry may stem from the fact that speech features have greater functional relevance to listeners, and are thus more difficult to selectively ignore than background noise. Experiment 2 revealed that a recognition cost for words embedded in different types of background noise on the first and second occurrences only emerged when the noise and the speech signal were spectrally overlapping. Together, these data suggest integral processing of speech and background noise, modulated by the level of processing and the spectral separation of the speech and noise.

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

In this study we test the hypothesis that symbolic play represents a fertile context for language acquisition because its inherent ambiguity elicits communicative behaviours that positively influence development. Infant-caregiver dyads (N = 54) participated in two 20-minute play sessions six months apart (Time 1 = 18 months, Time 2 = 24 months). During each session the dyads played with two sets of toys that elicited either symbolic or functional play. The sessions were transcribed and coded for several features of dyadic interaction and speech; infants’ linguistic proficiency was measured via parental report. The two play contexts resulted in different communicative and linguistic behaviour. Notably, the symbolic play condition resulted in significantly greater conversational turn-taking than functional play, and also resulted in the greater use of questions and mimetics in infant-directed speech (IDS). In contrast, caregivers used more imperative clauses in functional play. Regression analyses showed that unique properties of symbolic play (i.e., turn-taking, yes-no questions, mimetics) positively predicted children’s language proficiency, whereas unique features of functional play (i.e., imperatives in IDS) negatively predicted proficiency. The results provide evidence in support of the hypothesis that symbolic play is a fertile context for language development, driven by the need to negotiate meaning.

Abstract

Recent constituent priming experiments show that Dutch and German prefixed verbs prime their stem, regardless of semantic transparency (e.g. Smolka et al. [(2014). ‘Verstehen’ (‘understand’) primes ‘stehen’ (‘stand’): Morphological structure overrides semantic compositionality in the lexical representation of German complex verbs. Journal of Memory and Language, 72, 16–36. https://doi.org/10.1016/j.jml.2013.12.002]). We examine whether the processing of opaque verbs (e.g. herhalen “repeat”) involves the retrieval of only the whole-word meaning, or whether the lexical-semantic meaning of the stem (halen as “take/get”) is retrieved as well. We report the results of an auditory semantic priming experiment with Dutch prefixed verbs, testing whether the recognition of a semantic associate to the stem (BRENGEN “bring”) is facilitated by the presentation of an opaque prefixed verb. In contrast to prior visual studies, significant facilitation after semantically opaque primes is found, which suggests that the lexical-semantic meaning of stems in opaque words is retrieved. We examine the implications that these findings have for auditory word recognition, and for the way in which different types of meanings are represented and processed.

Abstract

In the previous decade, dozens of studies involving thousands of children across several research disciplines have made use of a combined daylong audio-recorder and automated algorithmic analysis called the LENAⓇ system, which aims to assess children’s language environment. While the system’s prevalence in the language acquisition domain is steadily growing, there are only scattered validation efforts on only some of its key characteristics. Here, we assess the LENAⓇ system’s accuracy across all of its key measures: speaker classification, Child Vocalization Counts (CVC), Conversational Turn Counts (CTC), and Adult Word Counts (AWC). Our assessment is based on manual annotation of clips that have been randomly or periodically sampled out of daylong recordings, collected from (a) populations similar to the system’s original training data (North American English-learning children aged 3-36 months), (b) children learning another dialect of English (UK), and (c) slightly older children growing up in a different linguistic and socio-cultural setting (Tsimane’ learners in rural Bolivia). We find reasonably high accuracy in some measures (AWC, CVC), with more problematic levels of performance in others (CTC, precision of male adults and other children). Statistical analyses do not support the view that performance is worse for children who are dissimilar from the LENAⓇ original training set. Whether LENAⓇ results are accurate enough for a given research, educational, or clinical application depends largely on the specifics at hand. We therefore conclude with a set of recommendations to help researchers make this determination for their goals.

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

The hypothesis that vocalic categories are enhanced in infant-directed speech (IDS) has received a great deal of attention and support. In contrast, work focusing on the acoustic implementation of consonantal categories has been scarce, and positive, negative, and null results have been reported. However, interpreting this mixed evidence is complicated by the facts that the definition of phonetic enhancement varies across articles, that small and heterogeneous groups have been studied across experiments, and further that the categories chosen are likely affected by other characteristics of IDS. Here, an analysis of the English sibilants /s/ and /ʃ/ in a large corpus of caregivers’ speech to another adult and to their infant suggests that consonantal categories are indeed enhanced, even after controlling for typical IDS prosodic characteristics.

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

Social tolerance is a core aspect of primate social relationships with implications for the evolution of cooperation, prosociality and social learning. We measured the social tolerance of bonobos in an experiment recently validated with chimpanzees to allow for a comparative assessment of group-level tolerance, and found that the bonobo group studied here exhibited lower social tolerance on average than chimpanzees. Furthermore, following the Relational Model [de Waal, 1996], we investigated whether bonobos responded to an increased potential for social conflict with tolerance, conflict avoidance or conflict escalation, and found that only behaviours indicative of conflict escalation differed across conditions. Taken together, these findings contribute to the current debate over the level of social tolerance of bonobos and lend support to the position that the social tolerance of bonobos may not be notably high compared with other primates.

Abstract

Studies of animal behavior consistently demonstrate that the social environment impacts cooperation, yet the effect of social dynamics has been largely excluded from studies of human cooperation. Here, we introduce a novel approach inspired by nonhuman primate research to address how social hierarchies impact human cooperation. Participants competed to earn hierarchy positions and then could cooperate with another individual in the hierarchy by investing in a common effort. Cooperation was achieved if the combined investments exceeded a threshold, and the higher ranked individual distributed the spoils unless control was contested by the partner. Compared to a condition lacking hierarchy, cooperation declined in the presence of a hierarchy due to a decrease in investment by lower ranked individuals. Furthermore, hierarchy was detrimental to cooperation regardless of whether it was earned or arbitrary. These findings mirror results from nonhuman primates and demonstrate that hierarchies are detrimental to cooperation. However, these results deviate from nonhuman primate findings by demonstrating that human behavior is responsive to changing hierarchical structures and suggests partnership dynamics that may improve cooperation. This work introduces a controlled way to investigate the social influences on human behavior, and demonstrates the evolutionary continuity of human behavior with other primate species.

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

The cooperative breeding hypothesis posits that cooperatively breeding species are motivated to act prosocially, that is, to behave in ways that provide benefits to others, and that cooperative breeding has played a central role in the evolution of human prosociality. However, investigations of prosocial behaviour in cooperative breeders have produced varying results and the mechanisms contributing to this variation are unknown. We investigated whether reciprocity would facilitate prosocial behaviour among cottontop tamarins, a cooperatively breeding primate species likely to engage in reciprocal altruism, by comparing the number of food rewards transferred to partners who had either immediately previously provided or denied rewards to the subject. Subjects were also tested in a non-social control condition. Overall, results indicated that reciprocity increased food transfers. However, temporal analyses revealed that when the tamarins' behaviour was evaluated in relation to the non-social control, results were best explained by (i) an initial depression in the transfer of rewards to partners who recently denied rewards, and (ii) a prosocial effect that emerged late in sessions independent of reciprocity. These results support the cooperative breeding hypothesis, but suggest a minimal role for positive reciprocity, and emphasize the importance of investigating proximate temporal mechanisms underlying prosocial behaviour.

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

Handedness has been extensively studied because of its relationship with language and the over-representation of left-handers in some neurodevelopmental disorders. Using data from the UK Biobank, 23andMe and the International Handedness Consortium, we conducted a genome-wide association meta-analysis of handedness (N = 1,766,671). We found 41 loci associated (P < 5 × 10−8) with left-handedness and 7 associated with ambidexterity. Tissue-enrichment analysis implicated the CNS in the aetiology of handedness. Pathways including regulation of microtubules and brain morphology were also highlighted. We found suggestive positive genetic correlations between left-handedness and neuropsychiatric traits, including schizophrenia and bipolar disorder. Furthermore, the genetic correlation between left-handedness and ambidexterity is low (rG = 0.26), which implies that these traits are largely influenced by different genetic mechanisms. Our findings suggest that handedness is highly polygenic and that the genetic variants that predispose to left-handedness may underlie part of the association with some psychiatric disorders.

Abstract

Listeners learn from their past experience of listening to spoken words, and use this learning to maximise the efficiency of future word recognition. This paper summarises evidence that the facilitatory effects of drawing on past experience are mediated by abstraction, enabling learning to be generalised across new words and new listening situations. Phoneme category retuning, which allows adaptation to speaker-specific articulatory characteristics, is generalised on the basis of relatively brief experience to words previously unheard from that speaker. Abstract knowledge of prosodic regularities is applied to recognition even of novel words for which these regularities were violated. Prosodic word-boundary regularities drive segmentation of speech into words independently of the membership of the lexical candidate set resulting from the segmentation operation. Each of these different cases illustrates how abstraction from past listening experience has contributed to the efficiency of lexical recognition.

Abstract

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

Abstract

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

In three experiments, the processing of lexical tone in Cantonese was examined. Cantonese listeners more often accepted a nonword as a word when the only difference between the nonword and the word was in tone, especially when the F0 onset difference between correct and erroneous tone was small. Same–different judgments by these listeners were also slower and less accurate when the only difference between two syllables was in tone, and this was true whether the F0 onset difference between the two tones was large or small. Listeners with no knowledge of Cantonese produced essentially the same same-different judgment pattern as that produced by the native listeners, suggesting that the results display the effects of simple perceptual processing rather than of linguistic knowledge. It is argued that the processing of lexical tone distinctions may be slowed, relative to the processing of segmental distinctions, and that, in speeded-response tasks, tone is thus more likely to be misprocessed than is segmental structure.

Abstract

Research on the exploitation of prosodic information in the recognition of spoken language is reviewed. The research falls into three main areas: the use of prosody in the recognition of spoken words, in which most attention has been paid to the question of whether the prosodic structure of a word plays a role in initial contact with stored lexical representations; the use of prosody in the computation of syntactic structure, in which the resolution of global and local ambiguities has formed the central focus; and the role of prosody in the processing of discourse structure, in which there has been a preponderance of work on the contribution of accentuation and deaccentuation to integration of concepts with an existing discourse model. The review reveals that in each area progress has been made towards new conceptions of prosody's role in processing, and in particular this has involved abandonment of previously held deterministic views of the relationship between prosodic structure and other aspects of linguistic structure

Abstract

Orthographies encode phonological information only at the level of words (chiefly, the information encoded concerns phonetic segments; in some cases, tonal information or default stress may be encoded). Of primary interest to second language (L2) learners is whether orthography can assist in clarifying L2 phonological distinctions that are particularly difficult to perceive (e.g., where one native-language phonemic category captures two L2 categories). A review of spoken-word recognition evidence suggests that orthographic information can install knowledge of such a distinction in lexical representations but that this does not affect learners’ ability to perceive the phonemic distinction in speech. Words containing the difficult phonemes become even harder for L2 listeners to recognize, because perception maps less accurately to lexical content.

Abstract

Psycholinguists strive to construct a model of human language processing in general. But this does not imply that they should confine their research to universal aspects of linguistic structure, and avoid research on language-specific phenomena. First, even universal characteristics of language structure can only be accurately observed cross-linguistically. This point is illustrated here by research on the role of the syllable in spoken-word recognition, on the perceptual processing of vowels versus consonants, and on the contribution of phonetic assimilation phonemena to phoneme identification. In each case, it is only by looking at the pattern of effects across languages that it is possible to understand the general principle. Second, language-specific processing can certainly shed light on the universal model of language comprehension. This second point is illustrated by studies of the exploitation of vowel harmony in the lexical segmentation of Finnish, of the recognition of Dutch words with and without vowel epenthesis, and of the contribution of different kinds of lexical prosodic structure (tone, pitch accent, stress) to the initial activation of candidate words in lexical access. In each case, aspects of the universal processing model are revealed by analysis of these language-specific effects. In short, the study of spoken-language processing by human listeners requires cross-linguistic comparison.

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 realized. 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 spelling was rendered salient by the presence in the experiment of many irregularly spelled filler words. Within the inconsistent targets [f, s, k], there was no significant difference between responses to targets in words with more usual (foam, seed, cattle) versus less usual (phone, cede, kettle) spellings. Phoneme detection is thus not necessarily sensitive to orthographic effects; knowledge of spelling stored in the lexical representations of words does not automatically become available as word candidates are activated. However, salient orthographic manipulations in experimental input can induce such sensitivity. We attribute this to listeners' experience of the value of spelling in everyday situations that encourage phonemic decisions (such as learning new names)

Abstract

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

Abstract

Adverse listening conditions always make the perception of speech harder, but their deleterious effect is far greater if the speech we are trying to understand is in a non-native language. An imperfect signal can be coped with by recourse to the extensive knowledge one has of a native language, and imperfect knowledge of a non-native language can still support useful communication when speech signals are high-quality. But the combination of imperfect signal and imperfect knowledge leads rapidly to communication breakdown. This phenomenon is undoubtedly well known to every reader of Speech Communication from personal experience. Many readers will also have a professional interest in explaining, or remedying, the problems it produces. The journal’s readership being a decidedly interdisciplinary one, this interest will involve quite varied scientific approaches, including (but not limited to) modelling the interaction of first and second language vocabularies and phonemic repertoires, developing targeted listening training for language learners, and redesigning the acoustics of classrooms and conference halls. In other words, the phenomenon that this special issue deals with is a well-known one, that raises important scientific and practical questions across a range of speech communication disciplines, and Speech Communication is arguably the ideal vehicle for presentation of such a breadth of approaches in a single volume. The call for papers for this issue elicited a large number of submissions from across the full range of the journal’s interdisciplinary scope, requiring the guest editors to apply very strict criteria to the final selection. Perhaps unique in the history of treatments of this topic is the combination represented by the guest editors for this issue: a phonetician whose primary research interest is in second-language speech (MLGL), an engineer whose primary research field is the acoustics of masking in speech processing (MC), and a psychologist whose primary research topic is the recognition of spoken words (AC). In the opening article of the issue, these three authors together review the existing literature on listening to second-language speech under adverse conditions, bringing together these differing perspectives for the first time in a single contribution. The introductory review is followed by 13 new experimental reports of phonetic, acoustic and psychological studies of the topic. The guest editors thank Speech Communication editor Marc Swerts and the journal’s team at Elsevier, as well as all the reviewers who devoted time and expert efforts to perfecting the contributions to this issue.

Abstract

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

Abstract

This study evaluates whether early vocalizations develop in similar ways in children across diverse cultural contexts. We analyze data from daylong audio recordings of 49 children (1–36 months) from five different language/cultural backgrounds. Citizen scientists annotated these recordings to determine if child vocalizations contained canonical transitions or not (e.g., “ba” vs. “ee”). Results revealed that the proportion of clips reported to contain canonical transitions increased with age. Furthermore, this proportion exceeded 0.15 by around 7 months, replicating and extending previous findings on canonical vocalization development but using data from the natural environments of a culturally and linguistically diverse sample. This work explores how crowdsourcing can be used to annotate corpora, helping establish developmental milestones relevant to multiple languages and cultures. Lower inter‐annotator reliability on the crowdsourcing platform, relative to more traditional in‐lab expert annotators, means that a larger number of unique annotators and/or annotations are required, and that crowdsourcing may not be a suitable method for more fine‐grained annotation decisions. Audio clips used for this project are compiled into a large‐scale infant vocalization corpus that is available for other researchers to use in future work.

Abstract

Aims Circulating microRNAs (miRNAs) may represent a novel class of biomarkers; therefore, we examined whether acute myocardial infarction (MI) modulates miRNAs plasma levels in humans and mice. Methods and results Healthy donors (n = 17) and patients (n = 33) with acute ST-segment elevation MI (STEMI) were evaluated. In one cohort (n = 25), the first plasma sample was obtained 517 ± 309 min after the onset of MI symptoms and after coronary reperfusion with percutaneous coronary intervention (PCI); miR-1, -133a, -133b, and -499-5p were ∼15- to 140-fold control, whereas miR-122 and -375 were ∼87–90% lower than control; 5 days later, miR-1, -133a, -133b, -499-5p, and -375 were back to baseline, whereas miR-122 remained lower than control through Day 30. In additional patients (n = 8; four treated with thrombolysis and four with PCI), miRNAs and troponin I (TnI) were quantified simultaneously starting 156 ± 72 min after the onset of symptoms and at different times thereafter. Peak miR-1, -133a, and -133b expression and TnI level occurred at a similar time, whereas miR-499-5p exhibited a slower time course. In mice, miRNAs plasma levels and TnI were measured 15 min after coronary ligation and at different times thereafter. The behaviour of miR-1, -133a, -133b, and -499-5p was similar to STEMI patients; further, reciprocal changes in the expression levels of these miRNAs were found in cardiac tissue 3–6 h after coronary ligation. In contrast, miR-122 and -375 exhibited minor changes and no significant modulation. In mice with acute hind-limb ischaemia, there was no increase in the plasma level of the above miRNAs. Conclusion Acute MI up-regulated miR-1, -133a, -133b, and -499-5p plasma levels, both in humans and mice, whereas miR-122 and -375 were lower than control only in STEMI patients. These miRNAs represent novel biomarkers of cardiac damage.

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

We present written naming norms from 153 young adult Dutch speakers for 1397 photographs (the BOSS set; see Brodeur, Dionne-Dostie, Montreuil, & Lepage, 2010; Brodeur, Guérard, & Bouras, 2014). From the norming study, we report the preferred (modal) name, alternative names, name agreement, and average object agreement. In addition, the data base includes Zipf frequency, word prevalence and Age of Acquisition for the modal picture names collected. Furthermore, we describe a subset of 359 photographs with very good name agreement and a subset of 35 photos with two common names. These sets may be particularly valuable for designing experiments. Though the participants typed the object names, comparisons with other datasets indicate that the collected norms are valuable for spoken naming studies as well.

Abstract

Understanding the mechanisms that drive variation in children’s language acquisition requires large, population-representative datasets of children’s word learning across development. Parent report measures such as the MacArthur-Bates Communicative Development Inventories (CDI) are commonly used to collect such data, but the traditional paper-based forms make the curation of large datasets logistically challenging. Many CDI datasets are thus gathered using convenience samples, often recruited from communities in proximity to major research institutions. Here, we introduce Web-CDI, a web-based tool which allows researchers to collect CDI data online. Web-CDI contains functionality to collect and manage longitudinal data, share links to test administrations, and download vocabulary scores. To date, over 3,500 valid Web-CDI administrations have been completed. General trends found in past norming studies of the CDI are present in data collected from Web-CDI: scores of children’s productive vocabulary grow with age, female children show a slightly faster rate of vocabulary growth, and participants with higher levels of educational attainment report slightly higher vocabulary production scores than those with lower levels of education attainment. We also report results from an effort to oversample non-white, lower-education participants via online recruitment (N = 241). These data showed similar demographic trends to the full sample but this effort resulted in a high exclusion rate. We conclude by discussing implications and challenges for the collection of large, population-representative datasets.

Abstract

The discovery of the FOXP2 transcription factor, and its implication in a rare severe human speech and language disorder, has led to two decades of empirical studies focused on uncovering its roles in the brain using a range of in vitro and in vivo methods. Here, we discuss what we have learned about the regulation of FOXP2, its downstream effectors, and its modes of action as a transcription factor in brain development and function, providing an integrated overview of what is currently known about the critical molecular networks.

Abstract

Whereas large-scale statistical analyses can robustly identify disease-gene relationships, they do not accurately capture genotype-phenotype correlations or disease mechanisms. We use multiple lines of independent evidence to show that different variant types in a single gene, SATB1, cause clinically overlapping but distinct neurodevelopmental disorders. Clinical evaluation of 42 individuals carrying SATB1 variants identified overt genotype-phenotype relationships, associated with different pathophysiological mechanisms, established by functional assays. Missense variants in the CUT1 and CUT2 DNA-binding domains result in stronger chromatin binding, increased transcriptional repression and a severe phenotype. Contrastingly, variants predicted to result in haploinsufficiency are associated with a milder clinical presentation. A similarly mild phenotype is observed for individuals with premature protein truncating variants that escape nonsense-mediated decay and encode truncated proteins, which are transcriptionally active but mislocalized in the cell. Our results suggest that in-depth mutation-specific genotype-phenotype studies are essential to capture full disease complexity and to explain phenotypic variability.

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