Publications

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

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

A major finding in studies of early vocabulary acquisition has been that children tend to learn a lot of nouns early but make do with relatively few verbs, among which semantically general-purpose verbs like do, make, get, have, give, come, go, and be play a prominent role. The preponderance of nouns is explained in terms of nouns labelling concrete objects beings “easier” to learn than verbs, which label relational categories. Nouns label “natural categories” observable in the world, verbs label more linguistically and culturally specific categories of events linking objects belonging to such natural categories (Gentner 1978, 1982; Clark 1993). This view has been challenged recently by data from children learning certain non-Indo-European languges like Korean, where children have an early verb explosion and verbs dominate in early child utterances. Children learning the Mayan language Tzeltal also acquire verbs early, prior to any noun explosion as measured by production. Verb types are roughly equivalent to noun types in children’s beginning production vocabulary and soon outnumber them. At the one-word stage children’s verbs mostly have the form of a root stripped of affixes, correctly segmented despite structural difficulties. Quite early (before the MLU 2.0 point) there is evidence of productivity of some grammatical markers (although they are not always present): the person-marking affixes cross-referencing core arguments, and the completive/incompletive aspectual distinctions. The Tzeltal facts argue against a natural-categories explanation for childre’s early vocabulary, in favor of a view emphasizing the early effects of language-specific properties of the input. They suggest that when and how a child acquires a “verb” category is centrally influenced by the structural properties of the input, and that the semantic structure of the language - where the referential load is concentrated - plays a fundamental role in addition to distributional facts.

Abstract

When Tzeltal children in the Mayan community of Tenejapa, in southern Mexico, begin speaking, their production vocabulary consists predominantly of verb roots, in contrast to the dominance of nouns in the initial vocabulary of first‐language learners of Indo‐European languages. This article proposes that a particular Tzeltal conversational feature—known in the Mayanist literature as "dialogic repetition"—provides a context that facilitates the early analysis and use of verbs. Although Tzeltal babies are not treated by adults as genuine interlocutors worthy of sustained interaction, dialogic repetition in the speech the children are exposed to may have an important role in revealing to them the structural properties of the language, as well as in socializing the collaborative style of verbal interaction adults favor in this community.

Abstract

This is a Spanish translation of Brown 1997.

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

This paper explores how static topological spatial relations such as contiguity, contact, containment, and support are expressed in the Mayan language Tzeltal. Three distinct Tzeltal systems for describing spatial relationships - geographically anchored (place names, geographical coordinates), viewer-centered (deictic), and object-centered (body parts, relational nouns, and dispositional adjectives) - are presented, but the focus here is on the object-centered system of dispositional adjectives in static locative expressions. Tzeltal encodes shape/position/configuration gestalts in verb roots; predicates formed from these are an essential element in locative descriptions. Specificity of shape in the predicate allows spatial reltaions between figure and ground objects to be understood by implication. Tzeltal illustrates an alternative stragegy to that of prepositional languages like English: rather than elaborating shape distinctions in the nouns and minimizing them in the locatives, Tzeltal encodes shape and configuration very precisely in verb roots, leaving many object nouns unspecified for shape. The Tzeltal case thus presents a direct challenge to cognitive science claims that, in both languge and cognition, WHAT is kept distinct from WHERE.

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

Background: Despite a pervasive cortico-centric view in cognitive neuroscience, subcortical structures including the thalamus have been shown to be increasingly involved in higher cognitive functions. Previous structural and functional imaging studies demonstrated cortico-thalamo-cortical loops which may support various cognitive functions including language. However, large-scale functional connectivity of the thalamus during language tasks has not been examined before. Methods: The present study employed meta-analytic connectivity modeling to identify language-related coactivation patterns of the left and right thalami. The left and right thalami were used as regions of interest to search the BrainMap functional database for neuroimaging experiments with healthy participants reporting language-related activations in each region of interest. Activation likelihood estimation analyses were then carried out on the foci extracted from the identified studies to estimate functional convergence for each thalamus. A functional decoding analysis based on the same database was conducted to characterize thalamic contributions to different language functions. Results: The results revealed bilateral frontotemporal and bilateral subcortical (basal ganglia) coactivation patterns for both the left and right thalami, and also right cerebellar coactivations for the left thalamus, during language processing. In light of previous empirical studies and theoretical frameworks, the present connectivity and functional decoding findings suggest that cortico-subcortical-cerebellar-cortical loops modulate and fine-tune information transfer within the bilateral frontotemporal cortices during language processing, especially during production and semantic operations, but also other language (e.g., syntax, phonology) and cognitive operations (e.g., attention, cognitive control). Conclusion: The current findings show that the language-relevant network extends beyond the classical left perisylvian cortices and spans bilateral cortical, bilateral subcortical (bilateral thalamus, bilateral basal ganglia) and right cerebellar regions.

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

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

The human brain can process facial expressions of emotions rapidly and without awareness. Several studies in patients with damage to their primary visual cortices have shown that they may be able to guess the emotional expression on a face despite their cortical blindness. This non-conscious processing, called affective blindsight, may arise through an intact subcortical visual route that leads from the superior colliculus to the pulvinar, and thence to the amygdala. This pathway is thought to process the crude visual information conveyed by the low spatial frequencies of the stimuli.

In order to investigate whether this is the case, we studied a patient (TN) with bilateral cortical blindness and affective blindsight. An fMRI paradigm was performed in which fearful and neutral expressions were presented using faces that were either unfiltered, or filtered to remove high or low spatial frequencies. Unfiltered fearful faces produced right amygdala activation although the patient was unaware of the presence of the stimuli. More importantly, the low spatial frequency components of fearful faces continued to produce right amygdala activity while the high spatial frequency components did not. Our findings thus confirm that the visual information present in the low spatial frequencies is sufficient to produce affective blindsight, further suggesting that its existence could rely on the subcortical colliculo-pulvino-amygdalar pathway.

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

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

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

Most people have left‐hemisphere dominance for various aspects of language processing, but only roughly 1% of the adult population has atypically reversed, rightward hemispheric language dominance (RHLD). The genetic‐developmental program that underlies leftward language laterality is unknown, as are the causes of atypical variation. We performed an exploratory whole‐genome‐sequencing study, with the hypothesis that strongly penetrant, rare genetic mutations might sometimes be involved in RHLD. This was by analogy with situs inversus of the visceral organs (left‐right mirror reversal of the heart, lungs and so on), which is sometimes due to monogenic mutations. The genomes of 33 subjects with RHLD were sequenced and analyzed with reference to large population‐genetic data sets, as well as 34 subjects (14 left‐handed) with typical language laterality. The sample was powered to detect rare, highly penetrant, monogenic effects if they would be present in at least 10 of the 33 RHLD cases and no controls, but no individual genes had mutations in more than five RHLD cases while being un‐mutated in controls. A hypothesis derived from invertebrate mechanisms of left‐right axis formation led to the detection of an increased mutation load, in RHLD subjects, within genes involved with the actin cytoskeleton. The latter finding offers a first, tentative insight into molecular genetic influences on hemispheric language dominance.

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

Recent years have seen rapid technological development of devices that can record communicative behavior as participants go about daily life. This paper is intended as an end-to-end methodological guidebook for potential users of these technologies, including researchers who want to study children’s or adults’ communicative behavior in everyday contexts. We explain how long-format speech environment (LFSE) recordings provide a unique view on language use and how they can be used to complement other measures at the individual and group level. We aim to help potential users of these technologies make informed decisions regarding research design, hardware, software, and archiving. We also provide information regarding ethics and implementation, issues that are difficult to navigate for those new to this technology, and on which little or no resources are available. This guidebook offers a concise summary of information for new users and points to sources of more detailed information for more advanced users. Links to discussion groups and community-augmented databases are also provided to help readers stay up-to-date on the latest developments.

Abstract

Odor naming is enhanced in communities where communication about odors is a central part of daily life (e.g., wine experts, flavorists, and some hunter‐gatherer groups). In this study, we investigated how expert knowledge and daily experience affect the ability to name odors in a group of experts that has not previously been investigated in this context—Iranian herbalists; also called attars—as well as cooks and laypeople. We assessed naming accuracy and consistency for 16 herb and spice odors, collected judgments of odor perception, and evaluated participants' odor meta‐awareness. Participants' responses were overall more consistent and accurate for more frequent and familiar odors. Moreover, attars were more accurate than both cooks and laypeople at naming odors, although cooks did not perform significantly better than laypeople. Attars' perceptual ratings of odors and their overall odor meta‐awareness suggest they are also more attuned to odors than the other two groups. To conclude, Iranian attars—but not cooks—are better odor namers than laypeople. They also have greater meta‐awareness and differential perceptual responses to odors. These findings further highlight the critical role that expertise and type of experience have on olfactory functions.

Abstract

This study examines whether children acquiring Tseltal (Mayan) demonstrate a noun bias – an overrepresentation of nouns in their early vocabularies. Nouns, specifically concrete and animate nouns, are argued to universally predominate in children’s early vocabularies because their referents are naturally available as bounded concepts to which linguistic labels can be mapped. This early advantage for noun learning has been documented using multiple methods and across a diverse collection of language populations. However, past evidence bearing on a noun bias in Tseltal learners has been mixed. Tseltal grammatical features and child–caregiver interactional patterns dampen the salience of nouns and heighten the salience of verbs, leading to the prediction of a diminished noun bias and perhaps even an early predominance of verbs. We here analyze the use of noun and verb stems in children’s spontaneous speech from egocentric daylong recordings of 29 Tseltal learners between 0;9 and 4;4. We find weak to no evidence for a noun bias using two separate analytical approaches on the same data; one analysis yields a preliminary suggestion of a flipped outcome (i.e. a verb bias). We discuss the implications of these findings for broader theories of learning bias in early lexical development.

Abstract

FOXP proteins form a subfamily of evolutionarily conserved transcription factors involved in the development and functioning of several tissues, including the central nervous system. In humans, mutations in FOXP1 and FOXP2 have been implicated in cognitive deficits including intellectual disability and speech disorders. Drosophila exhibits a single ortholog, called FoxP, but due to a lack of characterized mutants, our understanding of the gene remains poor. Here we show that the dimerization property required for mammalian FOXP function is conserved in Drosophila. In flies, FoxP is enriched in the adult brain, showing strong expression in ~1000 neurons of cholinergic, glutamatergic and GABAergic nature. We generate Drosophila loss-of-function mutants and UAS-FoxP transgenic lines for ectopic expression, and use them to characterize FoxP function in the nervous system. At the cellular level, we demonstrate that Drosophila FoxP is required in larvae for synaptic morphogenesis at axonal terminals of the neuromuscular junction and for dendrite development of dorsal multidendritic sensory neurons. In the developing brain, we find that FoxP plays important roles in α-lobe mushroom body formation. Finally, at a behavioral level, we show that Drosophila FoxP is important for locomotion, habituation learning and social space behavior of adult flies. Our work shows that Drosophila FoxP is important for regulating several neurodevelopmental processes and behaviors that are related to human disease or vertebrate disease model phenotypes. This suggests a high degree of functional conservation with vertebrate FOXP orthologues and established flies as a model system for understanding FOXP related pathologies.

Abstract

Learning a specific skill during childhood may partly determine the functional organization of the adult brain. This hypothesis led us to study oral language processing in illiterate subjects who, for social reasons, had never entered school and had no knowledge of reading or writing. In a brain activation study using PET and statistical parametric mapping, we compared word and pseudoword repetition in literate and illiterate subjects. Our study confirms behavioural evidence of different phonological processing in illiterate subjects. During repetition of real words, the two groups performed similarly and activated similar areas of the brain. In contrast, illiterate subjects had more difficulty repeating pseudowords correctly and did not activate the same neural structures as literates. These results are consistent with the hypothesis that learning the written form of language (orthography) interacts with the function of oral language. Our results indicate that learning to read and write during childhood influences the functional organization of the adult human brain.

Abstract

Oligodendrocyte gene expression is downregulated in stress-related neuropsychiatric disorders,
including depression. In mice, chronic social stress (CSS) leads to depression-relevant changes
in brain and emotional behavior, and the present study shows the involvement of oligodendrocytes in this model. In C57BL/6 (BL/6) mice, RNA-sequencing (RNA-Seq) was conducted with
prefrontal cortex, amygdala and hippocampus from CSS and controls; a gene enrichment database for neurons, astrocytes and oligodendrocytes was used to identify cell origin of deregulated genes, and cell deconvolution was applied. To assess the potential causal contribution of
reduced oligodendrocyte gene expression to CSS effects, mice heterozygous for the oligodendrocyte gene cyclic nucleotide phosphodiesterase (Cnp1) on a BL/6 background were studied;
a 2 genotype (wildtype, Cnp1+/−
) × 2 environment (control, CSS) design was used to investigate
effects on emotional behavior and amygdala microglia. In BL/6 mice, in prefrontal cortex and
amygdala tissue comprising gray and white matter, CSS downregulated expression of multiple
oligodendroycte genes encoding myelin and myelin-axon-integrity proteins, and cell deconvolution identified a lower proportion of oligodendrocytes in amygdala. Quantification of oligodendrocyte proteins in amygdala gray matter did not yield evidence for reduced translation,
suggesting that CSS impacts primarily on white matter oligodendrocytes or the myelin transcriptome. In Cnp1 mice, social interaction was reduced by CSS in Cnp1+/− mice specifically;
using ionized calcium-binding adaptor molecule 1 (IBA1) expression, microglia activity was
increased additively by Cnp1+/− and CSS in amygdala gray and white matter. This study provides back-translational evidence that oligodendrocyte changes are relevant to the pathophysiology and potentially the treatment of stress-related neuropsychiatric disorders.

Abstract

We report on an analysis of spontaneous gesture production in 2‐year‐old children who come from three countries (Italy, United Kingdom, Australia) and who speak two languages (Italian, English), in an attempt to tease apart the influence of language and culture when comparing children from different cultural and linguistic environments. Eighty‐seven monolingual children aged 24–30 months completed an experimental task measuring their comprehension and production of nouns and predicates. The Italian children scored significantly higher than the other groups on all lexical measures. With regard to gestures, British children produced significantly fewer pointing and speech combinations compared to Italian and Australian children, who did not differ from each other. In contrast, Italian children produced significantly more representational gestures than the other two groups. We conclude that spoken language development is primarily influenced by the input language over gesture production, whereas the combination of cultural and language environments affects gesture production.

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

The environment in which infants learn language is multimodal and rich with social cues. Yet, the effects of such cues, such as eye contact, on early speech perception have not been closely examined. This study assessed the role of ostensive speech, signalled through the speaker's eye gaze direction, on infants’ word segmentation abilities. A familiarisation-then-test paradigm was used while electroencephalography (EEG) was recorded. Ten-month-old Dutch-learning infants were familiarised with audio-visual stories in which a speaker recited four sentences with one repeated target word. The speaker addressed them either with direct or with averted gaze while speaking. In the test phase following each story, infants heard familiar and novel words presented via audio-only. Infants’ familiarity with the words was assessed using event-related potentials (ERPs). As predicted, infants showed a negative-going ERP familiarity effect to the isolated familiarised words relative to the novel words over the left-frontal region of interest during the test phase. While the word familiarity effect did not differ as a function of the speaker's gaze over the left-frontal region of interest, there was also a (not predicted) positive-going early ERP familiarity effect over right fronto-central and central electrodes in the direct gaze condition only. This study provides electrophysiological evidence that infants can segment words from audio-visual speech, regardless of the ostensiveness of the speaker's communication. However, the speaker's gaze direction seems to influence the processing of familiar words.

Abstract

Expressions of politeness such as 'please' are prominent elements of interactional conduct that are explicitly targeted in early socialization and are subject to cultural expectations around socially desirable behavior. Yet their specific interactional functions remain poorly understood. Using conversation analysis supplemented with systematic coding, this study investigates when and where interactants use 'please' in everyday requests. We find that 'please' is rare, occurring in only 7 percent of request attempts. Interactants use 'please' to manage face-threats when a request is ill fitted to its immediate interactional context. Within this, we identify two environments in which 'please' prototypically occurs. First, 'please' is used when the requestee has demonstrated unwillingness to comply. Second, 'please' is used when the request is intrusive due to its incompatibility with the requestee’s engagement in a competing action trajectory. Our findings advance research on politeness and extend Goffman’s theory of face-work, with particular salience for scholarship on request behavior.

Abstract

Cognitive development is shaped by interactions between cognitive architecture and environmental experiences
of the growing brain. We examined the extent to which this interaction during development could be observed in
language processing. We focused on age of acquisition (AoA) effects in reading, where early-learned words tend
to be processed more quickly and accurately relative to later-learned words. We implemented a computational
model including representations of print, sound and meaning of words, with training based on children’s gradual
exposure to language. The model produced AoA effects in reading and lexical decision, replicating the larger
effects of AoA when semantic representations are involved. Further, the model predicted that AoA would relate
to differing use of the reading system, with words acquired before versus after literacy onset with distinctive
accessing of meaning and sound representations. An analysis of behaviour from the English Lexicon project was
consistent with the predictions: Words acquired before literacy are more likely to access meaning via sound,
showing a suppressed AoA effect, whereas words acquired after literacy rely more on direct print to meaning
mappings, showing an exaggerated AoA effect. The reading system reveals vestigial traces of acquisition reflected
in differing use of word representations during reading.

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

Diversity of vocabulary knowledge and quantity of language exposure prior to literacy are key predictors of reading development. However, diversity and quantity of exposure are difficult to distinguish in behavioural studies, and so the causal relations with literacy are not well known. We tested these relations by training a connectionist triangle model of reading that learned to map between semantic; phonological; and, later, orthographic forms of words. The model first learned to map between phonology and semantics, where we manipulated the quantity and diversity of this preliterate language experience. Then the model learned to read. Both diversity and quantity of exposure had unique effects on reading performance, with larger effects for written word comprehension than for reading fluency. The results further showed that quantity of preliteracy language exposure was beneficial only when this was to a varied vocabulary and could be an impediment when exposed to a limited vocabulary.

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

This study examines acoustic and aerodynamic characteristics of consonants in standard Korean and in Cheju, an endangered Korean language. The focus is on the well-known three-way distinction among voiceless stops (i.e., lenis, fortis, aspirated) and the two-way distinction between the voiceless fricatives /s/ and /s*/. While such a typologically unusual contrast among voiceless stops has long drawn the attention of phoneticians and phonologists, there is no single work in the literature that discusses a body of data representing a relatively large number of speakers. This study reports a variety of acoustic and aerodynamic measures obtained from 12 Korean speakers (four speakers of Seoul Korean and eight speakers of Cheju). Results show that, in addition to findings similar to those reported by others, there are three crucial points worth noting. Firstly, lenis, fortis, and aspirated stops are systematically differentiated from each other by the voice quality of the following vowel. Secondly, these stops are also differentiated by aerodynamic mechanisms. The aspirated and fortis stops are similar in supralaryngeal articulation, but employ a different relation between intraoral pressure and flow. Thirdly, our study suggests that the fricative /s/ is better categorized as “lenis” rather than “aspirated”. The paper concludes with a discussion of the implications of Korean data for theories of the voicing contrast and their phonological representations.

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

In a semantic priming paradigm, the effects of different levels of processing on the N400 were assessed by changing the task demands. In the lexical decision task, subjects had to discriminate between words and nonwords and in the physical task, subjects had to discriminate between uppercase and lowercase letters. The proportion of related versus unrelated word pairs differed between conditions. A lexicality test on reaction times demonstrated that the physical task was performed nonlexically. Moreover, a semantic priming reaction time effect was obtained only in the lexical decision task. The level of processing clearly affected the event-related potentials. An N400 priming effect was only observed in the lexical decision task. In contrast, in the physical task a P300 effect was observed for either related or unrelated targets, depending on their frequency of occurrence. Taken together, the results indicate that an N400 priming effect is only evoked when the task performance induces the semantic aspects of words to become part of an episodic trace of the stimulus event.

Abstract

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

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

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

Abstract

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

Four cross-modal priming experiments and two forced-choice identification experiments investigated the use of suprasegmental cues to stress in the recognition of spoken English words, by native (English-speaking) and non- native (Dutch) listeners. Previous results had indicated that suprasegmental information was exploited in lexical access by Dutch but not by English listeners. For both listener groups, recognition of visually presented target words was faster, in comparison to a control condition, after stress-matching spoken primes, either monosyllabic (mus- from MUsic /muSEum) or bisyl labic (admi- from ADmiral/admiRAtion). For native listeners, the effect of stress-mismatching bisyllabic primes was not different from that of control primes, but mismatching monosyllabic primes produced partial facilitation. For non-native listeners, both bisyllabic and monosyllabic stress-mismatching primes produced partial facilitation. Native English listeners thus can exploit suprasegmental information in spoken-word recognition, but information from two syllables is used more effectively than information from one syllable. Dutch listeners are less proficient at using suprasegmental information in English than in their native language, but, as in their native language, use mono- and bisyllabic information to an equal extent. In forced-choice identification, Dutch listeners outperformed native listeners at correctly assigning a monosyllabic fragment (e.g., mus-) to one of two words differing in stress.

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

Importance
Previous studies indicated that female sex might be a modifier in Stargardt disease, which is an ABCA4-associated retinopathy.

Objective
To investigate whether women are overrepresented among individuals with ABCA4-associated retinopathy who are carrying at least 1 mild allele or carrying nonmild alleles.

Data Sources
Literature data, data from 2 European centers, and a new study. Data from a Radboudumc database and from the Rotterdam Eye Hospital were used for exploratory hypothesis testing.

Study Selection
Studies investigating the sex ratio in individuals with ABCA4-AR and data from centers that collected ABCA4 variant and sex data. The literature search was performed on February 1, 2023; data from the centers were from before 2023.

Data Extraction and Synthesis
Random-effects meta-analyses were conducted to test whether the proportions of women among individuals with ABCA4-associated retinopathy with mild and nonmild variants differed from 0.5, including subgroup analyses for mild alleles. Sensitivity analyses were performed excluding data with possibly incomplete variant identification. χ2 Tests were conducted to compare the proportions of women in adult-onset autosomal non–ABCA4-associated retinopathy and adult-onset ABCA4-associated retinopathy and to investigate if women with suspected ABCA4-associated retinopathy are more likely to obtain a genetic diagnosis. Data analyses were performed from March to October 2023.

Main Outcomes and Measures
Proportion of women per ABCA4-associated retinopathy group. The exploratory testing included sex ratio comparisons for individuals with ABCA4-associated retinopathy vs those with other autosomal retinopathies and for individuals with ABCA4-associated retinopathy who underwent genetic testing vs those who did not.

Results
Women were significantly overrepresented in the mild variant group (proportion, 0.59; 95% CI, 0.56-0.62; P < .001) but not in the nonmild variant group (proportion, 0.50; 95% CI, 0.46-0.54; P = .89). Sensitivity analyses confirmed these results. Subgroup analyses on mild variants showed differences in the proportions of women. Furthermore, in the Radboudumc database, the proportion of adult women among individuals with ABCA4-associated retinopathy (652/1154 = 0.56) was 0.10 (95% CI, 0.05-0.15) higher than among individuals with other retinopathies (280/602 = 0.47).

Conclusions and Relevance
This meta-analysis supports the likelihood that sex is a modifier in developing ABCA4-associated retinopathy for individuals with a mild ABCA4 allele. This finding may be relevant for prognosis predictions and recurrence risks for individuals with ABCA4-associated retinopathy. Future studies should further investigate whether the overrepresentation of women is caused by differences in the disease mechanism, by differences in health care–seeking behavior, or by health care discrimination between women and men with ABCA4-AR.

Abstract

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

Abstract

To answer a question, speakers must determine their response and formulate it in words. But do they decide on a response before formulation, or do they formulate different potential answers before selecting one? We addressed this issue in a verbal question-answering experiment. Participants answered questions more quickly when they had one potential answer (e.g., Which tourist attraction in Paris is very tall?) than when they had multiple potential answers (e.g., What is the name of a Shakespeare play?). Participants also answered more quickly when the set of potential answers were on average short rather than long, regardless of whether there was only one or multiple potential answers. Thus, participants were not affected by the linguistic complexity of unselected but plausible answers. These findings suggest that participants select a single answer before formulation.

Abstract

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

Abstract

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

Abstract

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

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

Abstract

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

Abstract

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

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

Abstract

Rhythmic categories such as morae in Japanese or stress units in English play a role in the perception of spoken
language. We examined this role in Japanese, since recent evidence suggests that morae may intervene as
structural units in word recognition. First, we found that traditional puns more often substituted part of a mora
than a whole mora. Second, when listeners reconstructed distorted words, e.g. panorama from panozema, responses
were faster and more accurate when only a phoneme was distorted (panozama, panorema) than when a
whole CV mora was distorted (panozema). Third, lexical decisions on the same nonwords were better predicted
by duration and number of phonemes from nonword uniqueness point to word end than by number of morae. Our
results indicate no role for morae in early spoken-word processing; we propose that rhythmic categories constrain
not initial lexical activation but subsequent processes of speech segmentation and selection among word candidates.

Abstract

Recognizing spoken language involves automatic activation of multiple candidate words. The process of selection between candidates is made more efficient by inhibition of embedded words (like egg in beg) that leave a portion of the input stranded (here, b). Results from European languages suggest that this inhibition occurs when consonants are stranded but not when syllables are stranded. The reason why leftover syllables do not lead to inhibition could be that in principle they might themselves be words; in European languages, a syllable can be a word. In Sesotho (a Bantu language), however, a single syllable cannot be a word. We report that in Sesotho, word recognition is inhibited by stranded consonants, but stranded monosyllables produce no more difficulty than stranded bisyllables (which could be Sesotho words). This finding suggests that the viability constraint which inhibits spurious embedded word candidates is not sensitive to language-specific word structure, but is universal.

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

Becoming a native listener is the necessary precursor to becoming a native speaker. Babies in the first year of life undertake a remarkable amount of work; by the time they begin to speak, they have perceptually mastered the phonological repertoire and phoneme co-occurrence probabilities of the native language, and they can locate familiar word-forms in novel continuous-speech contexts. The skills acquired at this early stage form a necessary part of adult listening. However, the same native listening skills also underlie problems in listening to a late-acquired non-native language, accounting for why in such a case listening (an innate ability) is sometimes paradoxically more difficult than, for instance, reading (a learned ability).

Abstract

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

Abstract

The recognition of speech involves the segmentation of continuous utterances into their component words. Cross-linguistic evidence is briefly reviewed which suggests that although there are language-specific solutions to this segmentation problem, they have one thing in common: they are all based on language rhythm. In English, segmentation is stress-based: strong syllables are postulated to be the onsets of words. Segmentation, however, can also be achieved by a process of competition between activated lexical hypotheses, as in the Shortlist model. A series of experiments is summarised showing that segmentation of continuous speech depends on both lexical competition and a metrically-guided procedure. In the final section, the implementation of metrical segmentation in the Shortlist model is described: the activation of lexical hypotheses matching strong syllables in the input is boosted and that of hypotheses mismatching strong syllables in the input is penalised.

Abstract

Japanese listeners detect speech sound targets which correspond precisely to a mora (a phonological unit which is the unit of rhythm in Japanese) more easily than targets which do not. English listeners detect medial vowel targets more slowly than consonants. Six phoneme detection experiments investigated these effects in both subject populations, presented with native- and foreign-language input. Japanese listeners produced faster and more accurate responses to moraic than to nonmoraic targets both in Japanese and, where possible, in English; English listeners responded differently. The detection disadvantage for medial vowels appeared with English listeners both in English and in Japanese; again, Japanese listeners responded differently. Some processing operations which listeners apply to speech input are language-specific; these language-specific procedures, appropriate for listening to input in the native language, may be applied to foreign-language input irrespective of whether they remain appropriate.

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

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

One of a listener's major tasks in understanding continuous speech is segmenting the speech signal into separate words. When listening conditions are difficult, speakers can help listeners by deliberately speaking more clearly. In four experiments, we examined how word boundaries are produced in deliberately clear speech. In an earlier report we showed that speakers do indeed mark word boundaries in clear speech, by pausing at the boundary and lengthening pre-boundary syllables; moreover, these effects are applied particularly to boundaries preceding weak syllables. In English, listeners use segmentation procedures which make word boundaries before strong syllables easier to perceive; thus marking word boundaries before weak syllables in clear speech will make clear precisely those boundaries which are otherwise hard to perceive. The present report presents supplementary data, namely prosodic analyses of the syllable following a critical word boundary. More lengthening and greater increases in intensity were applied in clear speech to weak syllables than to strong. Mean F0 was also increased to a greater extent on weak syllables than on strong. Pitch movement, however, increased to a greater extent on strong syllables than on weak. The effects were, however, very small in comparison to the durational effects we observed earlier for syllables preceding the boundary and for pauses at the boundary.

Abstract

The role of accent in reference resolution was investigated by monitoring eye fixations to lexical competitors (e.g., candy and candle ) as participants followed prerecorded instructions to move objects above or below fixed geometric shapes using a computer mouse. In Experiment 1, the first utterance instructed participants to move one object above or below a shape (e.g., “Put the candle/candy below the triangle”) and the second utterance contained an accented or deaccented definite noun phrase which referred to the same object or introduced a new entity (e.g., “Now put the CANDLE above the square” vs. “Now put the candle ABOVE THE SQUARE”). Fixations to the competitor (e.g., candy ) demonstrated a bias to interpret deaccented nouns as anaphoric and accented nouns as nonanaphoric. Experiment 2 used only accented nouns in the second instruction, varying whether the referent of this second instruction was the Theme of the first instruction (e.g., “Put the candle below the triangle”) or the Goal of the first instruction (e.g., “Put the necklace below the candle”). Participants preferred to interpret accented noun phrases as referring to a previously mentioned nonfocused entity (the Goal) rather than as introducing a new unmentioned entity.

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

Humans can easily extract the rhythm of a complex sound, like music, and move to its regular beat, like in dance. These abilities are modulated by musical training and vary significantly in untrained individuals. The causes of this variability are multidimensional and typically hard to grasp in single tasks. To date we lack a comprehensive model capturing the rhythmic fingerprints of both musicians and non-musicians. Here we harnessed machine learning to extract a parsimonious model of rhythmic abilities, based on behavioral testing (with perceptual and motor tasks) of individuals with and without formal musical training (n = 79). We demonstrate that variability in rhythmic abilities and their link with formal and informal music experience can be successfully captured by profiles including a minimal set of behavioral measures. These findings highlight that machine learning techniques can be employed successfully to distill profiles of rhythmic abilities, and ultimately shed light on individual variability and its relationship with both formal musical training and informal musical experiences.

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

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

Abstract

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

Abstract

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

Abstract

European cooperative effort seeks best practices architecture and procedures for international sites

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

Developing efficient electromagnetic interference shielding materials has become significantly important in present times. This paper reports a series of (Ba1-xCax)(Ti0.9Sn0.1)O3 (BCTS) ((x =0, 0.01, 0.05, & 0.1)ceramics synthesized by conventional method which were studied for electromagnetic interference shielding (EMI) applications in X-band (8-12.4 GHz). EMI shielding properties and all S parameters (S11 & S12) of BCTS ceramic pellets were measured in the frequency range (8-12.4 GHz) using a Vector Network Analyser (VNA). The BCTS ceramic pellets for x = 0.05 showed maximum total effective shielding of 46 dB indicating good shielding behaviour for high-frequency applications. However, the development of lead-free ceramics with different concentrations usually requires iterative experiments resulting in, longer development cycles and higher costs. To address this, we used a machine learning (ML) strategy to predict the EMI shielding for different concentrations and experimentally verify the concentration predicted to give the best EMI shielding. The ML model predicted BCTS ceramics with concentration (x = 0.06, 0.07, 0.08, and 0.09) to have higher shielding values. On experimental verification, a shielding value of 58 dB was obtained for x = 0.08, which was significantly higher than what was obtained experimentally before applying the ML approach. Our results show the potential of using ML in accelerating the process of optimal material development, reducing the need for repeated experimental measures significantly.