Publications

Abstract

In traditional theories of language comprehension, syntactic and semantic processing are inextricably linked. This assumption has been challenged by the ‘Semantic Illusion Effect’ found in studies using Event Related brain Potentials. Semantically anomalous sentences did not produce the expected increase in N400 amplitude but rather one in P600 amplitude. To explain these findings, complex models have been devised in which an independent semantic processing stream can arrive at a sentence interpretation that may differ from the interpretation prescribed by the syntactic structure of the sentence. We review five such multi-stream models and argue that they do not account for the full range of relevant results because they assume that the amplitude of the N400 indexes some form of semantic integration. Based on recent evidence we argue that N400 amplitude might reflect the retrieval of lexical information from memory. On this view, the absence of an N400-effect in Semantic Illusion sentences can be explained in terms of priming. Furthermore, we suggest that semantic integration, which has previously been linked to the N400 component, might be reflected in the P600 instead. When combined, these functional interpretations result in a single-stream account of language processing that can explain all of the Semantic Illusion data.

Abstract

This study examined whether speech-on-speech masking is sensitive to variation in the degree of similarity between the target and the masker speech. Three experiments investigated whether speech-in-speech recognition varies across different background speech languages (English vs Dutch) for both English and Dutch targets, as well as across variation in the semantic content of the background speech (meaningful vs semantically anomalous sentences), and across variation in listener status vis-à-vis the target and masker languages (native, non-native, or unfamiliar). The results showed that the more similar the target speech is to the masker speech (e.g., same vs different language, same vs different levels of semantic content), the greater the interference on speech recognition accuracy. Moreover, the listener’s knowledge of the target and the background language modulate the size of the release from masking. These factors had an especially strong effect on masking effectiveness in highly unfavorable listening conditions. Overall this research provided evidence that that the degree of target-masker similarity plays a significant role in speech-in-speech recognition. The results also give insight into how listeners assign their resources differently depending on whether they are listening to their first or second language

Abstract

In this paper presents evidence of the disputed existence of an electrophysiological marker for the lexical-categorical distinction between open- and closed-class words. Event-related brain potentials were recorded from the scalp while subjects read a story. Separate waveforms were computed for open- and closed-class words. Two aspects of the waveforms could be reliably related to vocabulary class. The first was an early negativity in the 230- to 350-msec epoch, with a bilateral anterior predominance. This negativity was elicited by open- and closed-class words alike, was not affected by word frequency or word length, and had an earlier peak latency for closed-class words. The second was a frontal slow negative shift in the 350- to 500-msec epoch, largest over the left side of the scalp. This late negativity was only elicited by closed-class words. Although the early negativity cannot serve as a qualitative marker of the open- and closed-class distinction, it does reflect the earliest electrophysiological manifestation of the availability of categorical information from the mental lexicon. These results suggest that the brain honors the distinction between open- and closed-class words, in relation to the different roles that they play in on-line sentence processing.

Abstract

In reaction to the dominance of universalism in the 1970s and '80s, there have recently been a number of reappraisals of the relation between language and cognition, and the field of cognitive anthropology is flourishing in several new directions in both America and Europe. This is partly due to a renewal and re-evaluation of approaches to the question of linguistic relativity associated with Whorf, and partly to the inspiration of modern developments in cognitive science. This review briefly sketches the history of cognitive anthropology and surveys current research on both sides of the Atlantic. The focus is on assessing current directions, considering in particular, by way of illustration, recent work in cultural models and on spatial language and cognition. The review concludes with an assessment of how cognitive anthropology could contribute directly both to the broader project of cognitive science and to the anthropological study of how cultural ideas and practices relate to structures and processes of human cognition.

Abstract

This paper addresses the vexed questions of how language relates to culture, and what kind of notion of culture is important for linguistic explanation. I first sketch five perspectives - five different construals - of culture apparent in linguistics and in cognitive science more generally. These are: (i) culture as ethno-linguistic group, (ii) culture as a mental module, (iii) culture as knowledge, (iv) culture as context, and (v) culture as a process emergent in interaction. I then present my own work on spatial language and cognition in a Mayan languge and culture, to explain why I believe a concept of culture is important for linguistics. I argue for a core role for cultural explanation in two domains: in analysing the semantics of words embedded in cultural practices which color their meanings (in this case, spatial frames of reference), and in characterizing thematic and functional links across different domains in the social and semiotic life of a particular group of people.

Abstract

This work was supported by the Max Planck Institute for Psycholinguistics and the Nederlandse Organisatie voor Wetenschappelijk Onderzoek (NWO; MPI 56-384, The Dynamics of Multilingual Processing, awarded to M Gullberg and P Indefrey).

Abstract

This is an encyclopedia entry describing conversational and interactional uses of linguistic repetition.

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

Linguistic expressions of time often draw on spatial language, which raises the question of whether cultural specificity in spatial language and cognition is reflected in thinking about time. In the Mayan language Tzeltal, spatial language relies heavily on an absolute frame of reference utilizing the overall slope of the land, distinguishing an “uphill/downhill” axis oriented from south to north, and an orthogonal “crossways” axis (sunrise-set) on the basis of which objects at all scales are located. Does this absolute system for calculating spa-tial relations carry over into construals of temporal relations? This question was explored in a study where Tzeltal consultants produced temporal expressions and performed two different non-linguistic temporal ordering tasks. The results show that at least five distinct schemata for conceptualizing time underlie Tzeltal linguistic expressions: (i) deictic ego-centered time, (ii) time as an ordered sequence (e.g., “first”/“later”), (iii) cyclic time (times of the day, seasons), (iv) time as spatial extension or location (e.g., “entering/exiting July”), and (v) a time vector extending uphillwards into the future. The non-linguistic task results showed that the “time moves uphillwards” metaphor, based on the absolute frame of reference prevalent in Tzeltal spatial language and thinking and important as well in the linguistic expressions for time, is not strongly reflected in responses on these tasks. It is argued that systematic and consistent use of spatial language in an absolute frame of reference does not necessarily transfer to consistent absolute time conceptualization in non-linguistic tasks; time appears to be more open to alternative construals.

Abstract

The Hmong Diaspora is one of the widest modern human migrations. Mainly localised in South-East Asia, the United States of America, and metropolitan France, a small community has also settled the Amazonian forest of French Guiana. We have biologically analysed 62 individuals of this unique Guianese population through three complementary genetic markers: mitochondrial DNA (HVS-I/II and coding region SNPs), Y-chromosome (SNPs and STRs), and the Gm allotypic system. All genetic systems showed a high conservation of the Asian gene pool (Asian ancestry: mtDNA = 100.0%; NRY = 99.1%; Gm = 96.6%), without a trace of founder effect. When compared across various Asian populations, the highest correlations were observed with Hmong-Mien groups still living in South-East Asia (Fst < 0.05; P-value < 0.05). Despite a long history punctuated by exodus, the French Guianese Hmong have maintained their original genetic diversity.

Abstract

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

Abstract

This article explores the lexicon of body part terms in Jahai, a Mon-Khmer language spoken by a group of hunter–gatherers in the Malay Peninsula. It provides an extensive inventory of body part terms and describes their structural and semantic properties. The Jahai body part lexicon pays attention to fine anatomical detail but lacks labels for major, ‘higher-level’ categories, like ‘trunk’, ‘limb’, ‘arm’ and ‘leg’. In this lexicon it is therefore sometimes difficult to discern a clear partonomic hierarchy, a presumed universal of body part terminology.

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

Nuclear receptors (NRs) form a large superfamily of transcription factors that participate in virtually every key biological process. They control development, fertility, gametogenesis and are misregulated in many cancers. Their enormous functional plasticity as transcription factors relates in part to NR-mediated interactions with hundreds of coregulatory proteins upon ligand (e.g., hormone) binding to their ligand binding domains (LBD), or following covalent modification. Some coregulator association relates to the distinct residues that shape a coactivator binding pocket termed AF-2, a surface groove that primarily determines the preference and specificity of protein–protein interactions. However, the highly conserved AF-2 pocket in the NR superfamily appears to be insufficient to account for NR subtype specificity leading to fine transcriptional modulation in certain settings. Additional protein–protein interaction surfaces, most notably on their LBD, may contribute to modulating NR function. NR coregulators and chaperones, normally much larger than the NR itself, may also bind to such interfaces. In the case of the androgen receptor (AR) LBD surface, structural and functional data highlighted the presence of another site named BF-3, which lies at a distinct but topographically adjacent surface to AF-2. AR BF-3 is a hot spot for mutations involved in prostate cancer and androgen insensitivity syndromes, and some FDA-approved drugs bind at this site. Structural studies suggested an allosteric relationship between AF-2 and BF-3, as occupancy of the latter affected coactivator recruitment to AF-2. Physiological relevant partners of AR BF-3 have not been described as yet. The newly discovered site is highly conserved among the steroid receptors subclass, but is also present in other NRs. Several missense mutations in the BF-3 regions of these human NRs are implicated in pathology and affect their function in vitro. The fact that AR BF-3 pocket is a druggable site evidences its pharmacological potential. Compounds that may affect allosterically NR function by binding to BF-3 open promising avenues to develop type-specific NR modulators.

Abstract

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

Abstract

Knowing what is going to happen next, that is, the capacity to predict upcoming events, modulates the extent to which aversive stimuli induce stress and anxiety. We explored this issue by manipulating the temporal predictability of aversive events by means of a visual cue, which was either correlated or uncorrelated with pain stimuli (electric shocks). Subjects reported lower levels of anxiety, negative valence and pain intensity when shocks were predictable. In addition to attenuate focus on danger, predictability allows for correct temporal estimation of, and selective attention to, the sensory input. With functional magnetic resonance imaging, we found that predictability was related to enhanced activity in relevant sensory-discriminative processing areas, such as the primary and secondary sensory cortex and posterior insula. In contrast, the unpredictable more aversive context was correlated to brain activity in the anterior insula and the orbitofrontal cortex, areas associated with affective pain processing. This context also prompted increased activity in the posterior parietal cortex and lateral prefrontal cortex that we attribute to enhanced alertness and sustained attention during unpredictability.

Abstract

Word meaning processing in the brain involves ventrolateral temporal cortex, but a semantic contribution of the dorsal stream, especially frontocentral sensorimotor areas, has been controversial. We here examine brain activation during passive reading of object-related nouns from different semantic categories, notably animal, food, and tool words, matched for a range of psycholinguistic features. Results show ventral stream activation in temporal cortex along with category-specific activation patterns in both ventral and dorsal streams, including sensorimotor systems and adjacent pFC. Precentral activation reflected action-related semantic features of the word categories. Cortical regions implicated in mouth and face movements were sparked by food words, and hand area activation was seen for tool words, consistent with the actions implicated by the objects the words are used to speak about. Furthermore, tool words specifically activated the right cerebellum, and food words activated the left orbito-frontal and fusiform areas. We discuss our results in the context of category-specific semantic deficits in the processing of words and concepts, along with previous neuroimaging research, and conclude that specific dorsal and ventral areas in frontocentral and temporal cortex index visual and affective–emotional semantic attributes of object-related nouns and action-related affordances of their referent objects.

Abstract

The present paper investigates the major derivational strategies underlying the formation of suffixed words in Italian, with the purpose of tackling the issue of their formalization. After having specified the theoretical cognitive premises that orient the work, the interacting component modules of the suffixation process, i.e. morphonology, morphotactics and affixal semantics, are explored empirically, by drawing ample naturally occurring data on a Corpus of written Italian. A special attention is paid to the semantic mechanisms that are involved into suffixation. Some semantic nuclei are identified for the major suffixed word types of Italian, which are due to word formation rules active at the synchronic level, and a semantic configuration of productive suffixes is suggested. A general framework is then sketched, which combines classical finite-state methods with a feature unification-based word grammar. More specifically, the semantic information specified for the affixal material is internalised into the structures of the Lexical Functional Grammar (LFG). The formal model allows us to integrate the various modules of suffixation. In particular, it treats, on the one hand, the interface between morphonology/morphotactics and semantics and, on the other hand, the interface between suffixation and inflection. Furthermore, since LFG exploits a hierarchically organised lexicon in order to structure the information regarding the affixal material, affixal co-selectional restrictions are advatageously constrained, avoiding potential multiple spurious analysis/generations.

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

Although the typological contrast between Romance and Germanic languages as verb-framed versus satellite-framed (Talmy 1985) forms the background for many empirical studies on L2 acquisition, the inconclusive picture to date calls for more differentiated, fine-grained analyses. The present study goes beyond explanations based on this typological contrast and takes into account the sources from which spatial concepts are mainly derived in order to shape the trajectory traced by the entity in motion when moving through space: the entity in V-languages versus features of the ground in S-languages. It investigates why advanced French learners of English and German have difficulty acquiring the use of spatial concepts typical of the L2s to shape the trajectory, although relevant concepts can be expressed in their L1. The analysis compares motion event descriptions, based on the same sets of video clips, of L1 speakers of the three languages to L1 French-L2 English and L1 French-L2 German speakers, showing that the learners do not fully acquire the use of L2-specific spatial concepts. We argue that encoded concepts derived from the entity in motion vs. the ground lead to a focus on different aspects of motion events, in accordance with their compatibility with these sources, and are difficult to restructure in L2 acquisition.

Abstract

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

Abstract

Can children’s handedness influence how they represent abstract concepts like kindness and intelligence? Here we show that from an early age, right-handers associate rightward space more strongly with positive ideas and leftward space with negative ideas, but the opposite is true for left-handers. In one experiment, children indicated where on a diagram a preferred toy and a dispreferred toy should go. Right-handers tended to assign the preferred toy to a box on the right and the dispreferred toy to a box on the left. Left-handers showed the opposite pattern. In a second experiment, children judged which of two cartoon animals looked smarter (or dumber) or nicer (or meaner). Right-handers attributed more positive qualities to animals on the right, but left-handers to animals on the left. These contrasting associations between space and valence cannot be explained by exposure to language or cultural conventions, which consistently link right with good. Rather, right- and left-handers implicitly associated positive valence more strongly with the side of space on which they can act more fluently with their dominant hands. Results support the body-specificity hypothesis (Casasanto, 2009), showing that children with different kinds of bodies think differently in corresponding ways.

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

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

Last year was the 150th anniversary of Paul Broca's landmark case report on speech disorder that paved the way for subsequent studies of cortical localization of higher cognitive functions. However, many complex functions rely on the activity of distributed networks rather than single cortical areas. Hence, it is important to understand how brain regions are linked within large-scale networks and to map lesions onto connecting white matter tracts. To facilitate this network approach we provide a synopsis of classical neurological syndromes associated with frontal, parietal, occipital, temporal and limbic lesions. A review of tractography studies in a variety of neuropsychiatric disorders is also included. The synopsis is accompanied by a new atlas of the human white matter connections based on diffusion tensor tractography freely downloadable on http://www.natbrainlab.com. Clinicians can use the maps to accurately identify the tract affected by lesions visible on conventional CT or MRI. The atlas will also assist researchers to interpret their group analysis results. We hope that the synopsis and the atlas by allowing a precise localization of white matter lesions and associated symptoms will facilitate future work on the functional correlates of human neural networks as derived from the study of clinical populations. Our goal is to stimulate clinicians to develop a critical approach to clinico-anatomical correlative studies and broaden their view of clinical anatomy beyond the cortical surface in order to encompass the dysfunction related to connecting pathways.

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

We report on an eye-tracking study that investigated four-year-old Cantonese-speaking children's online processing of subject and object relative clauses (RCs). Children's eye-movements were recorded as they listened to RC structures identifying a unique referent (e.g. “Can you pick up the horse that pushed the pig?”). Two RC types, classifier (CL) and ge3 RCs, were tested in a between-participants design. The two RC types differ in their syntactic analyses and frequency of occurrence, providing an important point of comparison for theories of RC acquisition and processing. A permutation analysis showed that the two structures were processed differently: CL RCs showed a significant object-over-subject advantage, whereas ge3 RCs showed the opposite effect. This study shows that children can have different preferences even for two very similar RC structures within the same language, suggesting that syntactic processing preferences are shaped by the unique features of particular constructions both within and across different linguistic typologies.

Abstract

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

Linguistic adaptation is a phenomenon where language representations change in response to linguistic input. Adaptation can occur on multiple linguistic levels such as phonology (tuning of phonotactic constraints), words (repetition priming), and syntax (structural priming). The persistent nature of these adaptations suggests that they may be a form of implicit learning and connectionist models have been developed which instantiate this hypothesis. Research on implicit learning, however, has also produced evidence that explicit chunk knowledge is involved in the performance of these tasks. In this review, we examine how these interacting implicit and explicit processes may change our understanding of language learning and processing.

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

Objects in the world usually have names at different hierarchical levels (e.g., beagle, dog, animal). This research investigates adults' ability to use cross-situational statistics to simultaneously learn object labels at individual and category levels. The results revealed that adults were able to use co-occurrence information to learn hierarchical labels in contexts where the labels for individual objects and labels for categories were presented in completely separated blocks, in interleaved blocks, or mixed in the same trial. Temporal presentation schedules significantly affected the learning of individual object labels, but not the learning of category labels. Learners' subsequent generalization of category labels indicated sensitivity to the structure of statistical input.

Abstract

Messenger ribonucleic acids (RNAs) contain a large number of cis-regulatory RNA elements that function in many types of post-transcriptional regulation. These cis-regulatory elements are often characterized by conserved structures and/or sequences. Although some classes are well known, given the wide range of RNA-interacting proteins in eukaryotes, it is likely that many new classes of cis-regulatory elements are yet to be discovered. An approach to this is to use computational methods that have the advantage of analysing genomic data, particularly comparative data on a large scale. In this study, a set of structural discovery algorithms was applied followed by support vector machine (SVM) classification. We trained a new classification model (CisRNA-SVM) on a set of known structured cis-regulatory elements from 3′-untranslated regions (UTRs) and successfully distinguished these and groups of cis-regulatory elements not been strained on from control genomic and shuffled sequences. The new method outperformed previous methods in classification of cis-regulatory RNA elements. This model was then used to predict new elements from cross-species conserved regions of human 3′-UTRs. Clustering of these elements identified new classes of potential cis-regulatory elements. The model, training and testing sets and novel human predictions are available at: http://mRNA.otago.ac.nz/CisRNA-SVM.

Abstract

We investigated how listeners of two unrelated languages, Korean and Dutch, process phonologically viable and nonviable consonants spoken in Dutch and American English. To Korean listeners, released final stops are nonviable because word-final stops in Korean are never released in words spoken in isolation, but to Dutch listeners, unreleased word-final stops are nonviable because word-final stops in Dutch are generally released in words spoken in isolation. Two phoneme monitoring experiments showed a phonological effect on both Dutch and English stimuli: Korean listeners detected the unreleased stops more rapidly whereas Dutch listeners detected the released stops more rapidly and/or more accurately. The Koreans, however, detected released stops more accurately than unreleased stops, but only in the non-native language they were familiar with (English). The results suggest that, in non-native speech perception, phonological legitimacy in the native language can be more important than the richness of phonetic information, though familiarity with phonetic detail in the non-native language can also improve listening performance.

Abstract

This study investigates young children’s comprehension of spatial terms in two languages that categorize space strikingly differently. English makes a distinction between actions resulting in containment (put in) versus support or surface attachment (put on), while Korean makes a cross-cutting distinction between tight-fit relations (kkita) versus loose-fit or other contact relations (various verbs). In particular, the Korean verb kkita refers to actions resulting in a tight-fit relation regardless of containment or support. In a preferential looking study we assessed the comprehension of in by 20 English learners and kkita by 10 Korean learners, all between 18 and 23 months. The children viewed pairs of scenes while listening to sentences with and without the target word. The target word led children to gaze at different and language-appropriate aspects of the scenes. We conclude that children are sensitive to language-specific spatial categories by 18–23 months.

Abstract

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

Abstract

In the speech production model proposed by [Levelt, W. J. M., Roelofs, A., Meyer, A. S. (1999). A theory of lexical access in speech production. Behavioral and Brain Sciences, 22, pp. 1-75.], syllables play a crucial role at the interface of phonological and phonetic encoding. At this interface, abstract phonological syllables are translated into phonetic syllables. It is assumed that this translation process is mediated by a so-called Mental Syllabary. Rather than constructing the motor programs for each syllable on-line, the mental syllabary is hypothesized to provide pre-compiled gestural scores for the articulators. In order to find evidence for such a repository, we investigated syllable-frequency effects: If the mental syllabary consists of retrievable representations corresponding to syllables, then the retrieval process should be sensitive to frequency differences. In a series of experiments using a symbol-position association learning task, we tested whether highfrequency syllables are retrieved and produced faster compared to low-frequency syllables. We found significant syllable frequency effects with monosyllabic pseudo-words and disyllabic pseudo-words in which the first syllable bore the frequency manipulation; no effect was found when the frequency manipulation was on the second syllable. The implications of these results for the theory of word form encoding at the interface of phonological and phonetic encoding; especially with respect to the access mechanisms to the mental syllabary in the speech production model by (Levelt et al.) are discussed.

Abstract

Clashen proposes two distinct processing routes, for regularly and irregularly inflected forms, respectively, and thus is apparently making a psychological claim. We argue his position, which embodies a strictly linguistic perspective, does not constitute a psychological processing model.

Abstract

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

Abstract

Recent game-theoretic simulation and analytical models have demonstrated that cooperative strategies mediated by indicators of cooperative potential, or “tags,” can invade, spread, and resist invasion by noncooperators across a range of population-structure and cost-benefit scenarios. The plausibility of these models is potentially relevant for human evolutionary accounts insofar as humans possess some phenotypic trait that could serve as a reliable tag. Linguistic markers, such as accent and dialect, have frequently been either cursorily defended or promptly dismissed as satisfying the criteria of a reliable and evolutionarily viable tag. This paper integrates evidence from a range of disciplines to develop and assess the claim that speech accent mediated the evolution of tag-based cooperation in humans. Existing evidence warrants the preliminary conclusion that accent markers meet the demands of an evolutionarily viable tag and potentially afforded a cost-effective solution to the challenges of maintaining viable cooperative relationships in diffuse, regional social networks.

Abstract

Common wisdom has it that Buddhism enhances compassion and self-other integration. We put this assumption to empirical test by comparing practicing Taiwanese Buddhists with well-matched atheists. Buddhists showed more evidence of self-other integration in the social Simon task, which assesses the degree to which people co-represent the actions of a coactor. This suggests that self-other integration and task co-representation vary as a function of religious practice.

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

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

Abstract

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

Abstract

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

Abstract

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

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

Abstract

In most of the world, people have regular exposure to multiple accents. Therefore, learning to quickly process accented speech is a prerequisite to successful communication. In this paper, we examine work on the perception of accented speech across the lifespan, from early infancy to late adulthood. Unfamiliar accents initially impair linguistic processing by infants, children, younger adults, and older adults, but listeners of all ages come to adapt to accented speech. Emergent research also goes beyond these perceptual abilities, by assessing links with production and the relative contributions of linguistic knowledge and general cognitive skills. We conclude by underlining points of convergence across ages, and the gaps left to face in future work.

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

To meet their exhibition, conservation, education, and scientific goals, members of the American Zoo and Aquarium Association (AZA) collaborate to manage their living collections as single species populations. These cooperative population management programs, Species Survival Planss (SSP) and Population Management Plans (PMP), issue specimen-by-specimen recommendations aimed at perpetuating captive populations by maintaining genetic diversity and demographic stability. Species Survival Plans and PMPs differ in that SSP participants agree to complete recommendations, whereas PMP participants need only take recommendations under advisement. We evaluated the effect of program type and the number of participating institutions on the success of actions recommended by the Population Management Center (PMC): transfers of specimens between institutions, breeding, and target number of offspring. We analyzed AZA studbook databases for the occurrence of recommended or unrecommended transfers and births during the 1-year period after the distribution of standard AZA Breeding-and-Transfer Plans. We had three major findings: 1) on average, both SSPs and PMPs fell about 25% short of their target; however, as the number of participating institutions increased so too did the likelihood that programs met or exceeded their target; 2) SSPs exhibited significantly greater transfer success than PMPs, although transfer success for both program types was below 50%; and 3) SSPs exhibited significantly greater breeding success than PMPs, although breeding success for both program types was below 20%. Together, these results indicate that the science and sophistication behind genetic and demographic management of captive populations may be compromised by the challenges of implementation.

Abstract

Researchers have struggled to obtain a clear account of the evolution of prosocial behaviour despite a great deal of recent effort. The aim of this review is to take a brief step back from addressing the question of evolutionary origins of prosocial behaviour in order to identify contextual factors that are contributing to variation in the expression of prosocial behaviour and hindering progress towards identifying phylogenetic patterns. Most available data come from the Primate Order, and the choice of contextual factors to consider was informed by theory and practice, including the nature of the relationship between the potential donor and recipient, the communicative behaviour of the recipients, and features of the prosocial task including whether rewards are visible and whether the prosocial choice creates an inequity between actors. Conclusions are drawn about the facilitating or inhibiting impact of each of these factors on the expression of prosocial behaviour, and areas for future research are highlighted. Acknowledging the impact of these contextual features on the expression of prosocial behaviours should stimulate new research into the proximate mechanisms that drive these effects, yield experimental designs that better control for potential influences on prosocial expression, and ultimately allow progress towards reconstructing the evolutionary origins of prosocial behaviour.

Abstract

The social factors that influence cooperation have remained largely uninvestigated but have the potential to explain much of the variation in cooperative behavior observed in the natural world. We show here that certain dimensions of the social environment, namely the size of the social group, the degree of social tolerance expressed, the structure of the dominance hierarchy, and the patterns of dispersal, may influence the emergence and stability of cooperation in predictable ways. Furthermore, the social environment experienced by a species over evolutionary time will have shaped their cognition to provide certain strengths and strategies that are beneficial in their species‟ social world. These cognitive adaptations will in turn impact the likelihood of cooperating in a given social environment. Experiments with one primate species, the cottontop tamarin, illustrate how social dynamics may influence emergence and stability of cooperative behavior in this species. We then take a more general viewpoint and argue that the hypotheses presented here require further experimental work and the addition of quantitative modeling to obtain a better understanding of how social dynamics influence the emergence and stability of cooperative behavior in complex systems. We conclude by pointing out subsequent specific directions for models and experiments that will allow relevant advances in the understanding of the emergence of cooperation.

Abstract

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

Abstract

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

Word-initial CVC syllables are detected faster in words beginning consonant-vowel-consonant-vowel (CVCV-) than in words beginning consonant-vowel-consonant-consonant (CVCC-). This effect was reported independently by M. Taft and G. Hambly (1985, Journal of Memory and Language, 24, 320–335) and by A. Cutler, J. Mehler, D. Norris, and J. Segui (1986, Journal of Memory and Language, 25, 385–400). Taft and Hambly explained the effect in terms of lexical factors. This explanation cannot account for Cutler et al.'s results, in which the effect also appeared with nonwords and foreign words. Cutler et al. suggested that CVCV-sequences might simply be easier to perceive than CVCC-sequences. The present study confirms this suggestion, and explains it as a reflection of listener expectations constructed on the basis of distributional characteristics of the language.

Abstract

To examine whether lexically stored knowledge about spelling influences phoneme evaluation, we conducted three experiments with a low-level phonetic judgement task: phoneme goodness rating. In each experiment, listeners heard phonetic tokens varying along a continuum centred on /s/, occurring finally in isolated word or nonword tokens. An effect of spelling appeared in Experiment 1: Native English speakers’ goodness ratings for the best /s/ tokens were significantly higher in words spelled with S (e.g., bless) than in words spelled with C (e.g., voice). No such difference appeared when nonnative speakers rated the same materials in Experiment 2, indicating that the difference could not be due to acoustic characteristics of the S- versus C-words. In Experiment 3, nonwords with lexical neighbours consistently spelled with S (e.g., pless) versus with C (e.g., floice) failed to elicit orthographic neighbourhood effects; no significant difference appeared in native English speakers’ ratings for the S-consistent versus the C-consistent sets. Obligatory influence of lexical knowledge on phonemic processing would have predicted such neighbourhood effects; the findings are thus better accommodated by models in which phonemic decisions draw strategically upon lexical information.

Abstract

The mapping of phonetic information to lexical representations in second-language (L2) listening was examined using an eyetracking paradigm. Japanese listeners followed instructions in English to click on pictures in a display. When instructed to click on a picture of a rocket, they experienced interference when a picture of a locker was present, that is, they tended to look at the locker instead. However, when instructed to click on the locker, they were unlikely to look at the rocket. This asymmetry is consistent with a similar asymmetry previously observed in Dutch listeners’ mapping of English vowel contrasts to lexical representations. The results suggest that L2 listeners may maintain a distinction between two phonetic categories of the L2 in their lexical representations, even though their phonetic processing is incapable of delivering the perceptual discrimination required for correct mapping to the lexical distinction. At the phonetic processing level, one of the L2 categories is dominant; the present results suggest that dominance is determined by acoustic–phonetic proximity to the nearest L1 category. At the lexical processing level, representations containing this dominant category are more likely than representations containing the non-dominant category to be correctly contacted by the phonetic input.

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

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

Abstract

The way we listen to spoken language is tailored to the specific benefit of native-language speech input. Listening to speech in non-native languages can be significantly hindered by this native bias. Is it possible to determine the degree to which a listener is listening in a native-like manner? Promising indications of how this question may be tackled are provided by new research findings concerning the great flexibility that characterises listening to the L1, in online adjustment of phonetic category boundaries for adaptation across talkers, and in modulation of lexical dynamics for adjustment across listening conditions. This flexibility pays off in many dimensions, including listening in noise, adaptation across dialects, and identification of voices. These findings further illuminate the robustness and flexibility of native listening, and potentially point to ways in which we might begin to assess degrees of ‘native-likeness’ in this skill.

Abstract

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

Abstract

Studies of spoken-word recognition have revealed that competition from embedded words differs in strength as a function of where in the carrier word the embedded word is found and have further shown embedding patterns to be skewed such that embeddings in initial position in carriers outnumber embeddings in final position. Lexico-statistical analyses show that this skew is highly attenuated in Japanese, a noninflectional language. Comparison of the extent of the asymmetry in the three Germanic languages English, Dutch, and German allows the source to be traced to a combination of suffixal morphology and vowel reduction in unstressed syllables.

Abstract

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

Abstract

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

Abstract

Language production and comprehension are intimately interrelated; and models of production and comprehension should, we argue, be constrained by common architectural guidelines. Levelt et al.'s target article adopts as guiding principle Ockham's razor: the best model of production is the simplest one. We recommend adoption of the same principle in comprehension, with consequent simplification of some well-known types of models.

Abstract

Three experiments addressed the question of whether pitch-accent information may be exploited in the process of recognizing spoken words in Tokyo Japanese. In a two-choice classification task, listeners judged from which of two words, differing in accentual structure, isolated syllables had been extracted ~e.g., ka from baka HL or gaka LH!; most judgments were correct, and listeners’ decisions were correlated with the fundamental frequency characteristics of the syllables. In a gating experiment, listeners heard initial fragments of words and guessed what the words were; their guesses overwhelmingly had the same initial accent structure as the gated word even when only the beginning CV of the stimulus ~e.g., na- from nagasa HLL or nagashi LHH! was presented. In addition, listeners were more confident in guesses with the same initial accent structure as the stimulus than in guesses with different accent. In a lexical decision experiment, responses to spoken words ~e.g., ame HL! were speeded by previous presentation of the same word ~e.g., ame HL! but not by previous presentation of a word differing only in accent ~e.g., ame LH!. Together these findings provide strong evidence that accentual information constrains the activation and selection of candidates for spoken-word recognition.

Abstract

Studies of human speech processing have provided evidence for a segmentation strategy in the perception of continuous speech, whereby a word boundary is postulated, and a lexical access procedure initiated, at each metrically strong syllable. The likely success of this strategy was here estimated against the characteristics of the English vocabulary. Two computerized dictionaries were found to list approximately three times as many words beginning with strong syllables (i.e. syllables containing a full vowel) as beginning with weak syllables (i.e. syllables containing a reduced vowel). Consideration of frequency of lexical word occurrence reveals that words beginning with strong syllables occur on average more often than words beginning with weak syllables. Together, these findings motivate an estimate for everyday speech recognition that approximately 85% of lexical words (i.e. excluding function words) will begin with strong syllables. This estimate was tested against a corpus of 190 000 words of spontaneous British English conversion. In this corpus, 90% of lexical words were found to begin with strong syllables. This suggests that a strategy of postulating word boundaries at the onset of strong syllables would have a high success rate in that few actual lexical word onsets would be missed.

Abstract

We show that Atkinson’s (Reports, 15 April 2011, p. 346) intriguing proposal—that global
linguistic diversity supports a single language origin in Africa—is an artifact of using suboptimal
data, biased methodology, and unjustified assumptions. We criticize his approach using more
suitable data, and we additionally provide new results suggesting a more complex scenario for the
emergence of global linguistic diversity.

Abstract

Evidence from certain geographical areas links lymphomas of the ocular adnexa marginal zone B-cell lymphomas (OAMZL) with Chlamydophila psittaci (Cp) infection, suggesting that lymphoma development is dependent upon chronic stimulation by persistent infections. Notwithstanding that, the actual immunopathogenetical mechanisms have not yet been elucidated. As in other B-cell lymphomas, insight into this issue, especially with regard to potential selecting ligands, could be provided by analysis of the immunoglobulin (IG) receptors of the malignant clones. To this end, we studied the molecular features of IGs in 44 patients with OAMZL (40% Cp-positive), identifying features suggestive of a pathogenic mechanism of autoreactivity. Herein, we show that lymphoma cells express a distinctive IG repertoire, with electropositive antigen (Ag)-binding sites, reminiscent of autoantibodies (auto-Abs) recognizing DNA. Additionally, five (11%) cases of OAMZL expressed IGs homologous with autoreactive Abs or IGs of patients with chronic lymphocytic leukemia, a disease known for the expression of autoreactive IGs by neoplastic cells. In contrast, no similarity with known anti-Chlamydophila Abs was found. Taken together, these results strongly indicate that OAMZL may originate from B cells selected for their capability to bind Ags and, in particular, auto-Ags. In OAMZL associated with Cp infection, the pathogen likely acts indirectly on the malignant B cells, promoting the development of an inflammatory milieu, where auto-Ags could be exposed and presented, driving proliferation and expansion of self-reactive B cells.

Abstract

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

Abstract

The morphosyntactic paradigm of an inflected word can influence isolated word recognition, but its role in multiple-word phrasal integration is less clear. We examined the electrophysiological response to adjectives in short German prepositional phrases to evaluate whether strong and weak forms of the adjective show a differential response, and whether paradigm variables are related to this response. Twenty native German speakers classified serially presented phrases as grammatically correct or not while the electroencephalogram (EEG) was recorded. A functional mixed effects model of the response to grammatically correct trials revealed a differential response to strong and weak forms of the adjectives. This response difference depended on whether the preceding preposition imposed accusative or dative case. The lexically conditioned information content of the adjectives modulated a later interval of the response. The results indicate that grammatical context modulates the response to morphosyntactic information content, and lends support to the role of paradigm structure in integrative phrasal processing.

Abstract

Language is the best example of a cultural evolutionary system, able to retain a phylogenetic signal over many thousands of years. The temporal stability (conservatism) of basic vocabulary is relatively well understood, but the stability of the structural properties of language (phonology, morphology, syntax) is still unclear. Here we report an extensive Bayesian phylogenetic investigation of the structural stability of numerous features across many language families and we introduce a novel method for analyzing the relationships between the “stability profiles” of language families. We found that there is a strong universal component across language families, suggesting the existence of universal linguistic, cognitive and genetic constraints. Against this background, however, each language family has a distinct stability profile, and these profiles cluster by geographic area and likely deep genealogical relationships. These stability profiles reveal, for example, the ancient historical relationships between the Siberian and American language families, presumed to be separated by at least 12,000 years. Thus, such higher-level properties of language seen as an evolutionary system might allow the investigation of ancient connections between languages and shed light on the peopling of the world.

Abstract

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

Abstract

Commentary on Cohen, E. (2012). The evolution of tag-based cooperation in humans: The case for accent. Current Anthropology, 53, 588-616. doi:10.1086/667654.

Abstract

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

Abstract

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

In this article we investigate the relation between discourse markers and turn-transition strategies in face-to-face conversations and Instant Messaging (IM), that is, unplanned, real-time, text-based, computer-mediated communication. By means of a quantitative corpus study of utterances containing a discourse marker, we show that utterance-final discourse markers are used more often in IM than in face-to-face conversations. Moreover, utterance-final discourse markers are shown to occur more often at points of turn-transition compared with points of turn-maintenance in both types of conversation. From our results we conclude that the discourse markers in utterance-final position can function as a turn-transition mechanism, signaling that the turn is over and the floor is open to the hearer. We argue that this linguistic turn-taking strategy is essentially similar in face-to-face and IM communication. Our results add to the evidence that communication in IM is more like speech than like writing.

Abstract

Speakers choose a particular expression based on many factors, including availability of the referent in the perceptual context. We examined whether, when expressing referents, monolingual English- and Turkish-speaking children: (1) are sensitive to perceptual context, (2) express this sensitivity in language-specific ways, and (3) use co-speech gestures to specify referents that are underspecified. We also explored the mechanisms underlying children's sensitivity to perceptual context. Children described short vignettes to an experimenter under two conditions: The characters in the vignettes were present in the perceptual context (perceptual context); the characters were absent (no perceptual context). Children routinely used nouns in the no perceptual context condition, but shifted to pronouns (English-speaking children) or omitted arguments (Turkish-speaking children) in the perceptual context condition. Turkish-speaking children used underspecified referents more frequently than English-speaking children in the perceptual context condition; however, they compensated for the difference by using gesture to specify the forms. Gesture thus gives children learning structurally different languages a way to achieve comparable levels of specification while at the same time adhering to the referential expressions dictated by their 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

Recurrent de novo variants in the TBR1 transcription factor are implicated in the etiology of sporadic autism spectrum disorders (ASD). Disruptions include missense variants located in the T-box DNA-binding domain and previous work has demonstrated that they disrupt TBR1 protein function. Recent screens of thousands of simplex families with sporadic ASD cases uncovered additional T-box variants in TBR1 but their etiological relevance is unclear. We performed detailed functional analyses of de novo missense TBR1 variants found in the T-box of ASD cases, assessing many aspects of protein function, including subcellular localization, transcriptional activity and protein-interactions. Only two of the three tested variants severely disrupted TBR1 protein function, despite in silico predictions that all would be deleterious. Furthermore, we characterized a putative interaction with BCL11A, a transcription factor that was recently implicated in a neurodevelopmental syndrome involving developmental delay and language deficits. Our findings enhance understanding of molecular functions of TBR1, as well as highlighting the importance of functional testing of variants that emerge from next-generation sequencing, to decipher their contributions to neurodevelopmental disorders like ASD.

Abstract

Abnormal prosody is a striking feature of the speech of those with Autism Spectrum Disorder (ASD), but previous reports suggest large variability among those with ASD. Here we show that part of this heterogeneity can be explained by level of language functioning. We recorded semi-spontaneous but controlled conversations in adults with and without Autism Spectrum Disorder and measured features related to pitch and duration to determine (1) general use of prosodic features, (2) prosodic use in relation to marking information structure, specifically, the emphasis of new information in a sentence (focus) as opposed to information already given in the conversational context (topic), and (3) the relation between prosodic use and level of language function. We found that, compared to typical adults, those with ASD with high language functioning generally used a larger pitch range than controls but did not mark information structure, whereas those with moderate language functioning generally used a smaller pitch range than controls but marked information structure appropriately to a large extent. Both impaired general prosodic use and impaired marking of information structure would be expected to seriously impact social communication and thereby lead to increased difficulty in personal domains, such as making and keeping friendships, and in professional domains, such as competing for employment opportunities.

Abstract

Desmet, Brysbaert, and De Baecke (2002a) showed that the production of relative clauses following two potential attachment hosts (e.g., ‘Someone shot the servant of the actress who was on the balcony’) was influenced by the animacy of the first host. These results were important because they refuted evidence from Dutch against experience-based accounts of syntactic ambiguity resolution, such as the tuning hypothesis. However, Desmet et al. did not provide direct evidence in favour of tuning, because their study focused on production and did not include reading experiments. In the present paper this line of research was extended. A corpus analysis and an eye-tracking experiment revealed that when taking into account lexical properties of the NP host sites (i.e., animacy and concreteness) the frequency pattern and the on-line comprehension of the relative clause attachment ambiguity do correspond. The implications for exposure-based accounts of sentence processing are discussed.

Abstract

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

Abstract

Understanding the genetic factors underlying neurodevelopmental and neuropsychiatric disorders is a major challenge given their prevalence and potential severity for quality of life. While large-scale genomic screens have made major advances in this area, for many disorders the genetic underpinnings are complex and poorly understood. To date the field has focused predominantly on protein coding variation, but given the importance of tightly controlled gene expression for normal brain development and disorder, variation that affects non-coding regulatory regions of the genome is likely to play an important role in these phenotypes. Herein we show the importance of 3 prime untranslated region (3'UTR) non-coding regulatory variants across neurodevelopmental and neuropsychiatric disorders. We devised a pipeline for identifying and functionally validating putatively pathogenic variants from next generation sequencing (NGS) data. We applied this pipeline to a cohort of children with severe specific language impairment (SLI) and identified a functional, SLI-associated variant affecting gene regulation in cells and post-mortem human brain. This variant and the affected gene (ARHGEF39) represent new putative risk factors for SLI. Furthermore, we identified 3′UTR regulatory variants across autism, schizophrenia and bipolar disorder NGS cohorts demonstrating their impact on neurodevelopmental and neuropsychiatric disorders. Our findings show the importance of investigating non-coding regulatory variants when determining risk factors contributing to neurodevelopmental and neuropsychiatric disorders. In the future, integration of such regulatory variation with protein coding changes will be essential for uncovering the genetic causes of complex neurological disorders and the fundamental mechanisms underlying health and disease

Abstract

Developmental dyslexia, a severe and persistent reading and spelling impairment, is characterized by difficulties in processing speech sounds (i.e., phonemes). Here, we test the hypothesis that these phonological difficulties are associated with a dysfunction of the auditory sensory thalamus, the medial geniculate body (MGB). By using functional MRI, we found that, in dyslexic adults, the MGB responded abnormally when the task required attending to phonemes compared with other speech features. No other structure in the auditory pathway showed distinct functional neural patterns between the two tasks for dyslexic and control participants. Furthermore, MGB activity correlated with dyslexia diagnostic scores, indicating that the task modulation of the MGB is critical for performance in dyslexics. These results suggest that deficits in dyslexia are associated with a failure of the neural mechanism that dynamically tunes MGB according to predictions from cortical areas to optimize speech processing. This view on task-related MGB dysfunction in dyslexics has the potential to reconcile influential theories of dyslexia within a predictive coding framework of brain function.

Abstract

The extent to which the phonetic system of a second language is mastered varies across individuals. The present study evaluates the pattern of individual differences in late bilinguals across different phonological processes. Fifty-five late Dutch-English bilinguals were tested on their ability to perceive a difficult L2 speech contrast (the English /æ/-/ε/ contrast) in three different tasks: A categorization task, a word identification task and a lexical decision task. As a group, L2 listeners were less accurate than native listeners. However, at the individual level, almost half of the L2 listeners scored within the native range in the categorization task whereas a small percentage scored within the native range in the identification and lexical decision tasks. These results show that L2 listeners' performance crucially depends on the nature of the task, with higher L2 listener accuracy on an acoustic-phonetic analysis task than on tasks involving lexical processes. These findings parallel previous results for early bilinguals, where the pattern of performance was consistent with the processing hierarchy proposed by different models of speech perception. The results indicate that the analysis of patterns of non-native performance can provide important insights concerning the architecture of the speech perception system and the issue of language learnability.