Publications

Abstract

Acoustic duration and degree of vowel reduction are known to correlate with a word’s frequency of occurrence. The present study broadens the research on the role of frequency in speech production to voice assimilation. The test case was regressive voice assimilation in Dutch. Clusters from a corpus of read speech were more often perceived as unassimilated in lower-frequency words and as either completely voiced regressive assimilation or, unexpectedly, as completely voiceless progressive assimilation in higher-frequency words. Frequency did not predict the voice classifications over and above important acoustic cues to voicing, suggesting that the frequency effects on the classifications were carried exclusively by the acoustic signal. The duration of the cluster and the period of glottal vibration during the cluster decreased while the duration of the release noises increased with frequency. This indicates that speakers reduce articulatory effort for higher-frequency words, with some acoustic cues signaling more voicing and others less voicing. A higher frequency leads not only to acoustic reduction but also to more assimilation.

Abstract

This study examines the effect of L2 and L3 proficiency on L3 word learning. Native speakers of Spanish with different proficiencies in L2 English and L3 Dutch and a control group of Dutch native speakers participated in a Dutch word learning task involving minimal and non-minimal word pairs. The minimal word pairs were divided into ‘minimal-easy’ and ‘minimal-difficult’ pairs on the basis of whether or not they are known to pose perceptual problems for L1 Spanish learners. Spanish speakers’ proficiency in Dutch and English was independently established by their scores on general language comprehension tests. All participants were trained and subsequently tested on the mapping between pseudo-words and non-objects. The results revealed that, first, both native and non-native speakers produced more errors and longer reaction times for minimal than for non-minimal word pairs, and secondly, Spanish learners had more errors and longer reaction times for minimal-difficult than for minimal-easy pairs. The latter finding suggests that there is a strong continuity between sound perception and L3 word recognition. With respect to proficiency, only the learner’s proficiency in their L2, namely English, predicted their accuracy on L3 minimal pairs. This shows that learning an L2 with a larger vowel inventory than the L1 is also beneficial for word learning in an L3 with a similarly large vowel inventory.

Abstract

FOXP transcription factors play important roles in neurodevelopment, but little is known about how their transcriptional activity is regulated. FOXP proteins cooperatively regulate gene expression by forming homo- and hetero-dimers with each other. Physical associations with other transcription factors might also modulate the functions of FOXP proteins. However, few FOXP-interacting transcription factors have been identified so far. Therefore, we sought to discover additional transcription factors that interact with the brain-expressed FOXP proteins, FOXP1, FOXP2 and FOXP4, through affinity-purifications of protein complexes followed by mass spectrometry. We identified seven novel FOXP-interacting transcription factors (NR2F1, NR2F2, SATB1, SATB2, SOX5, YY1 and ZMYM2), five of which have well-established roles in cortical development. Accordingly, we found that these transcription factors are co-expressed with FoxP2 in the deep layers of the cerebral cortex and also in the Purkinje cells of the cerebellum, suggesting that they may cooperate with the FoxPs to regulate neural gene expression in vivo. Moreover, we demonstrated that etiological mutations of FOXP1 and FOXP2, known to cause neurodevelopmental disorders, severely disrupted the interactions with FOXP-interacting transcription factors. Additionally, we pinpointed specific regions within FOXP2 sequence involved in mediating these interactions. Thus, by expanding the FOXP interactome we have uncovered part of a broader neural transcription factor network involved in cortical development, providing novel molecular insights into the transcriptional architecture underlying brain development and neurodevelopmental disorders.

Abstract

Genetic variation affecting absorption, distribution or excretion of essential trace elements may lead to health effects related to sub-clinical deficiency. We have tested for allelic effects of single-nucleotide polymorphisms (SNPs) on blood copper, selenium and zinc in a genome-wide association study using two adult cohorts from Australia and the UK. Participants were recruited in Australia from twins and their families and in the UK from pregnant women. We measured erythrocyte Cu, Se and Zn (Australian samples) or whole blood Se (UK samples) using inductively coupled plasma mass spectrometry. Genotyping was performed with Illumina chips and > 2.5 m SNPs were imputed from HapMap data. Genome-wide significant associations were found for each element. For Cu, there were two loci on chromosome 1 (most significant SNPs rs1175550, P = 5.03 × 10(-10), and rs2769264, P = 2.63 × 10(-20)); for Se, a locus on chromosome 5 was significant in both cohorts (combined P = 9.40 × 10(-28) at rs921943); and for Zn three loci on chromosomes 8, 15 and X showed significant results (rs1532423, P = 6.40 × 10(-12); rs2120019, P = 1.55 × 10(-18); and rs4826508, P = 1.40 × 10(-12), respectively). The Se locus covers three genes involved in metabolism of sulphur-containing amino acids and potentially of the analogous Se compounds; the chromosome 8 locus for Zn contains multiple genes for the Zn-containing enzyme carbonic anhydrase. Where potentially relevant genes were identified, they relate to metabolism of the element (Se) or to the presence at high concentration of a metal-containing protein (Cu).

Abstract

Author SummaryThe standard approach in genome-wide association studies is to analyse the relationship between genetic variants and disease one marker at a time. Significant associations between markers and disease are then used as evidence to implicate biological intermediates and pathways likely to be involved in disease aetiology. However, single genetic variants typically only explain small amounts of disease risk. Our idea is to construct allelic scores that explain greater proportions of the variance in biological intermediates than single markers, and then use these scores to data mine genome-wide association studies. We show how allelic scores derived from known variants as well as allelic scores derived from hundreds of thousands of genetic markers across the genome explain significant portions of the variance in body mass index, levels of C-reactive protein, and LDLc cholesterol, and many of these scores show expected correlations with disease. Power calculations confirm the feasibility of scaling our strategy to the analysis of tens of thousands of molecular phenotypes in large genome-wide meta-analyses. Our method represents a simple way in which tens of thousands of molecular phenotypes could be screened for potential causal relationships with disease.

Abstract

Human language offers rich ways to track, compare, and engage the attentional and epistemic states of interlocutors. While this task is central to everyday communication, our knowledge of the cross-linguistic grammatical means that target such intersubjective coordination has remained basic. In two serialised papers, we introduce the term ‘engagement’ to refer to grammaticalised means for encoding the relative mental directedness of speaker and addressee towards an entity or state of affairs, and describe examples of engagement systems from around the world. Engagement systems express the speaker’s assumptions about the degree to which their attention or knowledge is shared (or not shared) by the addressee. Engagement categories can operate at the level of entities in the here-and-now (deixis), in the unfolding discourse (definiteness vs indefiniteness), entire event-depicting propositions (through markers with clausal scope), and even metapropositions (potentially scoping over evidential values). In this first paper, we introduce engagement and situate it with respect to existing work on intersubjectivity in language. We then explore the key role of deixis in coordinating attention and expressing engagement, moving through increasingly intercognitive deictic systems from those that focus on the the location of the speaker, to those that encode the attentional state of the addressee.

Abstract

Engagement systems encode the relative accessibility of an entity or state of affairs to the speaker and addressee, and are thus underpinned by our social cognitive capacities. In our first foray into engagement (Part 1), we focused on specialised semantic contrasts as found in entity-level deictic systems, tailored to the primal scenario for establishing joint attention. This second paper broadens out to an exploration of engagement at the level of events and even metapropositions, and comments on how such systems may evolve. The languages Andoke and Kogi demonstrate what a canonical system of engagement with clausal scope looks like, symmetrically assigning ‘knowing’ and ‘unknowing’ values to speaker and addressee. Engagement is also found cross-cutting other epistemic categories such as evidentiality, for example where a complex assessment of relative speaker and addressee awareness concerns the source of information rather than the proposition itself. Data from the language Abui reveal that one way in which engagement systems can develop is by upscoping demonstratives, which normally denote entities, to apply at the level of events. We conclude by stressing the need for studies that focus on what difference it makes, in terms of communicative behaviour, for intersubjective coordination to be managed by engagement systems as opposed to other, non-grammaticalised means.

Abstract

In contrast to the large amount of dual-task research investigating the coordination of a linguistic and a nonlinguistic
task, little research has investigated how two linguistic tasks are coordinated. However, such research
would greatly contribute to our understanding of how interlocutors combine speech planning and listening in
conversation. In three dual-task experiments we studied how participants coordinated the processing of an
auditory stimulus (S1), which was either a syllable or a tone, with selecting a name for a picture (S2). Two SOAs,
of 0 ms and 1000 ms, were used. To vary the time required for lexical selection and to determine when lexical
selection took place, the pictures were presented with categorically related or unrelated distractor words. In
Experiment 1 participants responded overtly to both stimuli. In Experiments 2 and 3, S1 was not responded to
overtly, but determined how to respond to S2, by naming the picture or reading the distractor aloud. Experiment
1 yielded additive effects of SOA and distractor type on the picture naming latencies. The presence of semantic
interference at both SOAs indicated that lexical selection occurred after response selection for S1. With respect to
the coordination of S1 and S2 processing, Experiments 2 and 3 yielded inconclusive results. In all experiments,
syllables interfered more with picture naming than tones. This is likely because the syllables activated phonological
representations also implicated in picture naming. The theoretical and methodological implications of the
findings are discussed.

Abstract

Twin and family studies indicate that the timing of primary tooth eruption is highly heritable, with estimates typically exceeding 80%. To identify variants involved in primary tooth eruption, we performed a population-based genome-wide association study of 'age at first tooth' and 'number of teeth' using 5998 and 6609 individuals, respectively, from the Avon Longitudinal Study of Parents and Children (ALSPAC) and 5403 individuals from the 1966 Northern Finland Birth Cohort (NFBC1966). We tested 2 446 724 SNPs imputed in both studies. Analyses were controlled for the effect of gestational age, sex and age of measurement. Results from the two studies were combined using fixed effects inverse variance meta-analysis. We identified a total of 15 independent loci, with 10 loci reaching genome-wide significance (P < 5 × 10(-8)) for 'age at first tooth' and 11 loci for 'number of teeth'. Together, these associations explain 6.06% of the variation in 'age of first tooth' and 4.76% of the variation in 'number of teeth'. The identified loci included eight previously unidentified loci, some containing genes known to play a role in tooth and other developmental pathways, including an SNP in the protein-coding region of BMP4 (rs17563, P = 9.080 × 10(-17)). Three of these loci, containing the genes HMGA2, AJUBA and ADK, also showed evidence of association with craniofacial distances, particularly those indexing facial width. Our results suggest that the genome-wide association approach is a powerful strategy for detecting variants involved in tooth eruption, and potentially craniofacial growth and more generally organ development.

Abstract

Strong and weak syllables in English can be distinguished on the basis of vowel quality, of stress, or of both factors. Critical for deciding between these factors are syllables containing unstressed unreduced vowels, such as the first syllable of automata. In this study 12 speakers produced sentences containing matched sets of words with initial vowels ranging from stressed to reduced, at normal and at fast speech rates. Measurements of the duration, intensity, F0, and spectral characteristics of the word-initial vowels showed that unstressed unreduced vowels differed significantly from both stressed and reduced vowels. This result held true across speaker sex and dialect. The vowels produced by one speaker were then cross-spliced across the words within each set, and the resulting words' acceptability was rated by listeners. In general, cross-spliced words were only rated significantly less acceptable than unspliced words when reduced vowels interchanged with any other vowel. Correlations between rated acceptability and acoustic characteristics of the cross-spliced words demonstrated that listeners were attending to duration, intensity, and spectral characteristics. Together these results suggest that unstressed unreduced vowels in English pattern differently from both stressed and reduced vowels, so that no acoustic support for a binary categorical distinction exists; nevertheless, listeners make such a distinction, grouping unstressed unreduced vowels by preference with stressed vowels

Abstract

Objectives: Our goal was to assess MR image uniformity by investigating aspects influencing said uniformity via a method laid out by the National Electrical Manufacturers Association (NEMA).
Methods: Six metallic materials embedded in a glass phantom were scanned (i.e. Au, Ag, Al, Au-Ag-Pd alloy, Ti and Co-Cr alloy) as well as a reference image. Sequences included spin echo (SE) and gradient echo (GRE) scanned in three planes (i.e. axial, coronal, and sagittal). Moreover, three surface coil types (i.e. head and neck, Brain, and temporomandibular joint coils) and two image correction methods (i.e. surface coil intensity correction or SCIC, phased array uniformity enhancement or PURE) were employed to evaluate their effectiveness on image uniformity. Image uniformity was assessed using the National Electrical Manufacturers Association peak-deviation non-uniformity method.
Results: Results showed that temporomandibular joint coils elicited the least uniform image and brain coils outperformed head and neck coils when metallic materials were present. Additionally, when metallic materials were present, spin echo outperformed gradient echo especially for Co-Cr (particularly in the axial plane). Furthermore, both SCIC and PURE improved image uniformity compared to uncorrected images, and SCIC slightly surpassed PURE when metallic metals were present. Lastly, Co-Cr elicited the least uniform image while other metallic materials generally showed similar patterns (i.e. no significant deviation from images without metallic metals).
Conclusions: Overall, a quantitative understanding of the factors influencing MR image uniformity (e.g. coil type, imaging method, metal susceptibility, and post-hoc correction method) is advantageous to optimize image quality, assists clinical interpretation, and may result in improved medical and dental care.

Abstract

This article presents the ventriloquist paradigm, an innovative method for studying speech processing in dialogue whereby participants interact face-to-face with a confederate who, unbeknownst to them, communicates by playing pre-recorded speech. Results show that the paradigm convinces more participants that the speech is live than a setup without the face-to-face element, and it elicits more interactive conversation than a setup in which participants believe their partner is a computer. By reconciling the ecological validity of a conversational context with full experimental control over phonetic exposure, the paradigm offers a wealth of new possibilities for studying speech processing in interaction.

Abstract

This article focuses on “perceptual syntax”, the faculty to process patterns in sensory stimuli. Specifically, this study addresses the ability to perceptually connect elements that are: (1) of the same sensory modality; (2) spatially and temporally non-adjacent; or (3) within multiple sensorial domains. The underlying hypothesis is that in each animal species, this core cognitive faculty enables the perception of the environment-world (Umwelt) and consequently the possibility to survive within it. Importantly, it is suggested that in doing so, perceptual syntax determines (and guides) each species’ ontological access to the world. In support of this hypothesis, research on perceptual syntax in nonverbal individuals (preverbal infants and nonhuman animals) and humans is reviewed. This comparative approach results in theoretical remarks on human cognition and ontology, pointing to the conclusion that the ability to map cross-modal connections through verbal language is what makes humans’ form of life species-typical.

Abstract

The aim of this paper is to help refine the definition of humans as “linguistic animals” in light of a comparative approach on nonhuman animals’ cognitive systems. As Uexküll & Kriszat (1934/1992) have theorized, the epistemic access to each species-specific environment (Umwelt) is driven by different biocognitive processes. Within this conceptual framework, I identify the salient cognitive process that distinguishes each species typical perception of the world as the faculty of language meant in the following operational definition: the ability to connect different elements according to structural rules. In order to draw some conclusions about humans’ specific faculty of language, I review different empirical studies on nonhuman animals’ ability to recognize formal patterns of tokens. I suggest that what differentiates human language from other animals’ cognitive systems is the ability to categorize the units of a pattern, going beyond its perceptual aspects. In fact, humans are the only species known to be able to combine semantic units within a network of combinatorial logical relationships (Deacon 1997) that can be linked to the state of affairs in the external world (Wittgenstein 1922). I assume that this ability is the core cognitive process underlying a) the capacity to speak (or to reason) in verbal propositions and b) the general human faculty of language expressed, for instance, in the ability to draw visual conceptual maps or to compute mathematical expressions. In light of these considerations, I conclude providing some research questions that could lead to a more detailed comparative exploration of the faculty of language.

Abstract

Family and twin studies of developmental dyslexia have consistently shown that there is a significant heritable component for this disorder. However, any genetic basis for the trait is likely to be complex, involving reduced penetrance, phenocopy, heterogeneity and oligogenic inheritance. This complexity results in reduced power for traditional parametric linkage analysis, where specification of the correct genetic model is important. One strategy is to focus on large multigenerational pedigrees with severe phenotypes and/or apparent simple Mendelian inheritance, as has been successfully demonstrated for speech and language impairment. This approach is limited by the scarcity of such families. An alternative which has recently become feasible due to the development of high-throughput genotyping techniques is the analysis of large numbers of sib-pairs using allele-sharing methodology. This paper outlines our strategy for conducting a systematic genome-wide search for genes involved in dyslexia in a large number of affected sib-pair familites from the UK. We use a series of psychometric tests to obtain different quantitative measures of reading deficit, which should correlate with different components of the dyslexia phenotype, such as phonological awareness and orthographic coding ability. This enable us to use QTL (quantitative trait locus) mapping as a powerful tool for localising genes which may contribute to reading and spelling disability.

Abstract

Attention deficit/hyperactivity disorder (ADHD) is a common heritable disorder with a childhood onset. Molecular genetic studies of ADHD have previously focused on examining the roles of specific candidate genes, primarily those involved in dopaminergic pathways. We have performed the first systematic genomewide linkage scan for loci influencing ADHD in 126 affected sib pairs, using a ∼10-cM grid of microsatellite markers. Allele-sharing linkage methods enabled us to exclude any loci with a λs of ⩾3 from 96% of the genome and those with a λs of ⩾2.5 from 91%, indicating that there is unlikely to be a major gene involved in ADHD susceptibility in our sample. Under a strict diagnostic scheme we could exclude all screened regions of the X chromosome for a locus-specific λs of ⩾2 in brother-brother pairs, demonstrating that the excess of affected males with ADHD is probably not attributable to a major X-linked effect. Qualitative trait maximum LOD score analyses pointed to a number of chromosomal sites that may contain genetic risk factors of moderate effect. None exceeded genomewide significance thresholds, but LOD scores were >1.5 for regions on 5p12, 10q26, 12q23, and 16p13. Quantitative-trait analysis of ADHD symptom counts implicated a region on 12p13 (maximum LOD 2.6) that also yielded a LOD >1 when qualitative methods were used. A survey of regions containing 36 genes that have been proposed as candidates for ADHD indicated that 29 of these genes, including DRD4 and DAT1, could be excluded for a λs of 2. Only three of the candidates—DRD5, 5HTT, and CALCYON—coincided with sites of positive linkage identified by our screen. Two of the regions highlighted in the present study, 2q24 and 16p13, coincided with the top linkage peaks reported by a recent genome-scan study of autistic sib pairs.

Abstract

Recent application of nonparametric-linkage analysis to reading disability has implicated a putative quantitative-trait locus (QTL) on the short arm of chromosome 6. In the present study, we use QTL methods to evaluate linkage to the 6p25-21.3 region in a sample of 181 sib pairs from 82 nuclear families that were selected on the basis of a dyslexic proband. We have assessed linkage directly for several quantitative measures that should correlate with different components of the phenotype, rather than using a single composite measure or employing categorical definitions of subtypes. Our measures include the traditional IQ/reading discrepancy score, as well as tests of word recognition, irregular-word reading, and nonword reading. Pointwise analysis by means of sib-pair trait differences suggests the presence, in 6p21.3, of a QTL influencing multiple components of dyslexia, in particular the reading of irregular words (P=.0016) and nonwords (P=.0024). A complementary statistical approach involving estimation of variance components supports these findings (irregular words, P=.007; nonwords, P=.0004). Multipoint analyses place the QTL within the D6S422-D6S291 interval, with a peak around markers D6S276 and D6S105 consistently identified by approaches based on trait differences (irregular words, P=.00035; nonwords, P=.0035) and variance components (irregular words, P=.007; nonwords, P=.0038). Our findings indicate that the QTL affects both phonological and orthographic skills and is not specific to phoneme awareness, as has been previously suggested. Further studies will be necessary to obtain a more precise localization of this QTL, which may lead to the isolation of one of the genes involved in developmental dyslexia.

Abstract

We have constructed two YAC contigs in the Xp11.23-p11.22 interval of the human X chromosome, a region that was previously poorly characterized. One contig, of at least 1.4 Mb, links the pseudogene OATL1 to the genes GATA1, TFE3, and SYP and also contains loci implicated in Wiskott-Aldrich syndrome and synovial sarcoma. A second contig, mapping proximal to the first, is estimated to be over 2.1 Mb and links the hypervariable locus DXS255 to DXS146, and also contains a chloride channel gene that is responsible for hereditary nephrolithiasis. We have used plasmid rescue, inverse PCR, and Alu-PCR to generate 20 novel markers from this region, 1 of which is polymorphic, and have positioned these relative to one another on the basis of YAC analysis. The order of previously known markers within our contigs, Xpter-OATL1-GATA-TFE3-SYP-DXS255146- Xcen, agrees with genomic pulsed-field maps of the region. In addition, we have constructed a rare-cutter restriction map for a 710-kb region of the DXS255-DXS146 contig and have identified three CPG islands. These contigs and new markers will provide a useful resource for more detailed analysis of Xp11.23-p11.22, a region implicated in several genetic diseases.

Abstract

State-of-the-art DNA sequencing is providing ever more detailed insights into the genomes of humans, extant apes, and even extinct hominins (1–3), offering unprecedented opportunities to uncover the molecular variants that make us human. A common assumption is that the emergence of behaviorally modern humans after 200,000 years ago required—and followed—a specific biological change triggered by one or more genetic mutations. For example, Klein has argued that the dawn of human culture stemmed from a single genetic change that “fostered the uniquely modern ability to adapt to a remarkable range of natural and social circumstance” (4). But are evolutionary changes in our genome a cause or a consequence of cultural innovation (see the figure)?

Abstract

Developmental dyslexia, a specific impairment of reading ability despite adequate intelligence and educational opportunity, is one of the most frequent childhood disorders. Since the first documented cases at the beginning of the last century, it has become increasingly apparent that the reading problems of people with dyslexia form part of a heritable neurobiological syndrome. As for most cognitive and behavioural traits, phenotypic definition is fraught with difficulties and the genetic basis is complex, making the isolation of genetic risk factors a formidable challenge. Against such a background, it is notable that several recent studies have reported the localization of genes that influence dyslexia and other language-related traits. These investigations exploit novel research approaches that are relevant to many areas of human neurogenetics.

Abstract

Dent disease, an X-linked familial renal tubular disorder, is a form of Fanconi syndrome associated with proteinuria, hypercalciuria, nephrocalcinosis, kidney stones, and eventual renal failure. We have previously used positional cloning to identify the 3' part of a novel kidney-specific gene (initially termed hClC-K2, but now referred to as CLCN5), which is deleted in patients from one pedigree segregating Dent disease. Mutations that disrupt this gene have been identified in other patients with this disorder. Here we describe the isolation and characterization of the complete open reading frame of the human CLCN5 gene, which is predicted to encode a protein of 746 amino acids, with significant homology to all known members of the ClC family of voltage-gated chloride channels. CLCN5 belongs to a distinct branch of this family, which also includes the recently identified genes CLCN3 and CLCN4. We have shown that the coding region of CLCN5 is organized into 12 exons, spanning 25-30 kb of genomic DNA, and have determined the sequence of each exon-intron boundary. The elucidation of the coding sequence and exon-intron organization of CLCN5 will both expedite the evaluation of structure/function relationships of these ion channels and facilitate the screening of other patients with renal tubular dysfunction for mutations at this locus.

Abstract

Studies of dyslexia provide vital insights into the cognitive architecture underpinning both disordered and normal reading. It is well established that inherited factors contribute to dyslexia susceptibility, but only very recently has evidence emerged to implicate specific candidate genes. In this article, we provide an accessible overview of four prominent examples--DYX1C1, KIAA0319, DCDC2 and ROBO1--and discuss their relevance for cognition. In each case correlations have been found between genetic variation and reading impairments, but precise risk variants remain elusive. Although none of these genes is specific to reading-related neuronal circuits, or even to the human brain, they have intriguing roles in neuronal migration or connectivity. Dissection of cognitive mechanisms that subserve reading will ultimately depend on an integrated approach, uniting data from genetic investigations, behavioural studies and neuroimaging.

Abstract

Developmental dyslexia is defined as a specific and significant impairment in reading ability that cannot be explained by deficits in intelligence, learning opportunity, motivation or sensory acuity. It is one of the most frequently diagnosed disorders in childhood, representing a major educational and social problem. It is well established that dyslexia is a significantly heritable trait with a neurobiological basis. The etiological mechanisms remain elusive, however, despite being the focus of intensive multidisciplinary research. All attempts to map quantitative-trait loci (QTLs) influencing dyslexia susceptibility have targeted specific chromosomal regions, so that inferences regarding genetic etiology have been made on the basis of very limited information. Here we present the first two complete QTL-based genome-wide scans for this trait, in large samples of families from the United Kingdom and United States. Using single-point analysis, linkage to marker D18S53 was independently identified as being one of the most significant results of the genome in each scan (P< or =0.0004 for single word-reading ability in each family sample). Multipoint analysis gave increased evidence of 18p11.2 linkage for single-word reading, yielding top empirical P values of 0.00001 (UK) and 0.0004 (US). Measures related to phonological and orthographic processing also showed linkage at this locus. We replicated linkage to 18p11.2 in a third independent sample of families (from the UK), in which the strongest evidence came from a phoneme-awareness measure (most significant P value=0.00004). A combined analysis of all UK families confirmed that this newly discovered 18p QTL is probably a general risk factor for dyslexia, influencing several reading-related processes. This is the first report of QTL-based genome-wide scanning for a human cognitive trait.

Abstract

The rise of molecular genetics is having a pervasive influence in a wide variety of fields, including research into neurodevelopmental disorders like dyslexia, speech and language impairments, and autism. There are many studies underway which are attempting to determine the roles of genetic factors in the aetiology of these disorders. Beyond the obvious implications for diagnosis, treatment and understanding, success in these efforts promises to shed light on the links between genes and aspects of cognition and behaviour. However, the deceptive simplicity of finding correlations between genetic and phenotypic variation has led to a common misconception that there exist straightforward linear relationships between specific genes and particular behavioural and/or cognitive outputs. The problem is exacerbated by the adoption of an abstract view of the nature of the gene, without consideration of molecular, developmental or ontogenetic frameworks. To illustrate the limitations of this perspective, I select two cases from recent research into the genetic underpinnings of neurodevelopmental disorders. First, I discuss the proposal that dyslexia can be dissected into distinct components specified by different genes. Second, I review the story of the FOXP2 gene and its role in human speech and language. In both cases, adoption of an abstract concept of the gene can lead to erroneous conclusions, which are incompatible with current knowledge of molecular and developmental systems. Genes do not specify behaviours or cognitive processes; they make regulatory factors, signalling molecules, receptors, enzymes, and so on, that interact in highly complex networks, modulated by environmental influences, in order to build and maintain the brain. I propose that it is necessary for us to fully embrace the complexity of biological systems, if we are ever to untangle the webs that link genes to cognition.

Abstract

The human capacity to acquire complex language seems to be without parallel in the natural world. The origins of this remarkable trait have long resisted adequate explanation, but advances in fields that range from molecular genetics to cognitive neuroscience offer new promise. Here we synthesize recent developments in linguistics, psychology and neuroimaging with progress in comparative genomics, gene-expression profiling and studies of developmental disorders. We argue that language should be viewed not as a wholesale innovation, but as a complex reconfiguration of ancestral systems that have been adapted in evolutionarily novel ways.

Abstract

The testimony of others and direct experience play a major role in the development of children's knowledge. Children actively use questions to seek others' testimony and explore the environment. It is unclear though whether children distinguish when it is better to ask from when it is better to try to find an answer by oneself. In 2 experiments, we examined the ability of 4- and 6-year-olds to select between looking and asking to determine visible and invisible properties of entities (e.g., hair color vs. knowledge of French). All children chose to look more often for visible than invisible properties. However, only 6-year-olds chose above chance to look for visible properties and to ask for invisible properties. Four-year-olds showed a preference for looking in one experiment and asking in the other. The results suggest substantial development in the efficacy of children's learning in early childhood.

Abstract

It has long been claimed that there is no lexical field of smell, and that smell is of too little validity to be expressed in grammar. We demonstrate both claims are false. The Cha'palaa language (Ecuador) has at least 15 abstract smell terms, each of which is formed using a type of classifier previously thought not to exist. Moreover, using conversational corpora we show that Cha'palaa speakers also talk about smell more than Imbabura Quechua and English speakers. Together, this shows how language and social interaction may jointly reflect distinct cultural orientations towards sensory experience in general and olfaction in particular.

Abstract

Gratitude is argued to have evolved to motivate and maintain social reciprocity among people, and to be linked to a wide range of positive effects — social, psychological, and even physical. But is socially reciprocal behaviour dependent on the expression of gratitude, for example by saying "thank you" as in English? Current research has not included cross-cultural elements, and has tended to conflate gratitude as an emotion with gratitude as a linguistic practice, as might appear to be the case in English. Here we ask to what extent people actually express gratitude in different societies by focussing on episodes of everyday life where someone obtains a good, service, or support from another, and comparing these episodes across eight languages from five continents. What we find is that expressions of gratitude in these episodes are remarkably rare, suggesting that social reciprocity in everyday life relies on tacit understandings of people’s rights and duties surrounding mutual assistance and collaboration. At the same time, we also find minor cross-cultural variation, with slightly higher rates in Western European languages English and Italian, showing that universal tendencies of social reciprocity should not be conflated with more culturally variable practices of expressing gratitude. Our study complements previous experimental and culture-specific research on social reciprocity with a systematic comparison of audiovisual corpora of naturally occurring social interaction from different cultures from around the world.

Abstract

Patients with stroke offer a unique window into understanding human brain function. Mapping stroke lesions poses several challenges due to the complexity of the lesion anatomy and the mechanisms causing local and remote disruption on brain networks. In this prospective longitudinal study, we compare standard and advanced approaches to white matter lesion mapping applied to acute stroke patients with aphasia. Eighteen patients with acute left hemisphere stroke were recruited and scanned within two weeks from symptom onset. Aphasia assessment was performed at baseline and six-month follow-up. Structural and diffusion MRI contrasts indicated an area of maximum overlap in the anterior external/extreme capsule with diffusion images showing a larger overlap extending into posterior perisylvian regions. Anatomical predictors of recovery included damage to ipsilesional tracts (as shown by both structural and diffusion images) and contralesional tracts (as shown by diffusion images only). These findings indicate converging results from structural and diffusion lesion mapping methods but also clear differences between the two approaches in their ability to identify predictors of recovery outside the lesioned regions.

Abstract

The human brain supports acquisition mechanisms that extract structural regularities implicitly from experience without the induction of an explicit model. It has been argued that the capacity to generalize to new input is based on the acquisition of abstract representations, which reflect underlying structural regularities in the input ensemble. In this study, we explored the outcome of this acquisition mechanism, and to this end, we investigated the neural correlates of artificial syntactic classification using event-related functional magnetic resonance imaging. The participants engaged once a day during an 8-day period in a short-term memory acquisition task in which consonant-strings generated from an artificial grammar were presented in a sequential fashion without performance feedback. They performed reliably above chance on the grammaticality classification tasks on days 1 and 8 which correlated with a corticostriatal processing network, including frontal, cingulate, inferior parietal, and middle occipital/occipitotemporal regions as well as the caudate nucleus. Part of the left inferior frontal region (BA 45) was specifically related to syntactic violations and showed no sensitivity to local substring familiarity. In addition, the head of the caudate nucleus correlated positively with syntactic correctness on day 8 but not day 1, suggesting that this region contributes to an increase in cognitive processing fluency.

Abstract

The information we obtain from how speakers sound—for example their accent—affects how we interpret the messages they convey. A clear example is foreign accented speech, where reduced intelligibility and speaker's social categorization (out-group member) affect memory and the credibility of the message (e.g., less trustworthiness). In the present study, we go one step further and ask whether evaluations of messages are also affected by regional accents—accents from a different region than the listener. In the current study, we report results from three experiments on immediate memory recognition and immediate credibility assessments as well as the illusory truth effect. These revealed no differences between messages conveyed in local—from the same region as the participant—and regional accents—from native speakers of a different country than the participants. Our results suggest that when the accent of a speaker has high intelligibility, social categorization by accent does not seem to negatively affect how we treat the speakers' messages.

Abstract

The information we obtain from how speakers sound—for example their accent—affects how we interpret the
messages they convey. A clear example is foreign accented speech, where reduced intelligibility and speaker's
social categorization (out-group member) affect memory and the credibility of the message (e.g., less trust-
worthiness). In the present study, we go one step further and ask whether evaluations of messages are also
affected by regional accents—accents from a different region than the listener. In the current study, we report
results from three experiments on immediate memory recognition and immediate credibility assessments as well
as the illusory truth effect. These revealed no differences between messages conveyed in local—from the same
region as the participant—and regional accents—from native speakers of a different country than the partici-
pants. Our results suggest that when the accent of a speaker has high intelligibility, social categorization by
accent does not seem to negatively affect how we treat the speakers' messages.

Abstract

The aim of the present fMRI study was to investigate whether typical and dyslexic adult readers differed in the neural correlates of audiovisual speech processing. We tested for Blood Oxygen-Level Dependent (BOLD) activity differences between these two groups in a 1-back task, as they processed written (word, illegal consonant strings) and spoken (auditory, visual and audiovisual) stimuli. When processing written stimuli, dyslexic readers showed reduced activity in the supramarginal gyrus, a region suggested to play an important role in phonological processing, but only when they processed strings of consonants, not when they read words. During the speech perception tasks, dyslexic readers were only slower than typical readers in their behavioral responses in the visual speech condition. Additionally, dyslexic readers presented reduced neural activation in the auditory, the visual, and the audiovisual speech conditions. The groups also differed in terms of superadditivity, with dyslexic readers showing decreased neural activation in the regions of interest. An additional analysis focusing on vision-related processing during the audiovisual condition showed diminished activation for the dyslexic readers in a fusiform gyrus cluster. Our results thus suggest that there are differences in audiovisual speech processing between dyslexic and normal readers. These differences might be explained by difficulties in processing the unisensory components of audiovisual speech, more specifically, dyslexic readers may benefit less from visual information during audiovisual speech processing than typical readers. Given that visual speech processing supports the development of phonological skills fundamental in reading, differences in processing of visual speech could contribute to differences in reading ability between typical and dyslexic readers.

Abstract

Genomewide quantitative-trait locus (QTL) linkage analysis was performed using a continuous measure of relative hand skill (PegQ) in a sample of 195 reading-disabled sibling pairs from the United Kingdom. This was the first genomewide screen for any measure related to handedness. The mean PegQ in the sample was equivalent to that of normative data, and PegQ was not correlated with tests of reading ability (correlations between −0.13 and 0.05). Relative hand skill could therefore be considered normal within the sample. A QTL on chromosome 2p11.2-12 yielded strong evidence for linkage to PegQ (empirical P=.00007), and another suggestive QTL on 17p11-q23 was also identified (empirical P=.002). The 2p11.2-12 locus was further analyzed in an independent sample of 143 reading-disabled sibling pairs, and this analysis yielded an empirical P=.13. Relative hand skill therefore is probably a complex multifactorial phenotype with a heterogeneous background, but nevertheless is amenable to QTL-based gene-mapping approaches.

Abstract

A locus on chromosome 2p12-16 has been implicated in dyslexia susceptibility by two independent linkage studies, including our own study of 119 nuclear twin-based families, each with at least one reading-disabled child. Nonetheless, no variant of any gene has been reported to show association with dyslexia, and no consistent clinical evidence exists to identify candidate genes with any strong a priori logic. We used 21 microsatellite markers spanning 2p12-16 to refine our 1-LOD unit linkage support interval to 12cM between D2S337 and D2S286. Then, in quantitative association analysis, two microsatellites yielded P values<0.05 across a range of reading-related measures (D2S2378 and D2S2114). The exon/intron borders of two positional candidate genes within the region were characterized, and the exons were screened for polymorphisms. The genes were Semaphorin4F (SEMA4F), which encodes a protein involved in axonal growth cone guidance, and OTX1, encoding a homeodomain transcription factor involved in forebrain development. Two non-synonymous single nucleotide polymorphisms were found in SEMA4F, each with a heterozygosity of 0.03. One intronic single nucleotide polymorphism between exons 12 and 13 of SEMA4F was tested for quantitative association, but no significant association was found. Only one single nucleotide polymorphism was found in OTX1, which was exonic but silent. Our data therefore suggest that linkage with reading disability at 2p12-16 is not caused by coding variants of SEMA4F or OTX1. Our study outlines the approach necessary for the identification of genetic variants causing dyslexia susceptibility in an epidemiological population of dyslexics.

Abstract

Dyslexia, a disorder of reading and spelling, is a heterogeneous neurological syndrome with a complex genetic and environmental aetiology. People with dyslexia differ in their individual profiles across a range of cognitive, physiological, and behavioural measures related to reading disability. Some or all of the subtypes of dyslexia might have partly or wholly distinct genetic causes. An understanding of the role of genetics in dyslexia could help to diagnose and treat susceptible children more effectively and rapidly than is currently possible and in ways that account for their individual disabilities. This knowledge will also give new insights into the neurobiology of reading and language cognition. Genetic linkage analysis has identified regions of the genome that might harbour inherited variants that cause reading disability. In particular, loci on chromosomes 6 and 18 have shown strong and replicable effects on reading abilities. These genomic regions contain tens or hundreds of candidate genes, and studies aimed at the identification of the specific causal genetic variants are underway.

Abstract

Results from a recent neuroimaging study on spoken sentence comprehension have been interpreted as evidence for cortical entrainment to hierarchical syntactic structure. We present a simple computational model that predicts the power spectra from this study, even
though the model's linguistic knowledge is restricted to the lexical level, and word-level representations are not combined into higher-level units (phrases or sentences). Hence, the
cortical entrainment results can also be explained from the lexical properties of the stimuli, without recourse to hierarchical syntax.

Abstract

When talking, speakers continuously monitor and use the auditory feedback of their own voice to control and inform speech production processes. When speakers are provided with auditory feedback that is perturbed in real time, most of them compensate for this by opposing the feedback perturbation. But some speakers follow the perturbation. In the current study, we investigated whether the state of the speech production system at perturbation onset may determine what type of response (opposing or following) is given. The results suggest that whether a perturbation-related response is opposing or following depends on ongoing fluctuations of the production system: It initially responds by doing the opposite of what it was doing. This effect and the non-trivial proportion of following responses suggest that current production models are inadequate: They need to account for why responses to unexpected sensory feedback depend on the production-system’s state at the time of perturbation.

Abstract

Speaking is a complex motor skill which requires near instantaneous integration of sensory and motor-related information. Current theory hypothesizes a complex interplay between motor and auditory processes during speech production, involving the online comparison of the speech output with an internally generated forward model. To examine the neural correlates of this intricate interplay between sensory and motor processes, the current study uses altered auditory feedback (AAF) in combination with magnetoencephalography (MEG). Participants vocalized the vowel/e/and heard auditory feedback that was temporarily pitch-shifted by only 25 cents, while neural activity was recorded with MEG. As a control condition, participants also heard the recordings of the same auditory feedback that they heard in the first half of the experiment, now without vocalizing. The participants were not aware of any perturbation of the auditory feedback. We found auditory cortical areas responded more strongly to the pitch shifts during vocalization. In addition, auditory feedback perturbation resulted in spectral power increases in the θ and lower β bands, predominantly in sensorimotor areas. These results are in line with current models of speech production, suggesting auditory cortical areas are involved in an active comparison between a forward model's prediction and the actual sensory input. Subsequently, these areas interact with motor areas to generate a motor response. Furthermore, the results suggest that θ and β power increases support auditory-motor interaction, motor error detection and/or sensory prediction processing.

Abstract

Theeffects of spatial filtering in functional magnetic resonance imaging were investigated by reevaluating the data of a previous study of episodic memory encoding at 2 × 2 × 4-mm3 resolution with use of a SPM99 analysis involving a Gaussian kernel of 8-mm full width at half maximum. In addition, a multisubject analysis of activated regions was performed by normalizing the functional images to an approximate Talairach brain atlas. In individual subjects, spatial filtering merged activations in anatomically separated brain regions. Moreover, small foci of activated pixels which originated from veins became blurred and hence indistinguishable from parenchymal responses. The multisubject analysis resulted in activation of the hippocampus proper, a finding which could not be confirmed by the activation maps obtained at high resolution. It is concluded that the validity of multisubject fMRI analyses can be considerably improved by first analyzing individual data sets at optimum resolution to assess the effects of spatial filtering and minimize the risk of signal contamination by macroscopically visible vessels.

Abstract

In list learning paradigms with free recall, written recall has been found to be less susceptible to intrusions of related concepts than spoken recall when the list items had been visually presented. This effect has been ascribed to the use of stored orthographic representations from the study phase during written recall (Kellogg, 2001). In other memory retrieval paradigms, by contrast, either better recall for modality-congruent items or an input-independent writing superiority effect have been found (Grabowski, 2005). In a series of four experiments using a paired associate learning paradigm we tested (a) whether output modality effects on verbal recall can be replicated in a paradigm that does not involve the rejection of semantically related intrusion words, (b) whether a possible superior performance for written recall was due to a slower response onset for writing as compared to speaking in immediate recall, and (c) whether the performance in paired associate word recall was correlated with performance in an additional episodic memory recall task. We observed better written recall in the first half of the recall phase, irrespective of the modality in which the material was presented upon encoding. An explanation for this effect based on longer response latencies for writing and hence more time for memory retrieval could be ruled out by showing that the effect persisted in delayed response versions of the task. Although there was some evidence that stored additional episodic information may contribute to the successful retrieval of associate words, this evidence was only found in the immediate response experiments and hence is most likely independent from the observed output modality effect. In sum, our results from a paired associate learning paradigm suggest that superior performance for written vs. spoken recall cannot be (solely) explained in terms of additional access to stored orthographic representations from the encoding phase. Our findings rather suggest a general writing-superiority effect at the time of memory retrieval.

Abstract

Segmentation (and, indeed, definition) of the human body in Kuuk Thaayorre (a Paman language of Cape York Peninsula, Australia) is in some respects typologically unusual, while at other times it conforms to cross-linguistic patterns. The process of deriving complex body part terms from monolexemic items is revealing of metaphorical associations between parts of the body. Associations between parts of the body and entities and phenomena in the broader environment are evidenced by the ubiquity of body part terms (in their extended uses) throughout Thaayorre speech. Understanding the categorisation of the body is therefore prerequisite to understanding the Thaayorre language and worldview.

Abstract

The Error-Related Negativity (ERN) is a component of the event-related brain potential (ERP) that is associated with action monitoring and error detection. The present study addressed the question whether or not an ERN occurs after verbal error detection, e.g., during phoneme monitoring.We obtained an ERN following verbal errors which showed a typical decrease in amplitude under severe time pressure. This result demonstrates that the functioning of the verbal self-monitoring system is comparable to other performance monitoring, such as action monitoring. Furthermore, we found that participants made more errors in phoneme monitoring under time pressure than in a control condition. This may suggest that time pressure decreases the amount of resources available to a capacity-limited self-monitor thereby leading to more errors.

Abstract

The present study investigated whether Short Message Service shortcuts are more difficult to process in sentence context than the spelled-out word equivalent and, if so, how any additional processing difficulty arises. Twenty-four student participants read 37 Short Message Service shortcuts and word equivalents embedded in semantically plausible and implausible contexts (e.g., He left/drank u/you a note) while their eye movements were recorded. There were effects of plausibility and spelling on early measures of processing difficulty (first fixation durations, gaze durations, skipping, and first-pass regression rates for the targets), but there were no interactions of plausibility and spelling. Late measures of processing difficulty (second run gaze duration and total fixation duration) were only affected by plausibility but not by spelling. These results suggest that shortcuts are harder to recognize, but that, once recognized, they are integrated into the sentence context as easily as ordinary words.

Abstract

Resource-constrained models of language processing predict that perceptual simulation during language understanding would be compromised by sensory limitations (such as reading text in unfamiliar/difficult font), whereas strong versions of embodied theories of language would predict that simulating perceptual symbols in language would not be impaired even under sensory-constrained situations. In 2 experiments, sensory decoding difficulty was manipulated by using easy and hard fonts to study perceptual simulation during sentence reading (Zwaan, Stanfield, & Yaxley, 2002). Results indicated that simulating perceptual symbols in language was not compromised by surface-form decoding challenges such as difficult font, suggesting relative resilience of embodied language processing in the face of certain sensory constraints. Further implications for learning from text and individual differences in language processing will be discussed

Abstract

This article investigates the word order preferences of Tagalog-speaking adults and five- and seven-year-old children. The participants were asked to complete sentences to describe pictures depicting actions between two animate entities. Adults preferred agent-initial constructions in the patient voice but not in the agent voice, while the children produced mainly agent-initial constructions regardless of voice. This agent-initial preference, despite the lack of a close link between the agent and the subject in Tagalog, shows that this word order preference is not merely syntactically-driven (subject-initial preference). Additionally, the children’s agent-initial preference in the agent voice, contrary to the adults’ lack of preference, shows that children do not respect the subject-last principle of ordering Tagalog full noun phrases. These results suggest that language-specific optional features like a subject-last principle take longer to be acquired.

Abstract

The Perceptual Loop Theory of speech monitoring assumes that speakers routinely inspect their inner speech. In contrast, Huettig and Hartsuiker (2010) observed that listening to one’s own speech during language production drives eye-movements to phonologically related printed words with a similar time-course as listening to someone else’s speech does in speech perception experiments. This suggests that speakers listen to their own overt speech, but not to their inner speech. However, a direct comparison between production and perception with the same stimuli and participants is lacking so far. The current printed word eye-tracking experiment therefore used a within-subjects design, combining production and perception. Displays showed four words, of which one, the target, either had to be named or was presented auditorily. Accompanying words were phonologically related, semantically related, or unrelated to the target. There were small increases in looks to phonological competitors with a similar time-course in both production and perception. Phonological effects in perception however lasted longer and had a much larger magnitude. We conjecture that this difference is related to a difference in predictability of one’s own and someone else’s speech, which in turn has consequences for lexical competition in other-perception and possibly suppression of activation in self-perception.

Abstract

Our species displays remarkable linguistic diversity. While the uneven distribution of this diversity demands explanation, the drivers of these patterns have not been conclusively determined. We address this issue in two steps. First, we review previous empirical studies that have suggested environmental, geographical, and socio-cultural drivers of linguistic diversification. However, contradictory results and methodological variation make it difficult to draw general conclusions. Second, we outline a program for future research. We suggest that future analyses should account for interactions among causal factors, lack of spatial and phylogenetic independence of data, and transitory patterns. Recent analytical advances in biogeography and evolutionary biology, such as simulation modeling of diversity patterns, hold promise for testing four key mechanisms of language diversification proposed here: neutral change, population movement, contact, and selection. Future modeling approaches should also evaluate how the outcomes of these processes are influenced by demography, environmental heterogeneity, and time.

Abstract

Does spatial language influence how people think about space? To address this question, we observed children who did not know a conventional language, and tested their performance on nonlinguistic spatial tasks. We studied deaf children living in Istanbul whose hearing losses prevented them from acquiring speech and whose hearing parents had not exposed them to sign. Lacking a conventional language, the children used gestures, called homesigns, to communicate. In Study 1, we asked whether homesigners used gesture to convey spatial relations, and found that they did not. In Study 2, we tested a new group of homesigners on a Spatial Mapping Task, and found that they performed significantly worse than hearing Turkish children who were matched to the deaf children on another cognitive task. The absence of spatial language thus went hand-in-hand with poor performance on the nonlinguistic spatial task, pointing to the importance of spatial language in thinking about space.

Abstract

This article presents information about two so far undescribed buildings made by the Trobriand Islanders, the bomiyoyeva and the bomduvadova. These structures are connected to the highest-ranking chiefs living in Labai and Omarakana on Kiriwina Island. They highlight the power and eminence of these chiefs. After a brief report on the history of this project, the structure of the two houses, their function, and their use is described and information on their construction and their mythical background is provided. Finally, everyday as well as ritual, social, and political functions of both buildings are discussed. [Melanesia, Trobriand Islands, Tabalu chiefs, yams houses, bomiyoyeva, bomduvadova, authoritative capacities]

Abstract

Wilson disease (WD) is an autosomal recessive disorder resulting in pathological progressive copper accumulation in liver and other tissues. The worldwide prevalence (P) is about 30/million, while in Sardinia it is in the order of 1/10 000. However, all of these estimates are likely to suffer from an underdiagnosis bias. Indeed, a recent molecular neonatal screening in Sardinia reported a WD prevalence of 1:2707. In this study, we used a new approach that makes it possible to estimate the allelic frequency (q) of an autosomal recessive disorder if one knows the proportion between homozygous and compound heterozygous patients (the homozygosity index or HI) and the inbreeding coefficient (F) in a sample of affected individuals. We applied the method to a set of 178 Sardinian individuals (3 of whom born to consanguineous parents), each with a clinical and molecular diagnosis of WD. Taking into account the geographical provenance of the parents of every patient within Sardinia (to make F computation more precise), we obtained a q=0.0191 (F=7.8 × 10-4, HI=0.476) and a corresponding prevalence P=1:2732. This result confirms that the prevalence of WD is largely underestimated in Sardinia. On the other hand, the general reliability and applicability of the HI approach to other autosomal recessive disorders is confirmed, especially if one is interested in the genetic epidemiology of populations with high frequency of consanguineous marriages.

Abstract

First paragraph: The study of the transmission of sign languages can give novel insights into the transmission of spoken languages1 and, more generally, into gene–culture coevolution. Over the years, several papers related to the persistence of sign language have been
reported.2–6 All of these studies have emphasized the role of assortative (non-random) mating by deafness state (ie, a tendency for deaf individuals to partner together) for increasing the frequency of recessive deafness, and hence for the persistence of sign language in a population.

Abstract

Everyday conversation requires listeners to quickly recognize verbal actions, so-called speech acts, from the underspecified linguistic code and prepare a relevant response within the tight time constraints of turn-taking. The goal of this study was to determine the time-course of speech act recognition by investigating oscillatory EEG activity during comprehension of spoken dialogue. Participants listened to short, spoken dialogues with target utterances that delivered three distinct speech acts (Answers, Declinations, Pre-offers). The targets were identical across conditions at lexico-syntactic and phonetic/prosodic levels but differed in the pragmatic interpretation of the speech act performed. Speech act comprehension was associated with reduced power in the alpha/beta bands just prior to Declination speech acts, relative to Answers and Pre-offers. In addition, we observed reduced power in the theta band during the beginning of Declinations, relative to Answers. Based on the role of alpha and beta desynchronization in anticipatory processes, the results are taken to indicate that anticipation plays a role in speech act recognition. Anticipation of speech acts could be critical for efficient turn-taking, allowing interactants to quickly recognize speech acts and respond within the tight time frame characteristic of conversation. The results show that anticipatory processes can be triggered by the characteristics of the interaction, including the speech act type.

Abstract

According to the cue-based parsing approach (Lewis, Vasishth, & Van Dyke, 2006), sentence comprehension difficulty derives from interference from material that partially matches syntactic and semantic retrieval cues. In a 2 (low vs. high semantic interference) × 2 (low vs. high syntactic interference) fMRI study, greater activation was observed in left BA44/45 for high versus low syntactic interference conditions following sentences and in left BA45/47 for high versus low semantic interference conditions following comprehension questions. A conjunction analysis showed BA45 associated with both types of interference, while BA47 was associated with only semantic interference. Greater activation was also observed in the left STG in the high interference conditions. Importantly, the results for the LIFG could not be attributed to greater working memory capacity demands for high interference conditions. The results favor a fractionation of the LIFG wherein BA45 is associated with post-retrieval selection and BA47 with controlled retrieval of semantic information.

Abstract

Native listeners make use of higher-level, context-driven semantic and linguistic information during the perception of speech-in-noise. In a recent behavioral study, using a new paradigm that isolated the semantic level of speech by using words, we showed that this native-language benefit is at least partly driven by semantic context (Golestani et al., 2009). Here, we used the same paradigm in a functional magnetic resonance imaging (fMRI) experiment to study the neural bases of speech intelligibility, as well as to study the neural bases of this semantic context effect in the native language. A forced-choice recognition task on the first of two auditorily presented semantically related or unrelated words was employed, where the first, 'target' word was embedded in different noise levels. Results showed that activation in components of the brain language network, including Broca's area and the left posterior superior temporal sulcus, as well as brain regions known to be functionally related to attention and task difficulty, was modulated by stimulus intelligibility. In line with several previous studies examining the role of linguistic context in the intelligibility of degraded speech at the sentence level, we found that activation in the angular gyrus of the left inferior parietal cortex was modulated by the presence of semantic context, and further, that this modulation depended on the intelligibility of the speech stimuli. Our findings help to further elucidate neural mechanisms underlying the interaction of context-driven and signal-driven factors during the perception of degraded speech, and this specifically at the semantic level. (c) 2013 Elsevier Inc. All rights reserved.

Abstract

This study investigated whether relative lexical proficiency in Dutch and English in child second language (L2) learners is related to executive functioning. Participants were Dutch primary school pupils of three different age groups (4–5, 8–9, and 11–12 years) who either were enrolled in an early-English schooling program or were age-matched controls not on that early-English program. Participants performed tasks that measured switching, inhibition, and working memory. Early-English program pupils had greater knowledge of English vocabulary and more balanced Dutch–English lexicons. In both groups, lexical balance, a ratio measure obtained by dividing vocabulary scores in English by those in Dutch, was related to switching but not to inhibition or working memory performance. These results show that for children who are learning an L2 in an instructional setting, and for whom managing two languages is not yet an automatized process, language balance may be more important than L2 proficiency in influencing the relation between childhood bilingualism and switching abilities.

Abstract

Researchers are beginning to uncover the neurogenetic pathways that underlie our unparalleled capacity for spoken language. Initial clues come from identification of genetic risk factors implicated in developmental language disorders. The underlying genetic architecture is complex, involving a range of molecular mechanisms. For example, rare protein-coding mutations of the FOXP2 transcription factor cause severe problems with sequencing of speech sounds, while common genetic risk variants of small effect size in genes like CNTNAP2, ATP2C2 and CMIP are associated with typical forms of language impairment. In this article, we describe how investigations of these and other candidate genes, in humans, animals and cellular models, are unravelling the connections between genes and cognition. This depends on interdisciplinary research at multiple levels, from determining molecular interactions and functional roles in neural cell-biology all the way through to effects on brain structure and activity.

Abstract

Absolute pitch and synesthesia are two uncommon cognitive traits that reflect increased neuronal connectivity and have been anecdotally reported to occur together in a same individual. Here we systematically evaluate the occurrence of syesthesia in a population of 768 subjects with documented absolute pitch. Out of these 768 subjects, 151(20.1%) reported synesthesia, most commonly with color. These self-reports of synesthesia were validated in a subset of 21 study subjects using an established methodology. We further carried out combined linkage analysis of 53 multiplex families with absolute pitch and 36 multiplex families with synesthesia. We observed a peak NPL LOD=4.68 on chromosome 6q, as well as evidence of linkage on chromosome 2 using a dominant model. These data establish the close phenotypic and genetic relationship between absolute pitch and synesthesia. The chromosome 6 linkage region contains 73 genes; several leading candidate genes involved in neurodevelopment were investigated by exon resequencing. However, further studies will be required to definitively establish the identity of the causative gene(s) in the region.

Abstract

Selective brain responses to objects arise within a few hundreds of milliseconds of neural processing, suggesting that visual object recognition is mediated by rapid feed-forward activations. Yet disruption of neural responses in early visual cortex beyond feed-forward processing stages affects object recognition performance. Here, we unite these discrepant findings by reporting that object recognition involves enhanced feedback activity (recurrent processing within early visual cortex) when target objects are embedded in natural scenes that are characterized by high complexity. Human participants performed an animal target detection task on natural scenes with low, medium or high complexity as determined by a computational model of low-level contrast statistics. Three converging lines of evidence indicate that feedback was selectively enhanced for high complexity scenes. First, functional magnetic resonance imaging (fMRI) activity in early visual cortex (V1) was enhanced for target objects in scenes with high, but not low or medium complexity. Second, event-related potentials (ERPs) evoked by target objects were selectively enhanced at feedback stages of visual processing (from ~220 ms onwards) for high complexity scenes only. Third, behavioral performance for high complexity scenes deteriorated when participants were pressed for time and thus less able to incorporate the feedback activity. Modeling of the reaction time distributions using drift diffusion revealed that object information accumulated more slowly for high complexity scenes, with evidence accumulation being coupled to trial-to-trial variation in the EEG feedback response. Together, these results suggest that while feed-forward activity may suffice to recognize isolated objects, the brain employs recurrent processing more adaptively in naturalistic settings, using minimal feedback for simple scenes and increasing feedback for complex scenes.

Abstract

Magnetoencephalographic (MEG) recordings are a rich source of information about the neural dynamics underlying cognitive processes in the brain, with excellent temporal and good spatial resolution. In recent years there have been considerable advances in MEG hardware developments as well as methodological developments. Sophisticated analysis techniques are now routinely applied and continuously improved, leading to fascinating insights into the intricate dynamics of neural processes. However, the rapidly increasing level of complexity of the different steps in a MEG study make it difficult for novices, and sometimes even for experts, to stay aware of possible limitations and caveats. Furthermore, the complexity of MEG data acquisition and data analysis requires special attention when describing MEG studies in publications, in order to facilitate interpretation and reproduction of the results. This manuscript aims at making recommendations for a number of important data acquisition and data analysis steps and suggests details that should be specified in manuscripts reporting MEG studies. These recommendations will hopefully serve as guidelines that help to strengthen the position of the MEG research community within the field of neuroscience, and may foster discussion within the community in order to further enhance the quality and impact of MEG research.

Abstract

This paper outlines some reasons for why gestures are relevant to the study of SLA. First, given cross-cultural and cross-linguistic gestural repertoires, gestures can be treated as part of what learners can acquire in a target language. Gestures can therefore be studied as a developing system in their own right both in L2 production and comprehension. Second, because of the close link between gestures, language, and speech, learners' gestures as deployed in L2 usage and interaction can offer valuable insights into the processes of acquisition, such as the handling of expressive difficulties, the influence of the first language, interlanguage phenomena, and possibly even into planning and processing difficulties. As a form of input to learners and to their interlocutors alike, finally, gestures also play a potential role for comprehension and learning.

Abstract

This study investigates whether addressees visually attend to speakers’ gestures in interaction and whether attention is modulated by changes in social setting and display size. We compare a live face-to-face setting to two video conditions. In all conditions, the face dominates as a fixation target and only a minority of gestures draw fixations. The social and size parameters affect gaze mainly when combined and in the opposite direction from the predicted with fewer gestures fixated on video than live. Gestural holds and speakers’ gaze at their own gestures reliably attract addressees’ fixations in all conditions. The attraction force of holds is unaffected by changes in social and size parameters, suggesting a bottom-up response, whereas speaker-fixated gestures draw significantly less attention in both video conditions, suggesting a social effect for overt gaze-following and visual joint attention. The study provides and validates a video-based paradigm enabling further experimental but ecologically valid explorations of cross-modal information processing.

Abstract

The production of cohesive discourse, especially maintained reference, poses problems for early second language (L2) speakers. This paper considers a communicative account of overexplicit L2 discourse by focusing on the interdependence between spoken and gestural cohesion, the latter being expressed by anchoring of referents in gesture space. Specifically, this study investigates whether overexplicit maintained reference in speech (lexical noun phrases [NPs]) and gesture (anaphoric gestures) constitutes an interactional communication strategy. We examine L2 speech and gestures of 16 Dutch learners of French retelling stories to addressees under two visibility conditions. The results indicate that the overexplicit properties of L2 speech are not motivated by interactional strategic concerns. The results for anaphoric gestures are more complex. Although their presence is not interactionally

Abstract

All accounts of communicative behaviour in general, and communicative strategies in particular, mention gesture1 in relation to language acquisition (cf. Faerch & Kasper 1983 for an overview). However, few attempts have been made to investigate how spoken language and spontaneous gesture combine to determine discourse referents. Referential gesture and referential discourse will be of particular interest, since communicative strategies in second language discourse often involve labelling problems.

This paper will focus on two issues:

1) Within a cognitive account of communicative strategies, gesture will be seen to be part of conceptual or analysis-based strategies, in that relational features in the referents are exploited;

2) It will be argued that communication strategies can be seen in terms of cue manipulation in the same sense as sentence processing has been analysed in terms of competing cues. Strategic behaviour, and indeed the process of referring in general, are seen in terms of cues, combining or competing to determine discourse referents. Gesture can then be regarded as being such a cue at the discourse level, and as a cue-based communicative strategy, in that gesture functions by exploiting physically based cues which can be recognised as being part of the referent. The question of iconicity and motivation vs. the arbitrary qualities of gesture as a strategic cue will be addressed in connection with this.

Abstract

Since listeners usually look at the speaker's face, gestural information has to be absorbed through peripheral visual perception. In the literature, it has been suggested that listeners look at gestures under certain circumstances: 1) when the articulation of the gesture is peripheral; 2) when the speech channel is insufficient for comprehension; and 3) when the speaker him- or herself indicates that the gesture is worthy of attention. The research here reported employs eye tracking techniques to study the perception of gestures in face-to-face interaction. The improved control over the listener's visual channel allows us to test the validity of the above claims. We present preliminary findings substantiating claims 1 and 3, and relate them to theoretical proposals in the literature and to the issue of how visual and cognitive attention are related.

Abstract

The central issue of this study concerns the claim that the processing of gender agreement in online sentence comprehension is a syntactic rather than a conceptual/semantic process. This claim was tested for the grammatical gender agreement in Dutch between the definite article and the noun. Subjects read sentences in which the definite article and the noun had the same gender and sentences in which the gender agreement was violated, While subjects read these sentences, their electrophysiological activity was recorded via electrodes placed on the scalp. Earlier research has shown that semantic and syntactic processing events manifest themselves in different event-related brain potential (ERP) effects. Semantic integration modulates the amplitude of the so-called N400.The P600/SPS is an ERP effect that is more sensitive to syntactic processes. The violation of grammatical gender agreement was found to result in a P600/SPS. For violations in sentence-final position, an additional increase of the N400 amplitude was observed. This N400 effect is interpreted as resulting from the consequence of a syntactic violation for the sentence-final wrap-up. The overall pattern of results supports the claim that the on-line processing of gender agreement information is not a content driven but a syntactic-form driven process.

Abstract

A neurobiological model of language is discussed that overcomes the shortcomings of the classical Wernicke-Lichtheim-Geschwind model. It is based on a subdivision of language processing into three components: Memory, Unification, and Control. The functional components as well as the neurobiological underpinnings of the model are discussed. In addition, the need for extension of the model beyond the classical core regions for language is shown. Attentional networks as well as networks for inferential processing are crucial to realize language comprehension beyond single word processing and beyond decoding propositional content. It is shown that this requires the dynamic interaction between multiple brain regions.

Abstract

Silent reading and reading aloud of German words and pseudowords were used in a PET study using (15O)butanol to examine the neural correlates of reading and of the phonological conversion of legal letter strings, with or without meaning.
The results of 11 healthy, right-handed volunteers in the age range of 25 to 30 years showed activation of the lingual gyri during silent reading in comparison with viewing a fixation cross. Comparisons between the reading of words and pseudowords suggest the involvement of the middle temporal gyri in retrieving both the phonological and semantic code for words. The reading of pseudowords activates the left inferior frontal gyrus, including the ventral part of Broca’s area, to a larger extent than the reading of words. This suggests that this area might be involved in the sublexical conversion of orthographic input strings into phonological output codes. (Pre)motor areas were found to be activated during both silent reading and reading aloud. On the basis of the obtained activation patterns, it is hypothesized that the articulation of high-frequency syllables requires the retrieval of their concomitant articulatory gestures from the SMA and that the articulation of lowfrequency syllables recruits the left medial premotor cortex.

Abstract

First paragraph:
MacDonald (2013) proposes that distributional properties of language and processing biases in language comprehension can to a large extent be attributed to consequences of the language production process. In essence, the account is derived from the principle of least effort that was formulated by Zipf, among others (Zipf, 1949; Levelt, 2013). However, in Zipf's view the outcome of the least effort principle was a compromise between least effort for the speaker and least effort for the listener, whereas MacDonald puts most of the burden on the production process.

Abstract

Children’s songs often contain rhyming words at phrase endings. In this study, we investigated whether infants can already recognize this phonological pattern in songs. Earlier studies using lists of spoken words were equivocal on infants’ spontaneous processing of rhymes (Hayes, Slater, & Brown, 2000; Jusczyk, Goodman, & Baumann, 1999). Songs, however, constitute an ecologically valid rhyming stimulus, which could allow for spontaneous processing of this phonological pattern in infants. Novel children’s songs with rhyming and non-rhyming lyrics using pseudo-words were presented to 35 9-month-old Dutch infants using the Headturn Preference Procedure. Infants on average listened longer to the non-rhyming songs, with around half of the infants however exhibiting a preference for the rhyming songs. These results highlight that infants have the processing abilities to benefit from their natural rhyming input for the development of their phonological abilities.

Abstract

We explore the nature of the oscillatory dynamics in the EEG of subjects reading sentences that contain a semantic violation. More specifically, we examine whether increases in theta (≈3–7 Hz) and gamma (around 40 Hz) band power occur in response to sentences that were either semantically correct or contained a semantically incongruent word (semantic violation). ERP results indicated a classical N400 effect. A wavelet-based time-frequency analysis revealed a theta band power increase during an interval of 300–800 ms after critical word onset, at temporal electrodes bilaterally for both sentence conditions, and over midfrontal areas for the semantic violations only. In the gamma frequency band, a predominantly frontal power increase was observed during the processing of correct sentences. This effect was absent following semantic violations. These results provide a characterization of the oscillatory brain dynamics, and notably of both theta and gamma oscillations, that occur during language comprehension.

Abstract

The present study investigated the developmental interrelationships between play, gesture use and spoken language development in children aged 18–31 months. The children completed two tasks: (i) a structured measure of pretend (or ‘symbolic’) play and (ii) a measure of vocabulary knowledge in which children have been shown to gesture. Additionally, their productive spoken language knowledge was measured via parental report. The results indicated that symbolic play is positively associated with children’s gesture use, which in turn is positively associated with spoken language knowledge over and above the influence of age. The tripartite relationship between gesture, play and language development is discussed with reference to current developmental theory.

Abstract

This paper studies the robustness of exemplar effects in word comprehension by means of four long-term priming experiments with lexical decision tasks in Dutch. A prime and target represented the same word type and were presented with the same or different degree of reduction. In Experiment 1, participants heard only a small number of trials, a large proportion of repeated words, and stimuli produced by only one speaker. They recognized targets more quickly if these represented the same degree of reduction as their primes, which forms additional evidence for the exemplar effects reported in the literature. Similar effects were found for two speakers who differ in their pronunciations. In Experiment 2, with a smaller proportion of repeated words and more trials between prime and target, participants recognized targets preceded by primes with the same or a different degree of reduction equally quickly. Also, in Experiments 3 and 4, in which listeners were not exposed to one but two types of pronunciation variation (reduction degree and speaker voice), no exemplar effects arose. We conclude that the role of exemplars in speech comprehension during natural conversations, which typically involve several speakers and few repeated content words, may be smaller than previously assumed.

Abstract

This paper investigates the nature of reduction phenomena in informal speech. It addresses the question whether reduction processes that affect many word types, but only if they occur in connected informal speech, may be categorical in nature. The focus is on reduction of schwa in the prefixes and on word-final /t/ in Dutch past participles. More than 2000 tokens of past participles from the Ernestus Corpus of Spontaneous Dutch and the Spoken Dutch Corpus (both from the interview and read speech component) were transcribed automatically. The results demonstrate that the presence and duration of /t/ are affected by approximately the same phonetic variables, indicating that the absence of /t/ is the extreme result of shortening, and thus results from a gradient reduction process. Also for schwa, the data show that mainly phonetic variables influence its reduction, but its presence is affected by different and more variables than its duration, which suggests that the absence of schwa may result from gradient as well as categorical processes. These conclusions are supported by the distributions of the segments’ durations. These findings provide evidence that reduction phenomena which affect many words in informal conversations may also result from categorical reduction processes.

Abstract

Drawings of objects were presented in series of 54 each to 14 German speaking subjects with the tasks to indicate by button presses a) whether the grammatical gender of an object name was masculine ("der") or feminine ("die") and b) whether the depicted object was man-made or nature-made. The magnetoencephalogram (MEG) was recorded with a whole-head neuromagnetometer and task-specific patterns of brain activity were determined in the source space (Minimum Norm Estimates, MNE). A left-temporal focus of activity 150-275 ms after stimulus onset in the gender decision compared to the semantic classification task was discussed as indicating the retrieval of syntactic information, while a more expanded left hemispheric activity in the gender relative to the semantic task 300-625 ms after stimulus onset was discussed as indicating phonological encoding. A predominance of activity in the semantic task was observed over right fronto-central region 150-225 ms after stimulus-onset, suggesting that semantic and syntactic processes are prominent in this stage of lexical selection.

Abstract

Recent decades have ushered in tremendous progress in understanding the neural basis of language. Most of our current knowledge on language and the brain, however, is derived from lab-based experiments that are far removed from everyday language use, and that are inspired by questions originating in linguistic and psycholinguistic contexts. In this paper we argue that in order to make progress, the field needs to shift its focus to understanding the neurobiology of naturalistic language comprehension. We present here a new conceptual framework for understanding the neurobiological organization of language comprehension. This framework is non-language-centered in the computational/neurobiological constructs it identifies, and focuses strongly on context. Our core arguments address three general issues: (i) the difficulty in extending language-centric explanations to discourse; (ii) the necessity of taking context as a serious topic of study, modeling it formally and acknowledging the limitations on external validity when studying language comprehension outside context; and (iii) the tenuous status of the language network as an explanatory construct. We argue that adopting this framework means that neurobiological studies of language will be less focused on identifying correlations between brain activity patterns and mechanisms postulated by psycholinguistic theories. Instead, they will be less self-referential and increasingly more inclined towards integration of language with other cognitive systems, ultimately doing more justice to the neurobiological organization of language and how it supports language as it is used in everyday life.

Abstract

Comparatively little is known about the inherited primate background underlying human cognition, the human cognitive “wild-type.” Yet it is possible to trace the evolution of human cognitive abilities and tendencies by contrasting the skills of our nearest cousins, not just chimpanzees, but all the extant great apes, thus showing what we are likely to have inherited from the common ancestor [1]. By looking at human infants early in cognitive development, we can also obtain insights into native cognitive biases in our species [2]. Here, we focus on spatial memory, a central cognitive domain. We show, first, that all nonhuman great apes and 1-year-old human infants exhibit a preference for place over feature strategies for spatial memory. This suggests the common ancestor of all great apes had the same preference. We then examine 3-year-old human children and find that this preference reverses. Thus, the continuity between our species and the other great apes is masked early in human ontogeny. These findings, based on both phylogenetic and ontogenetic contrasts, open up the prospect of a systematic evolutionary psychology resting upon the cladistics of cognitive preferences.

Abstract

Current approaches to human cognition often take a strong nativist stance based on Western adult performance, backed up where possible by neonate and infant research and almost never by comparative research across the Hominidae. Recent research suggests considerable cross-cultural differences in cognitive strategies, including relational thinking, a domain where infant research is impossible because of lack of cognitive maturation. Here, we apply the same paradigm across children and adults of different cultures and across all nonhuman great ape genera. We find that both child and adult spatial cognition systematically varies with language and culture but that, nevertheless, there is a clear inherited bias for one spatial strategy in the great apes. It is reasonable to conclude, we argue, that language and culture mask the native tendencies in our species. This cladistic approach suggests that the correct perspective on human cognition is neither nativist uniformitarian nor ‘‘blank slate’’ but recognizes the powerful impact that language and culture can have on our shared primate cognitive biases.

Abstract

We here review existing evidence for majority influences in children under the age of ten years and comparable studies with animals ranging from fish to apes. Throughout the review, we structure the discussion surrounding majority influences by differentiating the behaviour of individuals in the presence of a majority and the underlying mechanisms and motivations. Most of the relevant research to date in both developmental psychology and comparative psychology has focused on the behavioural outcomes, where a multitude of mechanisms could be at play. We further propose that interpreting cross-species differences in behavioural patterns is difficult without considering the psychology of the individual. Some attempts at this have been made both in developmental psychology and comparative psychology. We propose that physiological measures should be used to subsidize behavioural studies in an attempt to understand the composition of mechanisms and motivations underlying majority influence. We synthesize the relevant evidence on human brain function in order to provide a framework for future investigation in this area. In addition to streamlining future research efforts, we aim to create a conceptual platform for productive exchanges across the related disciplines of developmental and comparative psychology.

Abstract

Literacy affects many aspects of cognitive and linguistic processing. Among them, it increases the salience of words as units of linguistic processing. Here, we explored the impact of literacy acquisition on children’s learning of an artifical language. Recent accounts of L1–L2 differences relate adults’ greater difficulty with language learning to their smaller reliance on multiword units. In particular, multiword units are claimed to be beneficial for learning opaque grammatical relations like grammatical gender. Since literacy impacts the reliance on words as units of processing, we ask if and how acquiring literacy may change children’s language-learning results. We looked at children’s success in learning novel noun labels relative to their success in learning article-noun gender agreement, before and after learning to read. We found that preliterate first graders were better at learning agreement (larger units) than at learning nouns (smaller units), and that the difference between the two trial types significantly decreased after these children acquired literacy. In contrast, literate third graders were as good in both trial types. These findings suggest that literacy affects not only language processing, but also leads to important differences in language learning. They support the idea that some of children’s advantage in language learning comes from their previous knowledge and experience with language—and specifically, their lack of experience with written texts.

Abstract

Objective
The aim was to assess whether loci associated with metabolic traits also have a significant role in BMI and mental traits/disorders
Methods
We first assessed the number of single nucleotide polymorphisms (SNPs) with genome-wide significance for human metabolism (NHGRI-EBI Catalog). These 516 SNPs (216 independent loci) were looked-up in genome-wide association studies for association with body mass index (BMI) and the mental traits/disorders educational attainment, neuroticism, schizophrenia, well-being, anxiety, depressive symptoms, major depressive disorder, autism-spectrum disorder, attention-deficit/hyperactivity disorder, Alzheimer's disease, bipolar disorder, aggressive behavior, and internalizing problems. A strict significance threshold of p < 6.92 × 10−6 was based on the correction for 516 SNPs and all 14 phenotypes, a second less conservative threshold (p < 9.69 × 10−5) on the correction for the 516 SNPs only.
Results
19 SNPs located in nine independent loci revealed p-values < 6.92 × 10−6; the less strict criterion was met by 41 SNPs in 24 independent loci. BMI and schizophrenia showed the most pronounced genetic overlap with human metabolism with three loci each meeting the strict significance threshold. Overall, genetic variation associated with estimated glomerular filtration rate showed up frequently; single metabolite SNPs were associated with more than one phenotype. Replications in independent samples were obtained for BMI and educational attainment.
Conclusions
Approximately 5–10% of the regions involved in the regulation of blood/urine metabolite levels seem to also play a role in BMI and mental traits/disorders and related phenotypes. If validated in metabolomic studies of the respective phenotypes, the associated blood/urine metabolites may enable novel preventive and therapeutic strategies.

Abstract

Here we examined the role of bilingualism on cognitive inhibition using the Stroop Colour Word task. Our hypothesis was that the frequency of use of a second language (L2) in the daily life of successive bilingual individuals impacts the efficiency of their inhibitory control mechanism. Thirty-three highly proficient successive French–German bilinguals, living either in a French or in a German linguistic environment, performed a Stroop task on both French and German words. Moreover, 31 French monolingual individuals were also tested with French words. We showed that the bilingual advantage was (i) reinforced by the use of a third language, and (ii) modulated by the duration of immersion in a second language environment. This suggests that top–down inhibitory control is most involved at the beginning of immersion. Taken together, the present findings lend support to the psycholinguistic models of bilingual language processing that postulate that top–down active inhibition is involved in language control.

Abstract

Interrogative structures such as ‘Could you pass the salt? and ‘Couldn’t you pass the salt?’ can be used for making requests. A study of such pairs within a conversation analytic framework suggests that these are not used interchangeably, and that they have different impacts on the interaction. Focusing on Danish interactions between elderly care recipients and their home help assistants, I demonstrate how the care recipient displays different degrees of stance towards whether she is entitled to make a request or not, depending on whether she formats her request as a positive or a negative interrogative. With a positive interrogative request, the care recipient orients to her request as one she is not entitled to make. This is underscored by other features, such as the use of mitigating devices and the choice of verb. When accounting for this type of request, the care recipient ties the request to the specific situation she is in, at the moment in which the request is produced. In turn, the home help assistant orients to the lack of entitlement by resisting the request. With a negative interrogative request, the care recipient, in contrast, orients to her request as one she is entitled to make. This is strengthened by the choice of verb and the lack of mitigating devices. When such requests are accounted for, the requested task is treated as something that should be routinely performed, and hence as something the home help assistant has neglected to do. In turn, the home help assistant orients to the display of entitlement by treating the request as unproblematic, and by complying with it immediately.

Abstract

The interaction between C-X-C chemokine receptor type 4 (CXCR4) and its cognate ligand C-X-C motif chemokine ligand 12 (CXCL12) plays a critical role in regulating hematopoietic stem cell activation and subsequent cellular mobilization. Extensive studies of these genes have been conducted in mammals, but much less is known about the expression and function of CXCR4 and CXCL12 in non-mammalian vertebrates. In the present study, we identify simultaneous expression of CXCR4 and CXCL12 orthologs in the epigonal organ (the primary hematopoietic tissue) of the little skate, Leucoraja erinacea. Genetic and phylogenetic analyses were functionally supported by significant mobilization of leukocytes following administration of Plerixafor, a CXCR4 antagonist and clinically important drug. Our results provide evidence that, as in humans, Plerixafor disrupts CXCR4/CXCL12 binding in the little skate, facilitating release of leukocytes into the bloodstream. Our study illustrates the value of the little skate as a model organism, particularly in studies of hematopoiesis and potentially for preclinical research on hematological and vascular disorders.

Abstract

The multilingual brain implements mechanisms that serve to select the appropriate language as a function of the communicative environment. Engaging these mechanisms on a regular basis appears to have consequences for brain structure and function. Studies have implicated the caudate nuclei as important nodes in polyglot language control processes, and have also shown structural differences in the caudate nuclei in bilingual compared to monolingual populations. However, the majority of published work has focused on the categorical differences between monolingual and bilingual individuals, and little is known about whether these findings extend to multilingual individuals, who have even greater language control demands. In the present paper, we present an analysis of the volume and morphology of the caudate nuclei, putamen, pallidum and thalami in 75 multilingual individuals who speak three or more languages. Volumetric analyses revealed a significant relationship between multilingual experience and right caudate volume, as well as a marginally significant relationship with left caudate volume. Vertex-wise analyses revealed a significant enlargement of dorsal and anterior portions of the left caudate nucleus, known to have connectivity with executive brain regions, as a function of multilingual expertise. These results suggest that multilingual expertise might exercise a continuous impact on brain structure, and that as additional languages beyond a second are acquired, the additional demands for linguistic and cognitive control result in modifications to brain structures associated with language management processes.