Publications

Abstract

Migraine is a common episodic brain disorder characterized by recurrent attacks of severe unilateral headache and additional neurological symptoms. Two main migraine types can be distinguished based on the presence of aura symptoms that can accompany the headache: migraine with aura and migraine without aura. Multiple genetic and environmental factors confer disease susceptibility. Recent genome-wide association studies (GWAS) indicate that migraine susceptibility genes are involved in various pathways, including neurotransmission, which have already been implicated in genetic studies of monogenic familial hemiplegic migraine, a subtype of migraine with aura. Methods To further explore the genetic background of migraine, we performed a gene set analysis of migraine GWAS data of 4954 clinic-based patients with migraine, as well as 13,390 controls. Curated sets of synaptic genes and sets of genes predominantly expressed in three glial cell types (astrocytes, microglia and oligodendrocytes) were investigated. Discussion Our results show that gene sets containing astrocyte- and oligodendrocyte-related genes are associated with migraine, which is especially true for gene sets involved in protein modification and signal transduction. Observed differences between migraine with aura and migraine without aura indicate that both migraine types, at least in part, seem to have a different genetic background.

Abstract

Purpose of review: Migraine is a prevalent neurovascular brain disorder with a strong genetic component, and different methodological approaches have been implemented to identify the genes involved. This review focuses on pearls and pitfalls of these approaches and genetic findings in migraine. Summary: Common forms of migraine (i.e. migraine with and without aura) are thought to have a polygenic make-up, whereas rare familial hemiplegic migraine (FHM) presents with a monogenic pattern of inheritance. Until a few years ago only studies in FHM yielded causal genes, which were identified by a classical linkage analysis approach. Functional analyses of FHM gene mutations in cellular and transgenic animal models suggest abnormal glutamatergic neurotransmission as a possible key disease mechanism. Recently, a number of genes were discovered for the common forms of migraine using a genome-wide association (GWA) approach, which sheds first light on the pathophysiological mechanisms involved. Conclusions: Novel technological strategies such as next-generation sequencing, which can be implemented in future genetic migraine research, may aid the identification of novel FHM genes and promote the search for the missing heritability of common migraine.

Abstract

The perception of speech sounds can be re-tuned rapidly through a mechanism of lexically-driven learning (Norris et al 2003, Cogn.Psych. 47). Here we investigated this type of learning for English voiced stop consonants which are commonly de-voiced in word final position by Dutch learners of English . Specifically, this study asked under which conditions the change in pre-lexical representation encodes phonological information about the position of the critical sound within a word. After exposure to a Dutch learner’s productions of de-voiced stops in word-final position (but not in any other positions), British English listeners showed evidence of perceptual learning in a subsequent cross-modal priming task, where auditory primes with voiceless final stops (e.g., ‘seat’), facilitated recognition of visual targets with voiced final stops (e.g., SEED). This learning generalized to test pairs where the critical contrast was in word-initial position, e.g. auditory primes such as ‘town’ facilitated recognition of visual targets like DOWN (Experiment 1). Control listeners, who had not heard any stops by the speaker during exposure, showed no learning effects. The generalization to word-initial position did not occur when participants had also heard correctly voiced, word-initial stops during exposure (Experiment 2), and when the speaker was a native BE speaker who mimicked the word-final devoicing (Experiment 3). These results suggest that word position can be encoded in the pre-lexical adjustment to the accented phoneme contrast. Lexcially-guided feedback, distributional properties of the input, and long-term representations of accents all appear to modulate the pre-lexical re-tuning of phoneme categories.

Abstract

It has been proposed that two amino acid substitutions in the transcription factor FOXP2 have been positively selected during human evolution due to effects on aspects of speech and language. Here, we introduce these substitutions into the endogenous Foxp2 gene of mice. Although these mice are generally healthy, they have qualitatively different ultrasonic vocalizations, decreased exploratory behavior and decreased dopamine concentrations in the brain suggesting that the humanized Foxp2 allele affects basal ganglia. In the striatum, a part of the basal ganglia affected in humans with a speech deficit due to a nonfunctional FOXP2 allele, we find that medium spiny neurons have increased dendrite lengths and increased synaptic plasticity. Since mice carrying one nonfunctional Foxp2 allele show opposite effects, this suggests that alterations in cortico-basal ganglia circuits might have been important for the evolution of speech and language in humans.

Abstract

Language is a uniquely human trait likely to have been a prerequisite for the development of human culture. The ability to develop articulate speech relies on capabilities, such as fine control of the larynx and mouth, that are absent in chimpanzees and other great apes. FOXP2 is the first gene relevant to the human ability to develop language. A point mutation in FOXP2 co-segregates with a disorder in a family in which half of the members have severe articulation difficulties accompanied by linguistic and grammatical impairment. This gene is disrupted by translocation in an unrelated individual who has a similar disorder. Thus, two functional copies of FOXP2 seem to be required for acquisition of normal spoken language. We sequenced the complementary DNAs that encode the FOXP2 protein in the chimpanzee, gorilla, orang-utan, rhesus macaque and mouse, and compared them with the human cDNA. We also investigated intraspecific variation of the human FOXP2 gene. Here we show that human FOXP2 contains changes in amino-acid coding and a pattern of nucleotide polymorphism, which strongly suggest that this gene has been the target of selection during recent human evolution.

Abstract

Investigation of the emotions entails reference to words and expressions conventionally used for the description of emotion experience. Important methodological issues arise for emotion researchers, and the issues are of similarly central concern in linguistic semantics more generally. I argue that superficial and/or inconsistent description of linguistic meaning can have seriously misleading results. This paper is firstly a critique of standards in emotion research for its tendency to underrate and ill-understand linguistic semantics. It is secondly a critique of standards in some approaches to linguistic semantics itself. Two major problems occur. The first is failure to distinguish between conceptually distinct meanings of single words, neglecting the well-established fact that a single phonological string can signify more than one conceptual category (i.e., that words can be polysemous). The second error involves failure to distinguish between two kinds of secondary uses of words: (1) those which are truly active “online” extensions, and (2) those which are conventionalised secondary meanings and not active (qua “extensions”) at all. These semantic considerations are crucial to conclusions one may draw about cognition and conceptualisation based on linguistic evidence.

Abstract

Reviewed work(s): Dying Words: Endangered Languages and What They Have to Tell Us. By Nicholas Evans. Indianapolis: Wiley-Blackwell, 2010. On the Death and Life of Languages. By Claude Hagège, translated by Jody Gladding. New Haven, CT: Yale University Press, 2009.

Abstract

This article argues that it is not possible to establish distinctions between 'Lao', 'Thai', and 'Isan' as seperate languages or dialects by appealing to objective criteria. 'Lao', 'Thai', and 'Isan' are conceived linguistics varieties, and the ground-level reality reveals a great deal of variation, much of it not coinciding with the geographical boundaries of the 'Laos', 'Isan', and 'non-Isan Thailand' areas. Those who promote 'Lao', 'Thai', and/or 'Isan' as distinct linguistic varieties have subjective (e.g. political and/or sentimental) reasons for doing so. Objective linguistic criteria are not sufficient

Abstract

Anthropologists and linguists have long been aware that the body is explicitly referred to in conventional description of emotion in languages around the world. There is abundant linguistic data showing expression of emotions in terms of their imagined ‘locus’ in the physical body. The most important methodological issue in the study of emotions is language, for the ways people talk give us access to ‘folk descriptions’ of the emotions. ‘Technical terminology’, whether based on English or otherwise, is not excluded from this ‘folk’ status. It may appear to be safely ‘scientific’ and thus culturally neutral, but in fact it is not: technical English is a variety of English and reflects, to some extent, culture-specific ways of thinking (and categorising) associated with the English language. People — as researchers studying other people, or as people in real-life social association — cannot directly access the emotional experience of others, and language is the usual mode of ‘packaging’ one’s experience so it may be accessible to others. Careful description of linguistic data from as broad as possible a cross-linguistic base is thus an important part of emotion research. All people experience biological events and processes associated with certain thoughts (or, as psychologists say, ‘appraisals’), but there is more to ‘emotion’ than just these physiological phenomena. Speakers of some languages talk about their emotional experiences as if they are located in some internal organ such as ‘the liver’, yet they cannot localise feeling in this physical organ. This phenomenon needs to be understood better, and one of the problems is finding a method of comparison that allows us to compare descriptions from different languages which show apparently great formal and semantic variation. Some simple concepts including feel and body are universal or near-universal, and as such are good candidates for terms of description which may help to eradicate confusion and exoticism from cross-linguistic comparison and semantic typology. Semantic analysis reveals great variation in concepts of emotion across languages and cultures — but such analysis requires a sound and well-founded methodology. While leaving room for different approaches to the task, we suggest that such a methodology can be based on empirically established linguistic universal (or near-universal) concepts, and on ‘cognitive scenarios’ articulated in terms of these concepts. Also, we warn against the danger of exoticism involved in taking all body part references ‘literally’. Above all, we argue that what is needed is a combination of empirical cross-linguistic investigations and a theoretical and methodological awareness, recognising the impossibility of exploring other people’s emotions without keeping language in focus: both as an object and as a tool of study.

Abstract

The study of language in relation to anthropological questions has deep and varied roots, from Humboldt and Boas, Malinowski and Vygotsky, Sapir and Whorf, Wittgenstein and Austin, through to the linguistic anthropologists of now. A recent book by the linguist Daniel Everett, language: the cultural tool (2012), aims to bring some of the issues to a popular audience, with a focus on the idea that language is a tool for social action. I argue in this essay that the book does not represent the state of the art in this field, falling short on three central desiderata of a good account for the social functions of language and its relation to culture. I frame these desiderata in terms of three questions, here termed the cognition question, the causality question, and the culture question. I look at the relevance of this work for socio-cultural anthropology, in the context of a major interdisciplinary pendulum swing that is incipient in the study of language today, a swing away from formalist, innatist perspectives, and towards functionalist, empiricist perspectives. The role of human diversity and culture is foregrounded in all of this work. To that extent, Everett’s book is representative, but the quality of his argument is neither strong in itself nor representative of a movement that ought to be of special interest to socio-cultural anthropologists.

Abstract

The approach to pragmatics explored in this article focuses on elements of social interaction which are of universal relevance, and which may provide bases for a comparative approach. The discussion is anchored by reference to a fragment of conversation from a video-recording of Lao speakers during a home visit in rural Laos. The following points are discussed. First, an understanding of the full richness of context is indispensable for a proper understanding of any interaction. Second, human relationships are a primary locus of social organization, and as such constitute a key focus for pragmatics. Third, human social intelligence forms a universal cognitive under-carriage for interaction, and requires careful cross-cultural study. Fourth, a neo-Peircean framework for a general understanding of semiotic processes gives us a way of stepping away from language as our basic analytical frame. It is argued that in order to get a grip on pragmatics across human groups, we need to take a comparative approach in the biological sense—i.e. with reference to other species as well. From this perspective, human pragmatics is about using semiotic resources to try to meet goals in the realm of social relationships.

Abstract

This article examines vocabulary for taste and flavor in two neighboring but unrelated languages (Lao and Kri) spoken in Laos, Southeast Asia. There are very close similarities in underlying semantic distinctions made in the taste/flavor domain in these two languages, not just in the set of basic tastes distinguished (sweet, salty, bitter, sour, umami or glutamate), but in a series of further basic terms for flavors, specifying texture and other sensations in the mouth apart from pure taste (e.g. starchy, dry in the mouth, minty, tingly, spicy). After presenting sets of taste/flavor vocabulary in the two languages and showing their high degree of convergence, the article discusses some methodological and theoretical issues that arise from the observation of close convergence in semantic structure across languages, in particular the issue of how much inter-speaker variation is possible not only across apparently highly convergent systems, but also within languages. The final section raises possible causes for the close convergence of semantic structure in the two languages. The conclusion is that the likely cause of this convergence is historical social contact between speech communities in the area, although the precise mode of influence (e.g. direction of transmission) is unknown.

Abstract

Review of the books "Virtually you. The dangerous powers of the e-personality", by Elias Aboujaoude; "The big disconnect. The story of technology and loneliness", by Giles Slade; and "Net smart. How to thrive online", by Howard Rheingold.

Abstract

Listeners show a remarkable ability to quickly adjust to degraded speech input. Here, we aimed to identify the neural mechanisms of such short-term perceptual adaptation. In a sparse-sampling, cardiac-gated functional magnetic resonance imaging (fMRI) acquisition, human listeners heard and repeated back 4-band-vocoded sentences (in which the temporal envelope of the acoustic signal is preserved, while spectral information is highly degraded). Clear-speech trials were included as baseline. An additional fMRI experiment on amplitude modulation rate discrimination quantified the convergence of neural mechanisms that subserve coping with challenging listening conditions for speech and non-speech. First, the degraded speech task revealed an “executive” network (comprising the anterior insula and anterior cingulate cortex), parts of which were also activated in the non-speech discrimination task. Second, trial-by-trial fluctuations in successful comprehension of degraded speech drove hemodynamic signal change in classic “language” areas (bilateral temporal cortices). Third, as listeners perceptually adapted to degraded speech, downregulation in a cortico-striato-thalamo-cortical circuit was observable. The present data highlight differential upregulation and downregulation in auditory–language and executive networks, respectively, with important subcortical contributions when successfully adapting to a challenging listening situation.

Abstract

This article addresses the recognition of reduced word forms, which are frequent in casual speech. We describe two experiments on Dutch showing that listeners only recognize highly reduced forms well when these forms are presented in their full context and that the probability that a listener recognizes a word form in limited context is strongly correlated with the degree of reduction of the form. Moreover, we show that the effect of degree of reduction can only partly be interpreted as the effect of the intelligibility of the acoustic signal, which is negatively correlated with degree of reduction. We discuss the consequences of our findings for models of spoken word recognition and especially for the role that storage plays in these models.

Abstract

Words are often pronounced very differently in formal speech than in everyday conversations. In conversational speech, they may contain weaker segments, fewer sounds, and even fewer syllables. The English word yesterday, for instance, may be pronounced as [j epsilon integral eI]. This article forms an introduction to the phenomenon of reduced pronunciation variants and to the eight research articles in this issue on the characteristics, production, and comprehension of these variants. We provide a description of the phenomenon, addressing its high frequency of occurrence in casual conversations in various languages, the gradient nature of many reduction processes, and the intelligibility of reduced variants to native listeners. We also describe the relevance of research on reduced variants for linguistic and psychological theories as well as for applications in speech technology and foreign language acquisition. Since reduced variants occur more often in spontaneous than in formal speech, they are hard to study in the laboratory under well controlled conditions. We discuss the advantages and disadvantages of possible solutions, including the research methods employed in the articles in this special issue, based on corpora and experiments. This article ends with a short overview of the articles in this issue.

Abstract

This paper discusses four experiments on Dutch which show that distinctive phonological features differ in their relevance for word recognition. The relevance of a feature for word recognition depends on its phonological stability, that is, the extent to which that feature is generally realized in accordance with its lexical specification in the relevant word position. If one feature value is uninformative, all values of that feature are less relevant for word recognition, with the least informative feature being the least relevant. Features differ in their relevance both in spoken and written word recognition, though the differences are more pronounced in auditory lexical decision than in self-paced reading.

Abstract

This study addresses the question to what extent the production of regular past tense forms in Dutch is a¤ected by analogical processes. We report an experiment in which native speakers of Dutch listened to existing regular verbs over headphones, and had to indicate which of the past tense allomorphs, te or de, was appropriate for these verbs. According to generative analyses, the choice between the two su‰xes is completely regular and governed by the underlying [voice]-specification of the stem-final segment. In this approach, no analogical e¤ects are expected. In connectionist and analogical approaches, by contrast, the phonological similarity structure in the lexicon is expected to a¤ect lexical processing. Our experimental results support the latter approach: all participants created more nonstandard past tense forms, produced more inconsistency errors, and responded more slowly for verbs with stronger analogical support for the nonstandard form.

Abstract

Amsterdam klinkt in informele gesprekken vaak als Amsdam en Rotterdam als Rodam, zonder dat de meeste moedertaalsprekers zich daar bewust van zijn. In alledaagse situaties valt een aanzienlijk deel van de klanken weg. Daarnaast worden veel klanken zwakker gearticuleerd (bijvoorbeeld een d als een j, als de mond niet helemaal afgesloten wordt). Het lijkt waarschijnlijk dat deze half uitgesproken woorden een probleem vormen voor tweedetaalleerders. Gereduceerde vormen kunnen immers sterk afwijken van de vormen die deze leerders geleerd hebben. Of dit werkelijk zo is, hebben de auteurs onderzocht in twee studies. Voordat ze deze twee studies bespreken, vertellen ze eerst kort iets over de verschillende typen reducties die voorkomen.

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

Mutations affecting the transcription factor FOXP2 cause a rare form of severe speech and language disorder. Although it is clear that sufficient FOXP2 expression is crucial for normal brain development, little is known about how this transcription factor is regulated. To investigate post-translational mechanisms for FOXP2 regulation, we searched for protein interaction partners of FOXP2, and identified members of the PIAS family as novel FOXP2 interactors. PIAS proteins mediate post-translational modification of a range of target proteins with small ubiquitin-like modifiers (SUMOs). We found that FOXP2 can be modified with all three human SUMO proteins and that PIAS1 promotes this process. An aetiological FOXP2 mutation found in a family with speech and language disorder markedly reduced FOXP2 SUMOylation. We demonstrate that FOXP2 is SUMOylated at a single major site, which is conserved in all FOXP2 vertebrate orthologues and in the paralogues FOXP1 and FOXP4. Abolishing this site did not lead to detectable changes in FOXP2 subcellular localization, stability, dimerization or transcriptional repression in cellular assays, but the conservation of this site suggests a potential role for SUMOylation in regulating FOXP2 activity in vivo.

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

Talk of linguistic universals has given cognitive scientists the impression that languages are all built to a common pattern. In fact, there are vanishingly few universals of language in the direct sense that all languages exhibit them. Instead, diversity can be found at almost every level of linguistic organization. This fundamentally changes the object of enquiry from a cognitive science perspective. This target article summarizes decades of cross-linguistic work by typologists and descriptive linguists, showing just how few and unprofound the universal characteristics of language are, once we honestly confront the diversity offered to us by the world's 6,000 to 8,000 languages. After surveying the various uses of “universal,” we illustrate the ways languages vary radically in sound, meaning, and syntactic organization, and then we examine in more detail the core grammatical machinery of recursion, constituency, and grammatical relations. Although there are significant recurrent patterns in organization, these are better explained as stable engineering solutions satisfying multiple design constraints, reflecting both cultural-historical factors and the constraints of human cognition.

Abstract

Our response takes advantage of the wide-ranging commentary to clarify some aspects of our original proposal and augment others. We argue against the generative critics of our coevolutionary program for the language sciences, defend the use of close-to-surface models as minimizing crosslinguistic data distortion, and stress the growing role of stochastic simulations in making generalized historical accounts testable. These methods lead the search for general principles away from idealized representations and towards selective processes. Putting cultural evolution central in understanding language diversity makes learning fundamental in the cognition of language: increasingly powerful models of general learning, paired with channelled caregiver input, seem set to manage language acquisition without recourse to any innate “universal grammar.” Understanding why human language has no clear parallels in the animal world requires a cross-species perspective: crucial ingredients are vocal learning (for which there are clear non-primate parallels) and an intentionattributing cognitive infrastructure that provides a universal base for language evolution. We conclude by situating linguistic diversity within a broader trend towards understanding human cognition through the study of variation in, for example, human genetics, neurocognition, and psycholinguistic processing.

Abstract

Childhood adversity (CA) has been associated with long-term structural brain alterations and an increased risk for psychiatric disorders. Evidence is emerging that subtypes of CA, varying in the dimensions of threat and deprivation, lead to distinct neural and behavioral outcomes. However, these specific associations have yet to be established without potential confounders such as psychopathology. Moreover, differences in neural development and psychopathology necessitate the exploration of sexual dimorphism. Young healthy adult subjects were selected based on history of CA from a large database to assess gray matter (GM) differences associated with specific subtypes of adversity. We compared voxel-based morphometry data of subjects reporting specific childhood exposure to abuse (n = 127) or deprivation (n = 126) and a similar sized group of controls (n = 129) without reported CA. Subjects were matched on age, gender, and educational level. Differences between CA subtypes were found in the fusiform gyrus and middle occipital gyms, where subjects with a history of deprivation showed reduced GM compared with subjects with a history of abuse. An interaction between sex and CA subtype was found. Women showed less GM in the visual posterior precuneal region after both subtypes of CA than controls. Men had less GM in the postcentral gyms after childhood deprivation compared with abuse. Our results suggest that even in a healthy population, CA subtypes are related to specific alterations in brain structure, which are modulated by sex. These findings may help understand neurodevelopmental consequences related to CA

Abstract

Daniel Everett has spent his career in the Amazon, challenging some fundamental ideas about language and thought. Asifa Majid and Jon Sutton pose the questions

Abstract

We make the case that, contra standard assumption in linguistic theory, the sound systems of human languages are adapted to their environment. While not conclusive, this plausible case rests on several points discussed in this work: First, human behavior is generally adaptive and the assumption that this characteristic does not extend to linguistic structure is empirically unsubstantiated. Second, animal communication systems are well known to be adaptive within species across a variety of phyla and taxa. Third, research in laryngology demonstrates clearly that ambient desiccation impacts the performance of the human vocal cords. The latter point motivates a clear, testable hypothesis with respect to the synchronic global distribution of language types. Fourth, this hypothesis is supported in our own previous work, and here we discuss new approaches being developed to further explore the hypothesis. We conclude by suggesting that the time has come to more substantively examine the possibility that linguistic sound systems are adapted to their physical ecology

Abstract

We begin by thanking the respondents for their thoughtful comments and insightful leads. The overall impression we are left with by this exchange is one of progress, even if no consensus remains about the particular hypothesis we raise. To date, there has been a failure to seriously engage with the possibility that humans might adapt their communication to ecological factors. In these exchanges, we see signs of serious engagement with that possibility. Most respondents expressed agreement with the notion that our central premise—that language is ecologically adaptive—requires further exploration and may in fact be operative. We are pleased to see this shift in discourse, and to witness a heightening appreciation of possible ecological constraints on language evolution. It is that shift in discourse that represents progress in our view. Our hope is that future work will continue to explore these issues, paying careful attention to the fact that the human larynx is clearly sensitive to characteristics of ambient air. More generally, we think this exchange is indicative of the growing realization that inquiries into language development must consider potential external factors (see Dediu 2015)...

Abstract

Myopia, currently at epidemic levels in East Asia, is a leading cause of untreatable visual impairment. Genome-wide association studies (GWAS) in adults have identified 39 loci associated with refractive error and myopia. Here, the age-of-onset of association between genetic variants at these 39 loci and refractive error was investigated in 5200 children assessed longitudinally across ages 7-15 years, along with gene-environment interactions involving the major environmental risk-factors, nearwork and time outdoors. Specific variants could be categorized as showing evidence of: (a) early-onset effects remaining stable through childhood, (b) early-onset effects that progressed further with increasing age, or (c) onset later in childhood (N = 10, 5 and 11 variants, respectively). A genetic risk score (GRS) for all 39 variants explained 0.6% (P = 6.6E-08) and 2.3% (P = 6.9E-21) of the variance in refractive error at ages 7 and 15, respectively, supporting increased effects from these genetic variants at older ages. Replication in multi-ancestry samples (combined N = 5599) yielded evidence of childhood onset for 6 of 12 variants present in both Asians and Europeans. There was no indication that variant or GRS effects altered depending on time outdoors, however 5 variants showed nominal evidence of interactions with nearwork (top variant, rs7829127 in ZMAT4; P = 6.3E-04).

Abstract

Myopia is the most common human eye disorder and it results from complex genetic and environmental causes. The rapidly increasing prevalence of myopia poses a major public health challenge. Here, the CREAM consortium performs a joint meta-analysis to test single-nucleotide polymorphism (SNP) main effects and SNP × education interaction effects on refractive error in 40,036 adults from 25 studies of European ancestry and 10,315 adults from 9 studies of Asian ancestry. In European ancestry individuals, we identify six novel loci (FAM150B-ACP1, LINC00340, FBN1, DIS3L-MAP2K1, ARID2-SNAT1 and SLC14A2) associated with refractive error. In Asian populations, three genome-wide significant loci AREG, GABRR1 and PDE10A also exhibit strong interactions with education (P<8.5 × 10−5), whereas the interactions are less evident in Europeans. The discovery of these loci represents an important advance in understanding how gene and environment interactions contribute to the heterogeneity of myopia

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

Individuals with heterozygous 16p11.2 deletions reportedly suffer from a variety of difficulties with speech and language. Indeed, recent copy-number variant screens of children with childhood apraxia of speech (CAS), a specific and rare motor speech disorder, have identified three unrelated individuals with 16p11.2 deletions. However, the nature and prevalence of speech and language disorders in general, and CAS in particular, is unknown for individuals with 16p11.2 deletions. Here we took a genotype-first approach, conducting detailed and systematic characterization of speech abilities in a group of 11 unrelated children ascertained on the basis of 16p11.2 deletions. To obtain the most precise and replicable phenotyping, we included tasks that are highly diagnostic for CAS, and we tested children under the age of 18 years, an age group where CAS has been best characterized. Two individuals were largely nonverbal, preventing detailed speech analysis, whereas the remaining nine met the standard accepted diagnostic criteria for CAS. These results link 16p11.2 deletions to a highly penetrant form of CAS. Our findings underline the need for further precise characterization of speech and language profiles in larger groups of affected individuals, which will also enhance our understanding of how genetic pathways contribute to human communication disorders.

Abstract

In this study, we investigate whether language and music share cognitive resources for structural processing. We report an experiment that used sung materials and manipulated linguistic complexity (subject-extracted relative clauses, object-extracted relative clauses) and musical complexity (in-key critical note, out-of-key critical note, auditory anomaly on the critical note involving a loudness increase). The auditory-anomaly manipulation was included in order to test whether the difference between in-key and out-of-key conditions might be due to any salient, unexpected acoustic event. The critical dependent measure involved comprehension accuracies to questions about the propositional content of the sentences asked at the end of each trial. The results revealed an interaction between linguistic and musical complexity such that the difference between the subject- and object-extracted relative clause conditions was larger in the out-of-key condition than in the in-key and auditory-anomaly conditions. These results provide evidence for an overlap in structural processing between language and music.

Abstract

Langerin mediates the carbohydrate-dependent uptake of pathogens by Langerhans cells in the first step of antigen presentation to the adaptive immune system. Langerin binds to an unusually diverse number of endogenous and pathogenic cell surface carbohydrates, including mannose-containing O-specific polysaccharides derived from bacterial lipopolysaccharides identified here by probing a microarray of bacterial polysaccharides. Crystal structures of the carbohydrate-recognition domain from human langerin bound to a series of oligomannose compounds, the blood group B antigen, and a fragment of β-glucan reveal binding to mannose, fucose, and glucose residues by Ca(2+) coordination of vicinal hydroxyl groups with similar stereochemistry. Oligomannose compounds bind through a single mannose residue, with no other mannose residues contacting the protein directly. There is no evidence for a second Ca(2+)-independent binding site. Likewise, a β-glucan fragment, Glcβ1-3Glcβ1-3Glc, binds to langerin through the interaction of a single glucose residue with the Ca(2+) site. The fucose moiety of the blood group B trisaccharide Galα1-3(Fucα1-2)Gal also binds to the Ca(2+) site, and selective binding to this glycan compared to other fucose-containing oligosaccharides results from additional favorable interactions of the nonreducing terminal galactose, as well as of the fucose residue. Surprisingly, the equatorial 3-OH group and the axial 4-OH group of the galactose residue in 6SO(4)-Galβ1-4GlcNAc also coordinate Ca(2+), a heretofore unobserved mode of galactose binding in a C-type carbohydrate-recognition domain bearing the Glu-Pro-Asn signature motif characteristic of mannose binding sites. Salt bridges between the sulfate group and two lysine residues appear to compensate for the nonoptimal binding of galactose at this site.

Abstract

A long-standing debate in cognitive neurosciences concerns the effect of music on verbal learning and memory. Research in this field has largely provided conflicting results in both clinical as well as non-clinical populations. Although several studies have shown a positive effect of music on the encoding and retrieval of verbal stimuli, music has also been suggested to hinder mnemonic performance by dividing attention. In an attempt to explain this conflict, we review the most relevant literature on the effects of music on verbal learning and memory. Furthermore, we specify several mechanisms through which music may modulate these cognitive functions. We suggest that the extent to which music boosts these cognitive functions relies on experimental factors, such as the relative complexity of musical and verbal stimuli employed. These factors should be carefully considered in further studies, in order to reliably establish how and when music boosts verbal memory and learning. The answers to these questions are not only crucial for our knowledge of how music influences cognitive and brain functions, but may have important clinical implications. Considering the increasing number of approaches using music as a therapeutic tool, the importance of understanding exactly how music works can no longer be underestimated.

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

Across a wide range of animal taxa, prosodic modulation of the voice can express emotional information and is used to coordinate vocal interactions between multiple individuals. Within a comparative approach to animal communication systems, I hypothesize that the ability for emotional and interactional prosody (EIP) paved the way for the evolution of linguistic prosody – and perhaps also of music, continuing to play a vital role in the acquisition of language. In support of this hypothesis, I review three research fields: (i) empirical studies on the adaptive value of EIP in non-human primates, mammals, songbirds, anurans, and insects; (ii) the beneficial effects of EIP in scaffolding language learning and social development in human infants; (iii) the cognitive relationship between linguistic prosody and the ability for music, which has often been identified as the evolutionary precursor of language.

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

Temporal regularities in speech, such as interdependencies in the timing of speech events, are thought to scaffold early acquisition of the building blocks in speech. By providing on-line clues to the location and duration of upcoming syllables, temporal structure may aid segmentation and clustering of continuous speech into separable units. This hypothesis tacitly assumes that learners exploit predictability in the temporal structure of speech. Existing measures of speech timing tend to focus on first-order regularities among adjacent units, and are overly sensitive to idiosyncrasies in the data they describe. Here, we compare several statistical methods on a sample of 18 languages, testing whether syllable occurrence is predictable over time. Rather than looking for differences between languages, we aim to find across languages (using clearly defined acoustic, rather than orthographic, measures), temporal predictability in the speech signal which could be exploited by a language learner. First, we analyse distributional regularities using two novel techniques: a Bayesian ideal learner analysis, and a simple distributional measure. Second, we model higher-order temporal structure—regularities arising in an ordered series of syllable timings—testing the hypothesis that non-adjacent temporal structures may explain the gap between subjectively-perceived temporal regularities, and the absence of universally-accepted lower-order objective measures. Together, our analyses provide limited evidence for predictability at different time scales, though higher-order predictability is difficult to reliably infer. We conclude that temporal predictability in speech may well arise from a combination of individually weak perceptual cues at multiple structural levels, but is challenging to pinpoint.

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

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

Rare mutations of the FOXP2 transcription factor gene cause a monogenic syndrome characterized by impaired speech development and linguistic deficits. Recent genomic investigations indicate that its downstream neural targets make broader impacts on common language impairments, bridging clinically distinct disorders. Moreover, the striking conservation of both FoxP2 sequence and neural expression in different vertebrates facilitates the use of animal models to study ancestral pathways that have been recruited towards human speech and language. Intriguingly, reduced FoxP2 dosage yields abnormal synaptic plasticity and impaired motor-skill learning in mice, and disrupts vocal learning in songbirds. Converging data indicate that Foxp2 is important for modulating the plasticity of relevant neural circuits. This body of research represents the first functional genetic forays into neural mechanisms contributing to human spoken language.

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

Between 2 and 5% of children who are otherwise unimpaired have significant difficulties in acquiring expressive and/or receptive language, despite adequate intelligence and opportunity. While twin studies indicate a significant role for genetic factors in developmental disorders of speech and language, the majority of families segregating such disorders show complex patterns of inheritance, and are thus not amenable for conventional linkage analysis. A rare exception is the KE family, a large three-generation pedigree in which approximately half of the members are affected with a severe speech and language disorder which appears to be transmitted as an autosomal dominant monogenic trait. This family has been widely publicised as suffering primarily from a defect in the use of grammatical suffixation rules, thus supposedly supporting the existence of genes specific to grammar. The phenotype, however, is broader in nature, with virtually every aspect of grammar and of language affected. In addition, affected members have a severe orofacial dyspraxia, and their speech is largely incomprehensible to the naive listener. We initiated a genome-wide search for linkage in the KE family and have identified a region on chromosome 7 which co-segregates with the speech and language disorder (maximum lod score = 6.62 at theta = 0.0), confirming autosomal dominant inheritance with full penetrance. Further analysis of microsatellites from within the region enabled us to fine map the locus responsible (designated SPCH1) to a 5.6-cM interval in 7q31, thus providing an important step towards its identification. Isolation of SPCH1 may offer the first insight into the molecular genetics of the developmental process that culminates in speech and language.

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

Systematic investigations into the role of semantics in the speech production process have remained elusive. This special issue aims at moving forward toward a more detailed account of how precisely conceptual information is used to access the lexicon in speaking and what corresponding format of conceptual representations needs to be assumed. The studies presented in this volume investigated effects of conceptual processing on different processing stages of language production, including sentence formulation, lemma selection, and word form access.

Abstract

The present study addresses questions concerning bilinguals’ attainment in the two languages by investigating the extent to which early bilinguals manage to apply the information structure required in each language when producing a complex text. In re-narrating the content of a film, speakers have to break down the perceived series of dynamic situations and structure relevant information into units that are suited for linguistic expression. The analysis builds on typological studies of Germanic and Romance languages which investigate the role of grammaticized concepts in determining core features in information structure. It takes a global perspective in that it focuses on factors that determine information selection and information structure that hold in macrostructural terms for the text as a whole (factors driving information selection, the temporal frame used to locate events on the time line, and the means used in reference management). A first comparison focuses on Dutch and German monolingual native speakers and shows that despite overall typological similarities, there are subtle though systematic differences between the two languages in the aforementioned areas of information structure. The analyses of the bilinguals focus on their narratives in both languages, and compares the patterns found to those found in the monolingual narratives. Findings show that the method used provides insights into the individual bilingual’s attainment in the two languages and identifies either balanced levels of attainment, patterns showing higher degrees of conformity with one of the languages, as well as bilingual-specific patterns of performance.

Abstract

This experimental study investigates event construal by early Dutch–German bilinguals, as reflected in their oral depiction of everyday events shown in video clips. The starting point is the finding that the expression of an aspectual perspective (progressive aspect), and its consequences for event construal, is dependent on the extent to which means are grammaticalized, as in English (e.g., progressive aspect) or not, as in German (von Stutterheim & Carroll, 2006). The present study shows that although speakers of Dutch and German have comparable means to mark this aspectual concept, at a first glance at least, they differ markedly both in the contexts as well as in the extent to which this aspectual perspective is selected, being highly frequent in specific contexts in Dutch, but not in German. The present experimental study investigates factors that lead to the use of progressive aspect by early bilinguals, using video clips (with different types of events varied along specific dimensions on a systematic basis). The study includes recordings of eye movements, and examines how far an aspectual perspective drives allocation of attention during information intake while viewing the stimulus material, both for and while speaking. Although the bilinguals have acquired the means to express progressive aspect in Dutch, their use shows a pattern that differs from monolingual Dutch speakers. Interestingly, these differences are reflected in different patterns in the direction of attention (eye movements) when verbalizing information on events.

Abstract

This paper focuses on native speaker judgments of a construction in Dutch that functions as a progressive aspectual marker (aan het X zijn, referred to as aan het-construction) and represents an event as in progression at the time of speech. The method was chosen in order to investigate how native speakers assess the scope and conditions of use of a construction which is in the process of grammaticalization. It allows for the inclusion of a large group of participants of different age groups and an investigation of potential age-related differences. The study systematically covers a range of temporal variables that were shown to be relevant in elicitation and corpus-based studies on the grammaticalization of progressive aspect constructions. The results provide insights into the selectional preferences and constraints of the aan het-construction in contemporary Dutch, as judged by native speakers, and the extent to which they correlate with production tasks.

Abstract

From the study of sign languages we know that the visual modality robustly supports the encoding of conventionalized linguistic elements, yet while the same possibility exists for the visual bodily behavior of speakers of spoken languages, such practices are often referred to as ‘gestural’ and are not usually described in linguistic terms. This article describes a practice of speakers of the Brazilian indigenous language Nheengatú of pointing to positions along the east-west axis of the sun’s arc for time-of-day reference, and illustrates how it satisfies any of the common criteria for linguistic elements, as a system of standardized and productive form-meaning pairings whose contributions to propositional meaning remain stable across contexts. First, examples from a video corpus of natural speech demonstrate these conventionalized properties of Nheengatú time reference across multiple speakers. Second, a series of video-based elicitation stimuli test several dimensions of its conventionalization for nine participants. The results illustrate why modality is not an a priori reason that linguistic properties cannot develop in the visual practices that accompany spoken language. The conclusion discusses different possible morphosyntactic and pragmatic analyses for such conventionalized visual elements and asks whether they might be more crosslinguistically common than we presently know.

Abstract

This article describes the adjective class in Quechua, countering many previous accounts of the language as a linguistic type with no adjective/noun distinction. It applies a set of common crosslinguistic criteria for distinguishing adjectives to data from several dialects of Ecuadorian Highland Quechua (EHQ), analyzing examples from a natural speech audio/video corpus, speaker intuitions of grammaticality, and controlled elicitation exercises. It is concluded that by virtually any standard Quechua shows clear evidence for a distinct class of attributive noun modifiers, and that in the future Quechua should not be considered a “flexible” noun/adjective language for the purposes of crosslinguistic comparison.

Abstract

This article expands the study of other-initiated repair in conversation—when one party
signals a problemwith producing or perceiving another’s turn at talk—into the domain
of visual bodily behavior. It presents one primary cross-linguistic finding about the
timing of visual bodily behavior in repair sequences: if the party who initiates repair
accompanies their turn with a “hold”—when relatively dynamic movements are
temporarily andmeaningfully held static—this positionwill not be disengaged until the
problem is resolved and the sequence closed. We base this finding on qualitative and
quantitative analysis of corpora of conversational interaction from three unrelated languages representing two different modalities: Northern Italian, the Cha’palaa language of Ecuador, and Argentine Sign Language. The cross-linguistic similarities
uncovered by this comparison suggest that visual bodily practices have been
semiotized for similar interactive functions across different languages and modalities
due to common pressures in face-to-face interaction.

Abstract

The first objective of this study was to compare the brain network engaged by preference classification and the standard grammaticality classification after implicit artificial syntax acquisition by re-analyzing previously reported event-related fMRI data. The results show that preference and grammaticality classification engage virtually identical brain networks, including Broca’s region, consistent with previous behavioral findings. Moreover, the results showed that the effects related to artificial syntax in Broca’s region were essentially the same when masked with variability related to natural syntax processing in the same participants. The second objective was to explore CNTNAP2-related effects in implicit artificial syntax learning by analyzing behavioral and event-related fMRI data from a subsample. The CNTNAP2 gene has been linked to specific language impairment and is controlled by the FOXP2 transcription factor. CNTNAP2 is expressed in language related brain networks in the developing human brain and the FOXP2–CNTNAP2 pathway provides a mechanistic link between clinically distinct syndromes involving disrupted language. Finally, we discuss the implication of taking natural language to be a neurobiological system in terms of bounded recursion and suggest that the left inferior frontal region is a generic on-line sequence processor that unifies information from various sources in an incremental and recursive manner.

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

Several quantitative trait loci (QTLs) that influence developmental dyslexia (reading disability [RD]) have been mapped to chromosome regions by linkage analysis. The most consistently replicated area of linkage is on chromosome 6p23-21.3. We used association analysis in 223 siblings from the United Kingdom to identify an underlying QTL on 6p22.2. Our association study implicates a 77-kb region spanning the gene TTRAP and the first four exons of the neighboring uncharacterized gene KIAA0319. The region of association is also directly upstream of a third gene, THEM2. We found evidence of these associations in a second sample of siblings from the United Kingdom, as well as in an independent sample of twin-based sibships from Colorado. One main RD risk haplotype that has a frequency of ∼12% was found in both the U.K. and U.S. samples. The haplotype is not distinguished by any protein-coding polymorphisms, and, therefore, the functional variation may relate to gene expression. The QTL influences a broad range of reading-related cognitive abilities but has no significant impact on general cognitive performance in these samples. In addition, the QTL effect may be largely limited to the severe range of reading disability.

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

Francks et al. (2007) performed a recent study in which the first putative genetic effect on human handedness was identified (the imprinted locus LRRTM1 on human chromosome 2). In this issue of Laterality, Tim Crow and colleagues present a critique of that study. The present paper presents a personal response to that critique which argues that Francks et al. (2007) published a substantial body of evidence implicating LRRTM1 in handedness and schizophrenia. Progress will now be achieved by others trying to validate, refute, or extend those findings, rather than by further armchair discussion.

Abstract

Prior language input is not lost but integrated with the current input. This principle is demonstrated by “reservoir computing”: Untrained recurrent neural networks project input sequences onto a random point in high-dimensional state space. Earlier inputs can be retrieved from this projection, albeit less reliably so as more input is received. The bottleneck is therefore not “Now-or-Never” but “Sooner-is-Better.

Abstract

Schizophrenia is a devastating psychiatric illness with high heritability. Brain structure and function differ, on average, between people with schizophrenia and healthy individuals. As common genetic associations are emerging for both schizophrenia and brain imaging phenotypes, we can now use genome-wide data to investigate genetic overlap. Here we integrated results from common variant studies of schizophrenia (33,636 cases, 43,008 controls) and volumes of several (mainly subcortical) brain structures (11,840 subjects). We did not find evidence of genetic overlap between schizophrenia risk and subcortical volume measures either at the level of common variant genetic architecture or for single genetic markers. These results provide a proof of concept (albeit based on a limited set of structural brain measures) and define a roadmap for future studies investigating the genetic covariance between structural or functional brain phenotypes and risk for psychiatric disorders

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

Do people incrementally incorporate the meaning of quantifier expressions to understand an unfolding sentence? Most previous studies concluded that quantifiers do not immediately influence how a sentence is understood based on the observation that online N400-effects differed from offline plausibility judgments. Those studies, however, used serial visual presentation (SVP), which involves unnatural reading. In the current ERP-experiment, we presented spoken positive and negative quantifier sentences (“Practically all/practically no postmen prefer delivering mail, when the weather is good/bad during the day”). Different from results obtained in a previously reported SVP-study (Nieuwland, 2016) sentence truth-value N400 effects occurred in positive and negative quantifier sentences alike, reflecting fully incremental quantifier comprehension. This suggests that the prosodic information available during spoken language comprehension supports the generation of online predictions for upcoming words and that, at least for quantifier sentences, comprehension of spoken language may proceed more incrementally than comprehension during SVP reading.

Abstract

Language learning requires mastering multiple tasks, including segmenting speech to identify words, and learning the syntactic role of these words within sentences. A key question in language acquisition research is the extent to which these tasks are sequential or successive, and consequently whether they may be driven by distinct or similar computations. We explored a classic artificial language learning paradigm, where the language structure is defined in terms of non-adjacent dependencies. We show that participants are able to use the same statistical information at the same time to segment continuous speech to both identify words and to generalise over the structure, when the generalisations were over novel speech that the participants had not previously experienced. We suggest that, in the absence of evidence to the contrary, the most economical explanation for the effects is that speech segmentation and grammatical generalisation are dependent on similar statistical processing mechanisms.

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

This study addressed the question as to whether grammatical properties of a first language are transferred to a second language. Dutch-English bilinguals classified Dutch words in white print according to their grammatical gender and colored words (i.e. Dutch common and neuter words, and their English translations) according to their color. Both the classifications were made with the same hand (congruent trials) or different hands (incongruent trials). Performance was more erroneous and the error-elated negativity was enhanced on incongruent compared with congruent trials. This effect was independent of the language in which words were presented. These results provide evidence for the fact thatbilinguals may transfer grammatical characteristics oftheir first language to a second language, even when such characteristics are absent in the grammar of the latter.

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

This study addresses how verbal self-monitoring and the Error-Related Negativity (ERN) are affected by time pressure
when a task is performed in a second language as opposed to performance in the native language. German–Dutch
bilinguals were required to perform a phoneme-monitoring task in Dutch with and without a time pressure manipulation.
We obtained an ERN following verbal errors that showed an atypical increase in amplitude under time
pressure. This finding is taken to suggest that under time pressure participants had more interference from their native
language, which in turn led to a greater response conflict and thus enhancement of the amplitude of the ERN. This
result demonstrates once more that the ERN is sensitive to psycholinguistic manipulations and suggests that the
functioning of the verbal self-monitoring systemduring speaking is comparable to other performance monitoring, such
as action monitoring.

Abstract

Speech production long avoided electrophysiological experiments due to the suspicion that potential artifacts caused by muscle activity of overt speech may lead to a bad signal-to-noise ratio in the measurements. Therefore, researchers have sought to assess speech production by using indirect speech production tasks, such as tacit or implicit naming, delayed naming, or metalinguistic tasks, such as phoneme monitoring. Covert speech may, however, involve different processes than overt speech production. Recently, overt speech has been investigated using EEG. As the number of papers published is rising steadily, this clearly indicates the increasing interest and demand for overt speech research within the field of cognitive neuroscience of language. Our main goal here is to review all currently available results of overt speech production involving EEG measurements, such as picture naming, Stroop naming, and reading aloud. We conclude that overt speech production can be successfully studied using electrophysiological measures, for instance, event-related brain potentials (ERPs). We will discuss possible relevant components in the ERP waveform of speech production and aim to address the issue of how to interpret the results of ERP research using overt speech, and whether the ERP components in language production are comparable to results from other fields.

Abstract

Phonagnosia, the inability to recognize familiar voices, has been studied in brain-damaged patients but no cases due to developmental problems have been reported. Here we describe the case of KH, a 60-year-old active professional woman who reports that she has always experienced severe voice recognition difficulties. Her hearing abilities are normal, and an MRI scan showed no evidence of brain damage in regions associated with voice or auditory perception. To better understand her condition and to assess models of voice and high-level auditory processing, we tested KH on behavioural tasks measuring voice recognition, recognition of vocal emotions, face recognition, speech perception, and processing of environmental sounds and music. KH was impaired on tasks requiring the recognition of famous voices and the learning and recognition of new voices. In contrast, she performed well on nearly all other tasks. Her case is the first report of developmental phonagnosia, and the results suggest that the recognition of a speaker’s vocal identity depends on separable mechanisms from those used to recognize other information from the voice or non-vocal auditory stimuli.

Abstract

Adult mouse ultrasonic vocalizations (USVs) occur in multiple behavioral and stimulus contexts associated with various levels of arousal, emotion, and social interaction. Here, in three experiments of increasing stimulus intensity (water; female urine; male interacting with adult female), we tested the hypothesis that USVs of adult males express the strength of arousal and emotion via different USV parameters (18 parameters analyzed). Furthermore, we analyzed two mouse lines with heterozygous Foxp2 mutations (R552H missense, S321X nonsense), known to produce severe speech and language disorders in humans. These experiments allowed us to test whether intact Foxp2 function is necessary for developing full adult USV repertoires, and whether mutations of this gene influence instinctive vocal expressions based on arousal and emotion. The results suggest that USV calling rate characterizes the arousal level, while sound pressure and spectro-temporal call complexity (overtones/harmonics, type of frequency jumps) may provide indices of levels of positive emotion. The presence of Foxp2 mutations did not qualitatively affect the USVs; all USV types that were found in wild-type animals also occurred in heterozygous mutants. However, mice with Foxp2 mutations displayed quantitative differences in USVs as compared to wild-types, and these changes were context dependent. Compared to wild-type animals, heterozygous mutants emitted mainly longer and louder USVs at higher minimum frequencies with a higher occurrence rate of overtones/harmonics and complex frequency jump types. We discuss possible hypotheses about Foxp2 influence on emotional vocal expressions, which can be investigated in future experiments using selective knockdown of Foxp2 in specific brain circuits.

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

In the context of large and ever growing archives, generating annotation suggestions automatically from textual resources related to the documents to be archived is an interesting option in theory. It could save a lot of work in the time consuming and expensive task of manual annotation and it could help cataloguers attain a higher inter-annotator agreement. However, some questions arise in practice: what is the quality of the automatically produced annotations? How do they compare with manual annotations and with the requirements for annotation that were defined in the archive? If different from the manual annotations, are the automatic annotations wrong? In the CHOICE project, partially hosted at the Netherlands Institute for Sound and Vision, the Dutch public archive for audiovisual broadcasts, we automatically generate annotation suggestions for cataloguers. In this paper, we define three types of evaluation of these annotation suggestions: (1) a classic and strict evaluation measure expressing the overlap between automatically generated keywords and the manual annotations, (2) a loosened evaluation measure for which semantically very similar annotations are also considered as relevant matches, and (3) an in-use evaluation of the usefulness of manual versus automatic annotations in the context of serendipitous browsing. During serendipitous browsing, the annotations (manual or automatic) are used to retrieve and visualize semantically related documents.