Publications

Abstract

This paper describes the distribution and phonetic properties of accentuation of word forms in Awetí, a Tupian language spoken by ca. 150 people in central Brazil in the Upper Xingu area. Awetí does not belong to, but is arguably the closest relative of the better known Tupí-Guaraní subfamily, the largest branch of the Tupí stock. After a short overview over the word classes and general phonotactics of Awetí (sec-tion 2), we briefly discuss the notion ‘word accent’ and show that, in Awetí, it is generally located on the last syllable of the stem in morphologically simple forms (section 3). We then discuss regular and isolated exceptions to this rule (section 4). In section 5, we describe the distribution of the word accent when inflectional or deriva-tional suffixes are present – usually, the word accent of the word form with suffixes continues to be on the last syllable of the stem. After this descriptive part, we present a preliminary study of the acoustic-phonetic details of the manifestation of the word accent, observing word forms in isolation (section 6) and in different syntactic con-texts (section 7). The results are briefly summarized in the conclusion (section 8)

Abstract

Investigating human cognitive faculties such as language, attention, and memory most often relies on testing small and homogeneous groups of volunteers coming to research facilities where they are asked to participate in behavioral experiments. We show that this limitation and sampling bias can be overcome by using smartphone technology to collect data in cognitive science experiments from thousands of subjects from all over the world. This mass coordinated use of smartphones creates a novel and powerful scientific ‘‘instrument’’ that yields the data necessary to test universal theories of cognition. This increase in power represents a potential revolution in cognitive science

Abstract

This paper analyzes newly collected lexical data from 26 languages of the Aslian subgroup of the Austroasiatic language family using computational phylogenetic methods. We show the most likely topology of the Aslian family tree, discuss rooting and external relationships to other Austroasiatic languages, and investigate differences in the rates of diversification of different branches. Evidence is given supporting the classification of Jah Hut as a fourth top level subgroup of the family. The phylogenetic positions of known geographic and linguistic outlier languages are clarified, and the relationships of the little studied Aslian languages of Southern Thailand to the rest of the family are explored.

Abstract

Languages vary widely but not without limit. The central goal of linguistics is to describe the diversity of human languages and explain the constraints on that diversity. Generative linguists following Chomsky have claimed that linguistic diversity must be constrained by innate parameters that are set as a child learns a language1, 2. In contrast, other linguists following Greenberg have claimed that there are statistical tendencies for co-occurrence of traits reflecting universal systems biases3, 4, 5, rather than absolute constraints or parametric variation. Here we use computational phylogenetic methods to address the nature of constraints on linguistic diversity in an evolutionary framework6. First, contrary to the generative account of parameter setting, we show that the evolution of only a few word-order features of languages are strongly correlated. Second, contrary to the Greenbergian generalizations, we show that most observed functional dependencies between traits are lineage-specific rather than universal tendencies. These findings support the view that—at least with respect to word order—cultural evolution is the primary factor that determines linguistic structure, with the current state of a linguistic system shaping and constraining future states.

Abstract

The Aslian branch of Austroasiatic is recognised as the oldest recoverable language family in the Malay Peninsula, predating the now dominant Austronesian languages present today. In this paper we address the dynamics of the prehistoric spread of Aslian languages across the peninsula, including the languages spoken by Semang foragers, traditionally associated with the 'Negrito' phenotype. The received view of an early and uniform tripartite break-up of proto-Aslian in the Early Neolithic period, and subsequent differentiation driven by societal modes is challenged. We present a Bayesian phylogeographic analysis of our dataset of vocabulary from 28 Aslian varieties. An explicit geographic model of diffusion is combined with a cognate birth-word death model of lexical evolution to infer the location of the major events of Aslian cladogenesis. The resultant phylogenetic trees are calibrated against dates in the historical and archaeological record to extrapolate a detailed picture of Aslian language history. We conclude that a binary split between Southern Aslian and the rest of Aslian took place in the Early Neolithic (4000 BP). This was followed much later in the Late Neolithic (2000-3000 BP) by a tripartite branching into Central Aslian, Jah Hut and Northern Aslian. Subsequent internal divisions within these sub-clades took place in the Early Metal Phase (post-2000 BP). Significantly, a split in Northern Aslian between Ceq Wong and the languages of the Semang was a late development and is proposed here to coincide with the adoption of Aslian by the Semang foragers. Given the difficulties involved in associating archaeologically recorded activities with linguistic events, as well as the lack of historical sources, our results remain preliminary. However, they provide sufficient evidence to prompt a rethinking of previous models of both clado- and ethno-genesis within the Malay Peninsula.

Abstract

Impaired understanding of others' sensations and emotions as well as abnormal experience of their own emotions and sensations is frequently reported in individuals with Autism Spectrum Disorder (ASD). It is hypothesized that these abnormalities are based on altered connectivity within “shared” neural networks involved in emotional awareness of self and others. The insula is considered a central brain region in a network underlying these functions, being located at the transition of information about bodily arousal and the physiological state of the body to subjective feelings. The present study investigated the intrinsic functional connectivity properties of the insula in 14 high-functioning participants with ASD (HF-ASD) and 15 typically developing (TD) participants in the age range between 12 and 20 years by means of “resting state” or “nontask” functional magnetic resonance imaging. Essentially, a distinction was made between anterior and posterior regions of the insular cortex. The results show a reduced functional connectivity in the HF-ASD group, compared with the TD group, between anterior as well as posterior insula and specific brain regions involved in emotional and sensory processing. It is suggested that functional abnormalities in a network involved in emotional and interoceptive awareness might be at the basis of altered emotional experiences and impaired social abilities in ASD, and that these abnormalities are partly based on the intrinsic functional connectivity properties of such a network.

Abstract

In two experiments, we investigated whether body posture influences people’s estimation of quantities. According to the mental-number-line theory, people mentally represent numbers along a line with smaller numbers on the left and larger numbers on the right. We hypothesized that surreptitiously making people lean to the right or to the left would affect their quantitative estimates. Participants answered estimation questions while standing on a Wii Balance Board. Posture was manipulated within subjects so that participants answered some questions while they leaned slightly to the left, some questions while they leaned slightly to the right, and some questions while they stood upright. Crucially, participants were not aware of this manipulation. Estimates were significantly smaller when participants leaned to the left than when they leaned to the right.

Abstract

Written and verbal languages are neurobehavioral traits vital to the development of communication skills. Unfortunately, disorders involving these traits-specifically reading disability (RD) and language impairment (LI)-are common and prevent affected individuals from developing adequate communication skills, leaving them at risk for adverse academic, socioeconomic and psychiatric outcomes. Both RD and LI are complex traits that frequently co-occur, leading us to hypothesize that these disorders share genetic etiologies. To test this, we performed a genome-wide association study on individuals affected with both RD and LI in the Avon Longitudinal Study of Parents and Children. The strongest associations were seen with markers in ZNF385D (OR = 1.81, P = 5.45 × 10(-7) ) and COL4A2 (OR = 1.71, P = 7.59 × 10(-7) ). Markers within NDST4 showed the strongest associations with LI individually (OR = 1.827, P = 1.40 × 10(-7) ). We replicated association of ZNF385D using receptive vocabulary measures in the Pediatric Imaging Neurocognitive Genetics study (P = 0.00245). We then used diffusion tensor imaging fiber tract volume data on 16 fiber tracts to examine the implications of replicated markers. ZNF385D was a predictor of overall fiber tract volumes in both hemispheres, as well as global brain volume. Here, we present evidence for ZNF385D as a candidate gene for RD and LI. The implication of transcription factor ZNF385D in RD and LI underscores the importance of transcriptional regulation in the development of higher order neurocognitive traits. Further study is necessary to discern target genes of ZNF385D and how it functions within neural development of fluent language.

Abstract

Genetic investigations of people with impaired development of spoken language provide windows into key aspects of human biology. Over 15 years after FOXP2 was identified, most speech and language impairments remain unexplained at the molecular level. We sequenced whole genomes of nineteen unrelated individuals diagnosed with childhood apraxia of speech, a rare disorder enriched for causative mutations of large effect. Where DNA was available from unaffected parents, we discovered de novo mutations, implicating genes, including CHD3, SETD1A and WDR5. In other probands, we identified novel loss-of-function variants affecting KAT6A, SETBP1, ZFHX4, TNRC6B and MKL2, regulatory genes with links to neurodevelopment. Several of the new candidates interact with each other or with known speech-related genes. Moreover, they show significant clustering within a single co-expression module of genes highly expressed during early human brain development. This study highlights gene regulatory pathways in the developing brain that may contribute to acquisition of proficient speech.

Abstract

Migraine is a disabling common brain disorder typically characterized by attacks of severe headache and associated with autonomic and neurological symptoms. Its etiology is far from resolved. This review will focus on evidence that epigenetic mechanisms play an important role in disease etiology. Epigenetics comprise both DNA methylation and post-translational modifications of the tails of histone proteins, affecting chromatin structure and gene expression. Besides playing a role in establishing cellular and developmental stage-specific regulation of gene expression, epigenetic processes are also important for programming lasting cellular responses to environmental signals. Epigenetic mechanisms may explain how non-genetic endogenous and exogenous factors such as female sex hormones, stress hormones and inflammation trigger may modulate attack frequency. Developing drugs that specifically target epigenetic mechanisms may open up exciting new avenues for the prophylactic treatment of migraine.

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

We conducted four experiments to investigate the specificity of perceptual adjustments made to unusual speech sounds. Dutch listeners heard a female talker produce an ambiguous fricative [?] (between [f] and [s]) in [f]- or [s]-biased lexical contexts. Listeners with [f]-biased exposure (e.g., [witlo?]; from witlof, “chicory”; witlos is meaningless) subsequently categorized more sounds on an [εf]–[εs] continuum as [f] than did listeners with [s]-biased exposure. This occurred when the continuum was based on the exposure talker's speech (Experiment 1), and when the same test fricatives appeared after vowels spoken by novel female and male talkers (Experiments 1 and 2). When the continuum was made entirely from a novel talker's speech, there was no exposure effect (Experiment 3) unless fricatives from that talker had been spliced into the exposure talker's speech during exposure (Experiment 4). We conclude that perceptual learning about idiosyncratic speech is applied at a segmental level and is, under these exposure conditions, talker specific.

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

Central to cultural, social, and conceptual life are cognitive arti-facts, the perceptible structures which populate our world and mediate our navigation of it, complementing, enhancing, and altering available affordances for the problem-solving challenges of everyday life. Much work in this domain has concentrated on technological artifacts, especially manual tools and devices and the conceptual and communicative tools of literacy and diagrams. Recent research on hand gestures and other bodily movements which occur during speech shows that the human body serves a number of the functions of "cognitive technologies," affording the special cognitive advantages claimed to be associated exclusively with enduring (e.g., printed or drawn) diagrammatic representations. The issue is explored with reference to extensive data from video-recorded interviews with speakers of Lao in Vientiane, Laos, which show integration of verbal descriptions with complex spatial representations akin to diagrams. The study has implications both for research on cognitive artifacts (namely, that the body is a visuospatial representational resource not to be overlooked) and for research on ethnogenealogical knowledge (namely, that hand gestures reveal speakers' conceptualizations of kinship structure which are of a different nature to and not necessarily retrievable from the accompanying linguistic code).

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

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

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

How do people answer polar questions? In this fourteen-language study of answers to questions in conversation, we compare the two main strategies; first, interjection-type answers such as uh-huh (or equivalents yes, mm, head nods, etc.), and second, repetition-type answers that repeat some or all of the question. We find that all languages offer both options, but that there is a strong asymmetry in their frequency of use, with a global preference for interjection-type answers. We propose that this preference is motivated by the fact that the two options are not equivalent in meaning. We argue that interjection-type answers are intrinsically suited to be the pragmatically unmarked, and thus more frequent, strategy for confirming polar questions, regardless of the language spoken. Our analysis is based on the semantic-pragmatic profile of the interjection-type and repetition-type answer strategies, in the context of certain asymmetries inherent to the dialogic speech act structure of question–answer sequences, including sequential agency and thematic agency. This allows us to see possible explanations for the outlier distributions found in ǂĀkhoe Haiǁom and Tzeltal.

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

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

Previous research has shown that the production of morphologically complex words in isolation is affected by the properties of morphologically, phonologically, or semantically similar words stored in the mental lexicon. We report five experiments with Dutch speakers that show that reading an inflectional word form in its linguistic context is also affected by analogical sets of formally similar words. Using the self-paced reading technique, we show in Experiments 1-3 that an incorrectly spelled suffix delays readers less if the incorrect spelling is in line with the spelling of verbal suffixes in other inflectional forms of the same verb. In Experiments 4 and 5, our use of the self-paced reading technique shows that formally similar words with different stems affect the reading of incorrect suffixal allomorphs on a given stem. These intra- and interparadigmatic effects in reading may be due to online processes or to the storage of incorrect forms resulting from analogical effects in production.

Abstract

Rede uitgesproken bij de aanvaarding van het ambt van hoogleraar Psycholinguïstiek aan de Faculteit der Letteren van de Radboud Universiteit Nijmegen op vrijdag 18 januari 2013

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

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

Reciprocals are an increasingly hot topic in linguistic research. This reflects the intersection of several factors: the semantic and syntactic complexity of reciprocal constructions, their centrality to some key points of linguistic theorizing (such as Binding Conditions on anaphors within Government and Binding Theory), and the centrality of reciprocity to theories of social structure, human evolution and social cognition. No existing work, however, tackles the question of exactly what reciprocal constructions mean cross-linguistically. Is there a single, Platonic ‘reciprocal’ meaning found in all languages, or is there a cluster of related concepts which are nonetheless impossible to characterize in any single way? That is the central goal of this volume, and it develops and explains new techniques for tackling this question. At the same time, it confronts a more general problem facing semantic typology: how to investigate a category cross-linguistically without pre-loading the definition of the phenomenon on the basis of what is found in more familiar languages.

Abstract

A principal components analysis of the ten scales of the Worry Questionnaire revealed the existence of major worry factors or domains of social evaluation and physical threat, and these factors were confirmed in a subsequent item analysis. Those high in trait anxiety had much higher scores on the Worry Questionnaire than those low in trait anxiety, especially on those scales relating to social evaluation. Scores on the Marlowe-Crowne Social Desirability Scale were negatively related to worry frequency. However, groups of low-anxious and repressed individucores did not differ in worry. It was concluded that worry, especals formed on the basis of their trait anxiety and social desirability sially in the social evaluation domain, is of fundamental importance to trait anxiety.

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

The oldest of the Celtic language family, Irish differs considerably from English, notably with respect to word order and case marking. In spite of differences in surface constituent structure, less restricted accounts of bilingual shared syntax predict that processing datives and passives in Irish should prime the production of their English equivalents. Furthermore, this cross-linguistic influence should be sensitive to L2 proficiency, if shared structural representations are assumed to develop over time. In Experiment 1, we investigated cross-linguistic structural priming from Irish to English in 47 bilingual adolescents who are educated through Irish. Testing took place in a classroom setting, using written primes and written sentence generation. We found that priming for prepositional-object (PO) datives was predicted by self-rated Irish (L2) proficiency, in line with previous studies. In Experiment 2, we presented translations of the materials to an English-educated control group (n=54). We found a within-language priming effect for PO datives, which was not modulated by English (L1) proficiency. Our findings are compatible with current theories of bilingual language processing and L2 syntactic acquisition.

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

When speaking in any language, speakers must conceptualize what they want to say before they can formulate and articulate their message. We present two experiments employing a novel experimental paradigm in which the formulating and articulating stages of speech production were kept identical across conditions of differing conceptualizing difficulty. We tracked the effect of difficulty in conceptualizing during the generation of speech (Experiment 1) and during the abandonment and regeneration of speech (Experiment 2) on speaking fluency by Dutch native speakers in their first (L1) and second (L2) language (English). The results showed that abandoning and especially regenerating a speech plan taxes the speaker, leading to disfluencies. For most fluency measures, the increases in disfluency were similar across L1 and L2. However, a significant interaction revealed that abandoning and regenerating a speech plan increases the time needed to solve conceptual difficulties while speaking in the L2 to a greater degree than in the L1. This finding supports theories in which cognitive resources for conceptualizing are shared with those used for later stages of speech planning. Furthermore, a practical implication for language assessment is that increasing the conceptual difficulty of speaking tasks should be considered with caution.

Abstract

A large literature in social neuroscience has associated the medial prefrontal cortex (mPFC) with the processing of self-related information. However, only recently have social neuroscience studies begun to consider the large behavioral literature showing a strong self-positivity bias, and these studies have mostly focused on its correlates during self-related judgments and decision making. We carried out a functional MRI (fMRI) study to ask whether the mPFC would show effects of the self-positivity bias in a paradigm that probed participants’ self-concept without any requirement of explicit self-judgment. We presented social vignettes that were either self-relevant or non-self-relevant with a neutral, positive, or negative outcome described in the second sentence. In previous work using event-related potentials, this paradigm has shown evidence of a self-positivity bias that influences early stages of semantically processing incoming stimuli. In the present fMRI study, we found evidence for this bias within the mPFC: an interaction between self-relevance and valence, with only positive scenarios showing a self vs other effect within the mPFC. We suggest that the mPFC may play a role in maintaining a positively-biased self-concept and discuss the implications of these findings for the social neuroscience of the self and the role of the mPFC.

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

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 disorders affecting speech and language are highly heritable, but very little is currently understood about the neuromolecular mechanisms that underlie these traits. Integration of data from diverse research areas, including linguistics, neuropsychology, neuroimaging, genetics, molecular neuroscience, developmental biology, and evolutionary anthropology, is becoming essential for unraveling the relevant pathways. Recent studies of the FOXP2 gene provide a case in point. Mutation of FOXP2 causes a rare form of speech and language disorder, and the gene appears to be a crucial regulator of embryonic development for several tissues. Molecular investigations of the central nervous system indicate that the gene may be involved in establishing and maintaining connectivity of corticostriatal and olivocerebellar circuits in mammals. Notably, it has been shown that FOXP2 was subject to positive selection in recent human evolution. Consideration of findings from multiple levels of analysis demonstrates that FOXP2 cannot be characterized as “the gene for speech,” but rather as one critical piece of a complex puzzle. This story gives a flavor of what is to come in this field and indicates that anyone expecting simple explanations of etiology or evolution should be prepared for some intriguing surprises.

Abstract

FOXP2 mutations cause a speech and language disorder, raising interest in potential roles of this gene in human evolution. A new study re-evaluates genomic variation at the human FOXP2 locus but finds no evidence of recent adaptive evolution.

Abstract

Learning to talk is one of the most important milestones in human development, but we still have only a limited understanding of the way in which the process occurs. It normally takes just a few years to go from babbling newborn to fluent communicator. During this period, the child learns to produce a rich array of speech sounds through intricate control of articulatory muscles, assembles a vocabulary comprising thousands of words, and deduces the complicated structural rules that permit construction of meaningful sentences. All of this (and more) is achieved with little conscious effort.

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

Event-related potentials (ERPs) provide a window into how the brain is processing language. Here, we propose a theory that argues that ERPs such as the N400 and P600 arise as side effects of an error-based learning mechanism that explains linguistic adaptation and language learning. We instantiated this theory in a connectionist model that can simulate data from three studies on the N400 (amplitude modulation by expectancy, contextual constraint, and sentence position), five studies on the P600 (agreement, tense, word category, subcategorization and garden-path sentences), and a study on the semantic P600 in role reversal anomalies. Since ERPs are learning signals, this account explains adaptation of ERP amplitude to within-experiment frequency manipulations and the way ERP effects are shaped by word predictability in earlier sentences. Moreover, it predicts that ERPs can change over language development. The model provides an account of the sensitivity of ERPs to expectation mismatch, the relative timing of the N400 and P600, the semantic nature of the N400, the syntactic nature of the P600, and the fact that ERPs can change with experience. This approach suggests that comprehension ERPs are related to sentence production and language acquisition mechanisms

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

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

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

Purpose of review: The human brain supports acquisition mechanisms that can extract structural regularities implicitly from experience without the induction of an explicit model. Reber defined the process by which an individual comes to respond appropriately to the statistical structure of the input ensemble as implicit learning. He argued that the capacity to generalize to new input is based on the acquisition of abstract representations that reflect underlying structural regularities in the acquisition input. We focus this review of the implicit learning literature on studies published during 2004 and 2005. We will not review studies of repetition priming ('implicit memory'). Instead we focus on two commonly used experimental paradigms: the serial reaction time task and artificial grammar learning. Previous comprehensive reviews can be found in Seger's 1994 article and the Handbook of Implicit Learning. Recent findings: Emerging themes include the interaction between implicit and explicit processes, the role of the medial temporal lobe, developmental aspects of implicit learning, age-dependence, the role of sleep and consolidation. Summary: The attempts to characterize the interaction between implicit and explicit learning are promising although not well understood. The same can be said about the role of sleep and consolidation. Despite the fact that lesion studies have relatively consistently suggested that the medial temporal lobe memory system is not necessary for implicit learning, a number of functional magnetic resonance studies have reported medial temporal lobe activation in implicit learning. This issue merits further research. Finally, the clinical relevance of implicit learning remains to be determined.

Abstract

Previous research on the effect of perturbed auditory feedback in speech production has focused on two types of responses. In the short term, speakers generate compensatory motor commands in response to unexpected perturbations. In the longer term, speakers adapt feedforward motor programmes in response to feedback perturbations, to avoid future errors. The current study investigated the relation between these two types of responses to altered auditory feedback. Specifically, it was hypothesised that consistency in previous feedback perturbations would influence whether speakers adapt their feedforward motor programmes. In an altered auditory feedback paradigm, formant perturbations were applied either across all trials (the consistent condition) or only to some trials, whereas the others remained unperturbed (the inconsistent condition). The results showed that speakers’ responses were affected by feedback consistency, with stronger speech changes in the consistent condition compared with the inconsistent condition. Current models of speech-motor control can explain this consistency effect. However, the data also suggest that compensation and adaptation are distinct processes, which are not in line with all current models.

Abstract

Kleefstra syndrome (KS) is a neurodevelopmental disorder caused by mutations in the histone methyltransferase EHMT1. To study the impact of decreased EHMT1 function in human cells, we generated excitatory cortical neurons from induced pluripotent stem (iPS) cells derived from KS patients. Neuronal networks of patient-derived cells exhibit network bursting with a reduced rate, longer duration, and increased temporal irregularity compared to control networks. We show that these changes are mediated by upregulation of NMDA receptor (NMDAR) subunit 1 correlating with reduced deposition of the repressive H3K9me2 mark, the catalytic product of EHMT1, at the GRIN1 promoter. In mice EHMT1 deficiency leads to similar neuronal network impairments with increased NMDAR function. Finally, we rescue the KS patient-derived neuronal network phenotypes by pharmacological inhibition of NMDARs. Summarized, we demonstrate a direct link between EHMT1 deficiency and NMDAR hyperfunction in human neurons, providing a potential basis for more targeted therapeutic approaches for KS.

Abstract

Disruptions of the FOXP2 gene cause a speech and language disorder involving difficulties in sequencing orofacial movements. FOXP2 is expressed in cortico-striatal and cortico-cerebellar circuits important for fine motor skills, and affected individuals show abnormalities in these brain regions. We selectively disrupted Foxp2 in the cerebellar Purkinje cells, striatum or cortex of mice and assessed the effects on skilled motor behaviour using an operant lever-pressing task. Foxp2 loss in each region impacted behaviour differently, with striatal and Purkinje cell disruptions affecting the variability and the speed of lever-press sequences, respectively. Mice lacking Foxp2 in Purkinje cells showed a prominent phenotype involving slowed lever pressing as well as deficits in skilled locomotion. In vivo recordings from Purkinje cells uncovered an increased simple spike firing rate and decreased modulation of firing during limb movements. This was caused by increased intrinsic excitability rather than changes in excitatory or inhibitory inputs. Our findings show that Foxp2 can modulate different aspects of motor behaviour in distinct brain regions, and uncover an unknown role for Foxp2 in the modulation of Purkinje cell activity that severely impacts skilled movements.

Abstract

High frequency words have been suggested to benefit both speech segmentation and grammatical categorization of the words around them. Despite utilizing similar information, these tasks are usually investigated separately in studies examining learning. We determined whether including high frequency words in continuous speech could support categorization when words are being segmented for the first time. We familiarized learners with continuous artificial speech comprising repetitions of target words, which were preceded by high-frequency marker words. Crucially, marker words distinguished targets into 2 distributionally defined categories. We measured learning with segmentation and categorization tests and compared performance against a control group that heard the artificial speech without these marker words (i.e., just the targets, with no cues for categorization). Participants segmented the target words from speech in both conditions, but critically when the marker words were present, they influenced acquisition of word-referent mappings in a subsequent transfer task, with participants demonstrating better early learning for mappings that were consistent (rather than inconsistent) with the distributional categories. We propose that high-frequency words may assist early grammatical categorization, while speech segmentation is still being learned.

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

Several studies report an association between REM Sleep Behavior Disorder (RBD) and neurodegenerative diseases, in particular synucleinopathies. Interestingly, the onset of RBD precedes the development of neurodegeneration by several years. This review and meta-analysis aims to establish the rate of conversion of RBD into neurodegenerative diseases. Longitudinal studies were searched from the PubMed, Web of Science, and SCOPUS databases. Using random-effect modeling, we performed a meta-analysis on the rate of RBD conversions into neurodegeneration. Furthermore, we fitted a Kaplan-Meier analysis and compared the differences between survival curves of different diseases with log-rank tests. The risk for developing neurodegenerative diseases was 33.5% at five years follow-up, 82.4% at 10.5 years and 96.6% at 14 years. The average conversion rate was 31.95% after a mean duration of follow-up of 4.75 ± 2.43 years. The majority of RBD patients converted to Parkinson's Disease (43%), followed by Dementia with Lewy Bodies (25%). The estimated risk for RBD patients to develop a neurodegenerative disease over a long-term follow-up is more than 90%. Future studies should include control group for the evaluation of REM sleep without atonia as marker for neurodegeneration also in non-clinical population and target RBD as precursor of neurodegeneration to develop protective trials.

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

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

Learning to read a second language (L2) can pose a great challenge for children who have already been struggling to read in their first language (L1). Moreover, it is not clear whether, to what extent, and under what circumstances L1 reading difficulty increases the risk of L2 reading difficulty. This study investigated Chinese (L1) and English (L2) reading skills in a large representative sample of 1,824 Chinese–English bilingual children in Grades 4 and 5 from both urban and rural schools in Beijing. We examined the prevalence of reading difficulty in Chinese only (poor Chinese readers, PC), English only (poor English readers, PE), and both Chinese and English (poor bilingual readers, PB) and calculated the co-occurrence, that is, the chances of becoming a poor reader in English given that the child was already a poor reader in Chinese. We then conducted a multinomial logistic regression analysis and compared the prevalence of PC, PE, and PB between children in Grade 4 versus Grade 5, in urban versus rural areas, and in boys versus girls. Results showed that compared to girls, boys demonstrated significantly higher risk of PC, PE, and PB. Meanwhile, compared to the 5th graders, the 4th graders demonstrated significantly higher risk of PC and PB. In addition, children enrolled in the urban schools were more likely to become better second language readers, thus leading to a concerning rural–urban gap in the prevalence of L2 reading difficulty. Finally, among these Chinese–English bilingual children, regardless of sex and school location, poor reading skill in Chinese significantly increased the risk of also being a poor English reader, with a considerable and stable co-occurrence of approximately 36%. In sum, this study suggests that despite striking differences between alphabetic and logographic writing systems, L1 reading difficulty still significantly increases the risk of L2 reading difficulty. This indicates the shared meta-linguistic skills in reading different writing systems and the importance of understanding the universality and the interdependent relationship of reading between different writing systems. Furthermore, the male disadvantage (in both L1 and L2) and the urban–rural gap (in L2) found in the prevalence of reading difficulty calls for special attention to disadvantaged populations in educational practice.

Abstract

Previous research shows conflicting findings for the effect of font readability on comprehension and memory for language. It has been found that—perhaps counterintuitively–a hard to read font can be beneficial for language comprehension, especially for difficult language. Here we test how font readability influences the subjective experience of poetry reading. In three experiments we tested the influence of poem difficulty and font readability on the subjective experience of poems. We specifically predicted that font readability would have opposite effects on the subjective experience of easy versus difficult poems. Participants read poems which could be more or less difficult in terms of conceptual or structural aspects, and which were presented in a font that was either easy or more difficult to read. Participants read existing poems and subsequently rated their subjective experience (measured through four dependent variables: overall liking, perceived flow of the poem, perceived topic clarity, and perceived structure). In line with previous literature we observed a Poem Difficulty x Font Readability interaction effect for subjective measures of poetry reading. We found that participants rated easy poems as nicer when presented in an easy to read font, as compared to when presented in a hard to read font. Despite the presence of the interaction effect, we did not observe the predicted opposite effect for more difficult poems. We conclude that font readability can influence reading of easy and more difficult poems differentially, with strongest effects for easy poems.

Abstract

It is a common finding across languages that young children have problems in understanding patient-initial sentences. We used Tagalog, a verb-initial language with a reliable voice-marking system and highly frequent patient voice constructions, to test the predictions of several accounts that have been proposed to explain this difficulty: the frequency account, the Competition Model, and the incremental processing account. Study 1 presents an analysis of Tagalog child-directed speech, which showed that the dominant argument order is agent-before-patient and that morphosyntactic markers are highly valid cues to thematic role assignment. In Study 2, we used a combined self-paced listening and picture verification task to test how Tagalog-speaking adults and 5- and 7-year-old children process reversible transitive sentences. Results showed that adults performed well in all conditions, while children’s accuracy and listening times for the first noun phrase indicated more difficulty in interpreting patient-initial sentences in the agent voice compared to the patient voice. The patient voice advantage is partly explained by both the frequency account and incremental processing account.

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

BACKGROUND: There is a growing interest in the study of the genetic origins of comorbidity, a direct consequence of the recent findings of genetic loci that are seemingly linked to more than one disorder. There are several potential causes for these shared regions of linkage, but one possibility is that these loci may harbor genes with manifold effects. The established genetic correlation between reading disability (RD) and attention-deficit/hyperactivity disorder (ADHD) suggests that their comorbidity is due at least in part to genes that have an impact on several phenotypes, a phenomenon known as pleiotropy. METHODS: We employ a bivariate linkage test for selected samples that could help identify these pleiotropic loci. This linkage method was employed to carry out the first bivariate genome-wide analysis for RD and ADHD, in a selected sample of 182 sibling pairs. RESULTS: We found evidence for a novel locus at chromosome 14q32 (multipoint LOD=2.5; singlepoint LOD=3.9) with a pleiotropic effect on RD and ADHD. Another locus at 13q32, which had been implicated in previous univariate scans of RD and ADHD, seems to have a pleiotropic effect on both disorders. 20q11 is also suggested as a pleiotropic locus. Other loci previously implicated in RD or ADHD did not exhibit bivariate linkage. CONCLUSIONS: Some loci are suggested as having pleiotropic effects on RD and ADHD, while others might have unique effects. These results highlight the utility of this bivariate linkage method to study pleiotropy.

Abstract

The way the human brain represents speech in memory is still unknown. An obvious characteristic of speech is its evolvement over time.
During speech processing, neural oscillations are modulated by the temporal properties of the acoustic speech signal, but also acquired
knowledge on the temporal structure of language influences speech perception-related brain activity. This suggests that speech could be
represented in the temporal domain, a form of representation that the brain also uses to encode autobiographic memories. Empirical
evidence for such a memory code is lacking. We investigated the nature of speech memory representations using direct cortical recordings
in the left perisylvian cortex during delayed sentence reproduction in female and male patients undergoing awake tumor surgery.
Our results reveal that the brain endogenously represents speech in the temporal domain. Temporal pattern similarity analyses revealed
that the phase of frontotemporal low-frequency oscillations, primarily in the beta range, represents sentence identity in working memory.
The positive relationship between beta power during working memory and task performance suggests that working memory
representations benefit from increased phase separation.

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

The methylation of cytosines in CpG dinucleotides is essential for cellular differentiation and the progression of many cancers, and it plays an important role in gametic imprinting. To assess variation and inheritance of genome-wide patterns of DNA methylation simultaneously in humans, we applied reduced representation bisulfite sequencing (RRBS) to somatic DNA from six members of a three-generation family. We observed that 8.1% of heterozygous SNPs are associated with differential methylation in cis, which provides a robust signature for Mendelian transmission and relatedness. The vast majority of differential methylation between homologous chromosomes (>92%) occurs on a particular haplotype as opposed to being associated with the gender of the parent of origin, indicating that genotype affects DNA methylation of far more loci than does gametic imprinting. We found that 75% of genotype-dependent differential methylation events in the family are also seen in unrelated individuals and that overall genotype can explain 80% of the variation in DNA methylation. These events are under-represented in CpG islands, enriched in intergenic regions, and located in regions of low evolutionary conservation. Even though they are generally not in functionally constrained regions, 22% (twice as many as expected by chance) of genes harboring genotype-dependent DNA methylation exhibited allele-specific gene expression as measured by RNA-seq of a lymphoblastoid cell line, indicating that some of these events are associated with gene expression differences. Overall, our results demonstrate that the influence of genotype on patterns of DNA methylation is widespread in the genome and greatly exceeds the influence of imprinting on genome-wide methylation patterns.

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

Developmental dyslexia (DD) is one of the most prevalent learning disorders, with high impact on school and psychosocial development and high comorbidity with conditions like attention-deficit hyperactivity disorder (ADHD), depression, and anxiety. DD is characterized by deficits in different cognitive skills, including word reading, spelling, rapid naming, and phonology. To investigate the genetic basis of DD, we conducted a genome-wide association study (GWAS) of these skills within one of the largest studies available, including nine cohorts of reading-impaired and typically developing children of European ancestry (N = 2562–3468). We observed a genome-wide significant effect (p < 1 × 10−8) on rapid automatized naming of letters (RANlet) for variants on 18q12.2, within MIR924HG (micro-RNA 924 host gene; rs17663182 p = 4.73 × 10−9), and a suggestive association on 8q12.3 within NKAIN3 (encoding a cation transporter; rs16928927, p = 2.25 × 10−8). rs17663182 (18q12.2) also showed genome-wide significant multivariate associations with RAN measures (p = 1.15 × 10−8) and with all the cognitive traits tested (p = 3.07 × 10−8), suggesting (relational) pleiotropic effects of this variant. A polygenic risk score (PRS) analysis revealed significant genetic overlaps of some of the DD-related traits with educational attainment (EDUyears) and ADHD. Reading and spelling abilities were positively associated with EDUyears (p ~ [10−5–10−7]) and negatively associated with ADHD PRS (p ~ [10−8−10−17]). This corroborates a long-standing hypothesis on the partly shared genetic etiology of DD and ADHD, at the genome-wide level. Our findings suggest new candidate DD susceptibility genes and provide new insights into the genetics of dyslexia and its comorbities.

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

BACKGROUND: Lower cognitive functioning in early childhood has been proposed as a risk factor for depression in later life but its association with depressive symptoms during adolescence has rarely been investigated. Our study examines the relationship between total intelligence quotient (IQ) score at age 8 years, and depressive symptoms at 11, 13, 14 and 17 years. METHOD: Study participants were 5250 children and adolescents from the Avon Longitudinal Study of Parents and their Children (ALSPAC), UK, for whom longitudinal data on depressive symptoms were available. IQ was assessed with the Wechsler Intelligence Scale for Children III, and self-reported depressive symptoms were measured with the Short Mood and Feelings Questionnaire (SMFQ). RESULTS: Multi-level analysis on continuous SMFQ scores showed that IQ at age 8 years was inversely associated with depressive symptoms at age 11 years, but the association changed direction by age 13 and 14 years (age-IQ interaction, p<}0.0001; age squared-IQ interaction, p{<}0.0001) when a higher IQ score was associated with a higher risk of depressive symptoms. This change in IQ effect was also found in relation to pubertal stage (pubertal stage-IQ interaction, 0.00049{

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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

Patterns formed by reaction-diffusion mechanisms are crucial for the development or sustenance of most organisms in nature. Patterns include dynamic waves, but are more often found as static distributions, such as animal skin patterns. Yet, a simplistic biological model system to reproduce and quantitatively investigate static reaction-diffusion patterns has been missing so far. Here, we demonstrate that the Escherichia coli MM system, known for its oscillatory behavior between the cell poles, is under certain conditions capable of transitioning to quasi-stationary protein distributions on membranes closely resembling Turing patterns. We systematically titrated both proteins, MinD and MinE, and found that removing all purification tags and linkers from the N-terminus of MinE was critical for static patterns to occur. At small bulk heights, dynamic patterns dominate, such as in rod-shaped microcompartments. We see implications of this work for studying pattern formation in general, but also for creating artificial gradients as downstream cues in synthetic biology applications.

Abstract

Interactive models of language production predict that it should be possible to observe long-distance interactions; effects that arise at one level of processing influence multiple subsequent stages of representation and processing. We examine the hypothesis that disruptions arising in nonform-based levels of planning—specifically, lexical selection—should modulate articulatory processing. A novel automatic phonetic analysis method was used to examine productions in a paradigm yielding both general disruptions to formulation processes and, more specifically, overt errors during lexical selection. This analysis method allowed us to examine articulatory disruptions at multiple levels of analysis, from whole words to individual segments. Baseline performance by young adults was contrasted with young speakers’ performance under time pressure (which previous work has argued increases interaction between planning and articulation) and performance by older adults (who may have difficulties inhibiting nontarget representations, leading to heightened interactive effects). The results revealed the presence of interactive effects. Our new analysis techniques revealed these effects were strongest in initial portions of responses, suggesting that speech is initiated as soon as the first segment has been planned. Interactive effects did not increase under response pressure, suggesting interaction between planning and articulation is relatively fixed. Unexpectedly, lexical selection disruptions appeared to yield some degree of facilitation in articulatory processing (possibly reflecting semantic facilitation of target retrieval) and older adults showed weaker, not stronger interactive effects (possibly reflecting weakened connections between lexical and form-level representations).

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

Chicks can convey information about their needs with calls. But it is still unknown if there are any universal need indicators in chick vocalizations. Previous studies have shown that in some species vocal activity and/or temporal-frequency variables of calls are related to the chick state, whereas other studies did not confirm it. Here, we tested experimentally whether vocal activity and temporal-frequency variables of calls change with cooling. We studied 10 human-raised
Siberian crane (Grus leucogeranus) chicks at 3–15 days of age. We found that the cooled chicks produced calls higher in fundamental
frequency and power variables, longer in duration and at a higher calling rate than in the control chicks. However, we did not find
significant changes in level of entropy and occurrence of non-linear phenomena in chick calls recorded during the experimental cooling. We suggest that the level of vocal activity is a universal indicator of need for warmth in precocial and semi-precocial birds (e.g. cranes), but not in altricial ones. We also assume that coding of needs via temporal-frequency variables of calls is typical in species whose adults could not confuse their chicks with other chicks. Siberian cranes stay on separate territories during their breeding season, so parents do not need to check individuality of their offspring in the home area. In this case, all call characteristics are available for other purposes and serve to communicate chicks’ vital needs.

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

The scavenger receptor C-type lectin (SRCL) is a glycan-binding receptor that has the capacity to mediate endocytosis of glycoproteins carrying terminal Lewis(x) groups (Galβ1-4(Fucα1-3)GlcNAc). A screen for glycoprotein ligands for SRCL using affinity chromatography on immobilized SRCL followed by mass spectrometry-based proteomic analysis revealed that soluble glycoproteins from secondary granules of neutrophils, including lactoferrin and matrix metalloproteinases 8 and 9, are major ligands. Binding competition and surface plasmon resonance analysis showed affinities in the low micromolar range. Comparison of SRCL binding to neutrophil and milk lactoferrin indicates that the binding is dependent on cell-specific glycosylation in the neutrophils, as the milk form of the glycoprotein is a much poorer ligand. Binding to neutrophil glycoproteins is fucose dependent and mass spectrometry-based glycomic analysis of neutrophil and milk lactoferrin was used to establish a correlation between high affinity binding to SRCL and the presence of multiple, clustered terminal Lewis(x) groups on a heterogeneous mixture of branched glycans, some with poly N-acetyllactosamine extensions. The ability of SRCL to mediate uptake of neutrophil lactoferrin was confirmed using fibroblasts transfected with SRCL. The common presence of Lewis(x) groups in granule protein glycans can thus target granule proteins for clearance by SRCL. PCR and immunohistochemical analysis confirms that SRCL is widely expressed on endothelial cells and thus represents a distributed system which could scavenge released neutrophil glycoproteins both locally at sites of inflammation or systemically when they are released in the circulation.

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

This study examined electrophysiological correlates of sentence comprehension of native-accented and foreign-accented
speech in a second language (L2), for sentences produced in a foreign accent different from that associated with the listeners’
L1. Bilingual speaker-listeners process different accents in their L2 conversations, but the effects on real-time L2 sentence
comprehension are unknown. Dutch–English bilinguals listened to native American-English accented sentences and foreign
(and for them unfamiliarly-accented) Chinese-English accented sentences while EEG was recorded. Behavioral sentence
comprehension was highly accurate for both native-accented and foreign-accented sentences. ERPs showed different patterns
for L2 grammar and semantic processing of native- and foreign-accented speech. For grammar, only native-accented speech
elicited an Nref. For semantics, both native- and foreign-accented speech elicited an N400 effect, but with a delayed onset
across both accent conditions. These findings suggest that the way listeners comprehend native- and foreign-accented
sentences in their L2 depends on their familiarity with the accent.

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

Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic variants contribute substantially to ASD susceptibility, but to date no individual variants have been robustly associated with ASD. With a marked sample-size increase from a unique Danish population resource, we report a genome-wide association meta-analysis of 18,381 individuals with ASD and 27,969 controls that identified five genome-wide-significant loci. Leveraging GWAS results from three phenotypes with significantly overlapping genetic architectures (schizophrenia, major depression, and educational attainment), we identified seven additional loci shared with other traits at equally strict significance levels. Dissecting the polygenic architecture, we found both quantitative and qualitative polygenic heterogeneity across ASD subtypes. These results highlight biological insights, particularly relating to neuronal function and corticogenesis, and establish that GWAS performed at scale will be much more productive in the near term in ASD.