Publications

Abstract

Communication is facilitated when listeners allocate their attention to important information (focus) in the message, a process called "information structure." Linguistic cues like the preceding context and pitch accent help listeners to identify focused information. In multimodal communication, relevant information can be emphasized by nonverbal cues like beat gestures, which represent rhythmic nonmeaningful hand movements. Recent studies have found that linguistic and nonverbal attention cues are integrated independently in single sentences. However, it is possible that these two cues interact when information is embedded in context, because context allows listeners to predict what information is important. In an ERP study, we tested this hypothesis and asked listeners to view videos capturing a dialogue. In the critical sentence, focused and nonfocused words were accompanied by beat gestures, grooming hand movements, or no gestures. ERP results showed that focused words are processed more attentively than nonfocused words as reflected in an N1 and P300 component. Hand movements also captured attention and elicited a P300 component. Importantly, beat gesture and focus interacted in a late time window of 600-900 msec relative to target word onset, giving rise to a late positivity when nonfocused words were accompanied by beat gestures. Our results show that listeners integrate beat gesture with the focus of the message and that integration costs arise when beat gesture falls on nonfocused information. This suggests that beat gestures fulfill a unique focusing function in multimodal discourse processing and that they have to be integrated with the information structure of the message.

Abstract

We provide an annotated coding scheme for other-initiated repair, along with guidelines for building collections and aggregating cases based on interactionally relevant similarities and differences. The questions and categories of the scheme are grounded in inductive observations of conversational data and connected to a rich body of work on other-initiated repair in conversation analysis. The scheme is developed and tested in a 12-language comparative project and can serve as a stepping stone for future work on other-initiated repair and the systematic comparative study of conversational structures.

Abstract

This article explores language, culture, and the perceptual world as reflected in a particular linguistic device: ideophones, marked words that depict sensory imagery. Data from a range of elicitation tasks shows that ideophones are a key resource in talking about sensory perception in Siwu. Their use in everyday conversations underlines their communicative versatility while at the same time showing that people delight in their expressiveness. In ideophones, we have an expressive resource that combines sheer playfulness with extraordinary precision

Abstract

Sound symbolism is a phenomenon with broad relevance to the study of language and mind, but there has been a disconnect between its investigations in linguistics and psychology. This study tests the sound-symbolic potential of ideophones—words described as iconic—in an experimental task that improves over prior work in terms of ecological validity and experimental control. We presented 203 ideophones from five languages to eighty-two Dutch listeners in a binary-choice task, in four versions: original recording, full diphone resynthesis, segments-only resynthesis, and prosody-only resynthesis. Listeners guessed the meaning of all four versions above chance, confirming the iconicity of ideophones and showing the viability of speech synthesis as a way of controlling for segmental and suprasegmental properties in experimental studies of sound symbolism. The success rate was more modest than prior studies using pseudowords like bouba/kiki, implying that assumptions based on such words cannot simply be transferred to natural languages. Prosody and segments together drive the effect: neither alone is sufficient, showing that segments and prosody work together as cues supporting iconic interpretations. The findings cast doubt on attempts to ascribe iconic meanings to segments alone and support a view of ideophones as words that combine arbitrariness and iconicity.We discuss the implications for theory and methods in the empirical study of sound symbolism and iconicity.

Abstract

Background Sanger sequencing, still the standard technique for genetic testing in most diagnostic laboratories and until recently widely used in research, is gradually being complemented by next-generation sequencing (NGS). No single mutation detection technique is however perfect in identifying all mutations. Therefore, we wondered to what extent inconsistencies between Sanger sequencing and NGS affect the molecular diagnosis of patients. Since mutations in SCN1A, the major gene implicated in epilepsy, are found in the majority of Dravet syndrome (DS) patients, we focused on missed SCN1A mutations. Methods We sent out a survey to 16 genetic centers performing SCN1A testing. Results We collected data on 28 mutations initially missed using Sanger sequencing. All patients were falsely reported as SCN1A mutation-negative, both due to technical limitations and human errors. Conclusion We illustrate the pitfalls of Sanger sequencing and most importantly provide evidence that SCN1A mutations are an even more frequent cause of DS than already anticipated.

Abstract

Relationships among laurasiatherian clades represent one of the most highly disputed topics in mammalian phylogeny. In this study, we attempt to disentangle laurasiatherian interordinal relationships using two independent genome-level approaches: (1) quantifying retrotransposon presence/absence patterns, and (2) comparisons of exon datasets at the levels of nucleotides and amino acids. The two approaches revealed contradictory phylogenetic signals, possibly due to a high level of ancestral incomplete lineage sorting. The positions of Eulipotyphla and Chiroptera as the first and second earliest divergences were consistent across the approaches. However, the phylogenetic relationships of Perissodactyla, Cetartiodactyla, and Ferae, were contradictory. While retrotransposon insertion analyses suggest a clade with Cetartiodactyla and Ferae, the exon dataset favoured Cetartiodactyla and Perissodactyla. Future analyses of hitherto unsampled laurasiatherian lineages and synergistic analyses of retrotransposon insertions, exon and conserved intron/intergenic sequences might unravel the conflicting patterns of relationships in this major mammalian clade.

Abstract

People readily generalize knowledge to novel domains and stimuli. We present a theory, instantiated in a computational model, based on the idea that cross-domain generalization in humans is a case of analogical inference over structured (i.e., symbolic) relational representations. The model is an extension of the Learning and Inference with Schemas and Analogy (LISA; Hummel & Holyoak, 1997, 2003) and Discovery of Relations by Analogy (DORA; Doumas et al., 2008) models of relational inference and learning. The resulting model learns both the content and format (i.e., structure) of relational representations from nonrelational inputs without supervision, when augmented with the capacity for reinforcement learning it leverages these representations to learn about individual domains, and then generalizes to new domains on the first exposure (i.e., zero-shot learning) via analogical inference. We demonstrate the capacity of the model to learn structured relational representations from a variety of simple visual stimuli, and to perform cross-domain generalization between video games (Breakout and Pong) and between several psychological tasks. We demonstrate that the model’s trajectory closely mirrors the trajectory of children as they learn about relations, accounting for phenomena from the literature on the development of children’s reasoning and analogy making. The model’s ability to generalize between domains demonstrates the flexibility afforded by representing domains in terms of their underlying relational structure, rather than simply in terms of the statistical relations between their inputs and outputs.

Abstract

Reading and writing are crucial life skills but roughly one in ten children are affected by dyslexia, which can persist into adulthood. Family studies of dyslexia suggest heritability up to 70%, yet few convincing genetic markers have been found. Here we performed a genome-wide association study of 51,800 adults self-reporting a dyslexia diagnosis and 1,087,070 controls and identified 42 independent genome-wide significant loci: 15 in genes linked to cognitive ability/educational attainment, and 27 new and potentially more specific to dyslexia. We validated 23 loci (13 new) in independent cohorts of Chinese and European ancestry. Genetic etiology of dyslexia was similar between sexes, and genetic covariance with many traits was found, including ambidexterity, but not neuroanatomical measures of language-related circuitry. Dyslexia polygenic scores explained up to 6% of variance in reading traits, and might in future contribute to earlier identification and remediation of dyslexia.

Abstract

We previously reported an association with a putative functional variant in the ADAMTSL3 gene, just below genome-wide significance in a genome-wide association study of schizophrenia. As variants impacting the function of ADAMTSL3 (a disintegrin-like and metalloprotease domain with thrombospondin type I motifs-like-3) could illuminate a novel disease mechanism and a potentially specific target, we have used complementary approaches to further evaluate the association. We imputed genotypes and performed high density association analysis using data from the HapMap and 1000 genomes projects. To review all variants that could potentially cause the association, and to identify additional possible pathogenic rare variants, we sequenced ADAMTSL3 in 92 schizophrenics. A total of 71 ADAMTSL3 variants were identified by sequencing, many were also seen in the 1000 genomes data, but 26 were novel. None of the variants identified by re-sequencing was in strong linkage disequilibrium (LD) with the associated markers. Imputation analysis refined association between ADAMTSL3 and schizophrenia, and highlighted additional common variants with similar levels of association. We evaluated the functional consequences of all variants identified by sequencing, or showing direct or imputed association. The strongest evidence for function remained with the originally associated variant, rs950169, suggesting that this variant may be causal of the association. Rare variants were also identified with possible functional impact. Our study confirms ADAMTSL3 as a candidate for further investigation in schizophrenia, using the variants identified here. The utility of imputation analysis is demonstrated, and we recommend wider use of this method to re-evaluate the existing canon of suggestive schizophrenia associations.

Abstract

We here demonstrate that face-to-face spatial orientation induces a special ‘social mode’ for neurocognitive processing during conversation, even in the absence of visibility. Participants conversed face-to-face, face-to-face but visually occluded, and back-to-back to tease apart effects caused by seeing visual communicative signals and by spatial orientation. Using dual-EEG, we found that 1) listeners’ brains engaged more strongly while conversing in face-to-face than back-to-back, irrespective of the visibility of communicative signals, 2) listeners attended to speech more strongly in a back-to-back compared to a face-to-face spatial orientation without visibility; visual signals further reduced the attention needed; 3) the brains of interlocutors were more in sync in a face-to-face compared to a back-to-back spatial orientation, even when they could not see each other; visual signals further enhanced this pattern. Communicating in face-to-face spatial orientation is thus sufficient to induce a special ‘social mode’ which fine-tunes the brain for neurocognitive processing in conversation.

Abstract

Reduced forms like yeshay for yesterday often occur in conversations. Previous behavioral research reported a processing advantage for full over reduced forms. The present study investigated whether this processing advantage is reflected in a modulation of alpha (8–12 Hz) and gamma (30+ Hz) band activity. In three electrophysiological experiments, participants listened to full and reduced forms in isolation (Experiment 1), sentence-final position (Experiment 2), or mid-sentence position (Experiment 3). Alpha power was larger in response to reduced forms than to full forms, but only in Experiments 1 and 2. We interpret these increases in alpha power as reflections of higher auditory cognitive load. In all experiments, gamma power only increased in response to full forms, which we interpret as showing that lexical activation spreads more quickly through the semantic network for full than for reduced forms. These results confirm a processing advantage for full forms, especially in non-medial sentence position.

Abstract

The cortical regions of the brain traditionally associated with the comprehension of language are Wernicke's area and Broca's area. However, recent evidence suggests that other brain regions might also be involved in this complex process. This paper describes the opportunity to evaluate a large number of brain-injured patients to determine which lesioned brain areas might affect language comprehension. Sixty-four chronic left hemisphere stroke patients were evaluated on 11 subtests of the Curtiss–Yamada Comprehensive Language Evaluation – Receptive (CYCLE-R; Curtiss, S., & Yamada, J. (1988). Curtiss–Yamada Comprehensive Language Evaluation. Unpublished test, UCLA). Eight right hemisphere stroke patients and 15 neurologically normal older controls also participated. Patients were required to select a single line drawing from an array of three or four choices that best depicted the content of an auditorily-presented sentence. Patients' lesions obtained from structural neuroimaging were reconstructed onto templates and entered into a voxel-based lesion-symptom mapping (VLSM; Bates, E., Wilson, S., Saygin, A. P., Dick, F., Sereno, M., Knight, R. T., & Dronkers, N. F. (2003). Voxel-based lesion-symptom mapping. Nature Neuroscience, 6(5), 448–450.) analysis along with the behavioral data. VLSM is a brain–behavior mapping technique that evaluates the relationships between areas of injury and behavioral performance in all patients on a voxel-by-voxel basis, similar to the analysis of functional neuroimaging data. Results indicated that lesions to five left hemisphere brain regions affected performance on the CYCLE-R, including the posterior middle temporal gyrus and underlying white matter, the anterior superior temporal gyrus, the superior temporal sulcus and angular gyrus, mid-frontal cortex in Brodmann's area 46, and Brodmann's area 47 of the inferior frontal gyrus. Lesions to Broca's and Wernicke's areas were not found to significantly alter language comprehension on this particular measure. Further analysis suggested that the middle temporal gyrus may be more important for comprehension at the word level, while the other regions may play a greater role at the level of the sentence. These results are consistent with those seen in recent functional neuroimaging studies and offer complementary data in the effort to understand the brain areas underlying language comprehension.

Abstract

There is ample evidence that native and non-native listeners use lexical knowledge to retune their native phonetic categories following ambiguous pronunciations. The present study investigates whether a non-native ambiguous sound can retune non-native phonetic categories. After a brief exposure to an ambiguous British English [l/ɹ] sound, Dutch listeners demonstrated retuning. This retuning was, however, asymmetrical: the non-native listeners seemed to show (more) retuning of the /ɹ/ category than of the /l/ category, suggesting that non-native listeners can retune non-native phonetic categories. This asymmetry is argued to be related to the large phonetic variability of /r/ in both Dutch and English.

Abstract

This paper describes the different kinds of nominalizations and the main forms used in subordination in Awetí, a Tupian language spoken by ca. 150 people in central Bra-zil in the Upper Xingu area. Awetí does not belong to, but is arguably the closest rela-tive of the well-known Tupí-Guaraní subfamily, the largest branch of the Tupí stock. In our analysis, subordination in Awetí is achieved by means of forms which may have developed from nominalizations, but which are synchronously possibly best classified as verbal moods, belonging into the verbal paradigm. On the other hand, nouns (and in particular nouns derived from verbs) often appear as predicates, especially in equality and cleft sentences.

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

The number of individuals affected by traumatic brain injury (TBI) is growing globally. TBIs may cause a range of physical, cognitive, and psychiatric deficits that can negatively impact employment, academic attainment, community independence, and interpersonal relationships. Although there has been a significant decrease in the number of injury related deaths over the past several decades, there has been no corresponding reduction in injury related disability over the same time period. We propose that patient registries with large, representative samples and rich multidimensional and longitudinal data have tremendous value in advancing basic and translational research and in capturing, characterizing, and predicting individual differences in deficit profile and outcomes. Patient registries, together with recent theoretical and methodological advances in analytic approaches and neuroscience, provide powerful tools for brain injury research and for leveraging the heterogeneity that has traditionally been cited as a barrier inhibiting progress in treatment research and clinical practice. We report on our experiences, and challenges, in developing and maintaining our own patient registry. We conclude by pointing to some future opportunities for discovery that are afforded by a registry model.

Abstract

Motricity is the most commonly affected ability after a stroke. While many clinical studies attempt to predict motor symptoms at different chronic time points after a stroke, longitudinal acute-to-chronic studies remain scarce. Taking advantage of recent advances in mapping brain disconnections, we predict motor outcomes in 62 patients assessed longitudinally two weeks, three months, and one year after their stroke. Results indicate that brain disconnection patterns accurately predict motor impairments. However, disconnection patterns leading to impairment differ between the three-time points and between left and right motor impairments. These results were cross-validated using resampling techniques. In sum, we demonstrated that while some neuroplasticity mechanisms exist changing the structure–function relationship, disconnection patterns prevail when predicting motor impairment at different time points after stroke.

Abstract

Understanding cetacean distribution is essential for conservation planning and decision-making, particularly in regions subject to rapid environmental changes. Nevertheless, information on their spatiotemporal distribution is commonly limited, especially from remote areas. Species distribution models (SDMs) are powerful tools, relating species occurrences to environmental variables to predict the species' potential distribution. This study aims at using presence-only SDMs (MaxEnt) to identify suitable habitats for fin whales (Balaenoptera physalus) on their Nordic and Barents Seas feeding grounds. We used spatial-block cross-validation to tune MaxEnt parameters and evaluate model performance using spatially independent testing data. We considered spatial sampling bias correction using four methods. Important environmental variables were distance to shore and sea ice edge, variability of sea surface temperature and sea surface salinity, and depth. Suitable fin whale habitats were predicted along the west coast of Svalbard, between Svalbard and the eastern Norwegian Sea, coastal areas off Iceland and southern East Greenland, and along the Knipovich Ridge to Jan Mayen. Results support that presence-only SDMs are effective tools to predict cetacean habitat suitability, particularly in remote areas like the Arctic Ocean. SDMs constitute a cost-effective method for targeting future surveys and identifying top priority sites for conservation measures.

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

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

The Core Trustworthy Data Repository Requirements were developed by the DSA–WDS Partnership Working Group on Repository Audit and Certification, a Working Group (WG) of the Research Data Alliance . The goal of the effort was to create a set of harmonized common requirements for certification of repositories at the core level, drawing from criteria already put in place by the Data Seal of Approval (DSA: www.datasealofapproval.org) and the ICSU World Data System (ICSU-WDS: https://www.icsu-wds.org/services/certification). An additional goal of the project was to develop common procedures to be implemented by both DSA and ICSU-WDS. Ultimately, the DSA and ICSU-WDS plan to collaborate on a global framework for repository certification that moves from the core to the extended (nestor-Seal DIN 31644), to the formal (ISO 16363) level.

Abstract

It is often argued that narratives improve social cognition, either by appealing to social-cognitive abilities as we engage with the story world and its characters, or by conveying social knowledge. Empirical studies have found support for both a correlational and a causal link between exposure to (literary, fictional) narratives and social cognition. However, a series of failed replications has cast doubt on the robustness of these claims. Here, we review the existing empirical literature and identify open questions and challenges. An important conclusion of the review is that previous research has given too little consideration to the diversity of narratives, readers, and social-cognitive processes involved in the social-cognitive potential of narratives. We therefore establish a research agenda, proposing that future research should focus on (1) the specific text characteristics that drive the social-cognitive potential of narratives, (2) the individual differences between readers with respect to their sensitivity to this potential, and (3) the various aspects of social cognition that are potentially affected by reading narratives. Our recommendations can guide the design of future studies that will help us understand how, for whom, and in what respect exposure to narratives can advantage social cognition.

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

We present a dataset of behavioural and fMRI observations acquired in the context of humans involved in multimodal referential communication. The dataset contains audio/video and motion-tracking recordings of face-to-face, task-based communicative interactions in Dutch, as well as behavioural and neural correlates of participants’ representations of dialogue referents. Seventy-one pairs of unacquainted participants performed two interleaved interactional tasks in which they described and located 16 novel geometrical objects (i.e., Fribbles) yielding spontaneous interactions of about one hour. We share high-quality video (from three cameras), audio (from head-mounted microphones), and motion-tracking (Kinect) data, as well as speech transcripts of the interactions. Before and after engaging in the face-to-face communicative interactions, participants’ individual representations of the 16 Fribbles were estimated. Behaviourally, participants provided a written description (one to three words) for each Fribble and positioned them along 29 independent conceptual dimensions (e.g., rounded, human, audible). Neurally, fMRI signal evoked by each Fribble was measured during a one-back working-memory task. To enable functional hyperalignment across participants, the dataset also includes fMRI measurements obtained during visual presentation of eight animated movies (35 minutes total). We present analyses for the various types of data demonstrating their quality and consistency with earlier research. Besides high-resolution multimodal interactional data, this dataset includes different correlates of communicative referents, obtained before and after face-to-face dialogue, allowing for novel investigations into the relation between communicative behaviours and the representational space shared by communicators. This unique combination of data can be used for research in neuroscience, psychology, linguistics, and beyond.

Abstract

The use of spoken and written language is a fundamental human capacity. Individual differences in reading- and language-related skills are influenced by genetic variation, with twin-based heritability estimates of 30 to 80% depending on the trait. The genetic architecture is complex, heterogeneous, and multifactorial, but investigations of contributions of single-nucleotide polymorphisms (SNPs) were thus far underpowered. We present a multicohort genome-wide association study (GWAS) of five traits assessed individually using psychometric measures (word reading, nonword reading, spelling, phoneme awareness, and nonword repetition) in samples of 13,633 to 33,959 participants aged 5 to 26 y. We identified genome-wide significant association with word reading (rs11208009, P = 1.098 × 10−8) at a locus that has not been associated with intelligence or educational attainment. All five reading-/language-related traits showed robust SNP heritability, accounting for 13 to 26% of trait variability. Genomic structural equation modeling revealed a shared genetic factor explaining most of the variation in word/nonword reading, spelling, and phoneme awareness, which only partially overlapped with genetic variation contributing to nonword repetition, intelligence, and educational attainment. A multivariate GWAS of word/nonword reading, spelling, and phoneme awareness maximized power for follow-up investigation. Genetic correlation analysis with neuroimaging traits identified an association with the surface area of the banks of the left superior temporal sulcus, a brain region linked to the processing of spoken and written language. Heritability was enriched for genomic elements regulating gene expression in the fetal brain and in chromosomal regions that are depleted of Neanderthal variants. Together, these results provide avenues for deciphering the biological underpinnings of uniquely human traits.

Abstract

Migraine is a common disabling neurovascular brain disorder typically characterised by attacks of severe headache and associated with autonomic and neurological symptoms. Migraine is caused by an interplay of genetic and environmental factors. Genome-wide association studies (GWAS) have identified over a dozen genetic loci associated with migraine. Here, we integrated migraine GWAS data with high-resolution spatial gene expression data of normal adult brains from the Allen Human Brain Atlas to identify specific brain regions and molecular pathways that are possibly involved in migraine pathophysiology. To this end, we used two complementary methods. In GWAS data from 23,285 migraine cases and 95,425 controls, we first studied modules of co-expressed genes that were calculated based on human brain expression data for enrichment of genes that showed association with migraine. Enrichment of a migraine GWAS signal was found for five modules that suggest involvement in migraine pathophysiology of: (i) neurotransmission, protein catabolism and mitochondria in the cortex; (ii) transcription regulation in the cortex and cerebellum; and (iii) oligodendrocytes and mitochondria in subcortical areas. Second, we used the high-confidence genes from the migraine GWAS as a basis to construct local migraine-related co-expression gene networks. Signatures of all brain regions and pathways that were prominent in the first method also surfaced in the second method, thus providing support that these brain regions and pathways are indeed involved in migraine pathophysiology.

Abstract

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

Abstract

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

Abstract

This article 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

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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

The brain has the extraordinary capacity to construct predictive models of the environment by internalizing statistical regularities in the sensory inputs. The resulting sensory expectations shape how we perceive and react to the world; at the neural level, this relates to decreased neural responses to expected than unexpected stimuli (‘expectation suppression’). Crucially, expectations may need revision as context changes. However, existing research has often neglected this issue. Further, it is unclear whether contextual revisions apply selectively to expectations relevant to the task at hand, hence serving adaptive behaviour. The present fMRI study examined how contextual visual expectations spread throughout the cortical hierarchy as participants update their beliefs. We created a volatile environment with two state spaces presented over separate contexts and controlled by an independent contextualizing signal. Participants attended a training session before scanning to learn contextual temporal associations among pairs of object images. The fMRI experiment then tested for the emergence of contextual expectation suppression in two separate tasks, respectively with task-relevant and task-irrelevant expectations. Behavioural and neural effects of contextual expectation emerged progressively across the cortical hierarchy as participants attuned themselves to the context: expectation suppression appeared first in the insula, inferior frontal gyrus and posterior parietal cortex, followed by the ventral visual stream, up to early visual cortex. This applied selectively to task-relevant expectations. Taken together, the present results suggest that an insular and frontoparietal executive control network may guide the flexible deployment of contextual sensory expectations for adaptive behaviour in our complex and dynamic world.

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

Cognitive functional neuroimaging has been around for over 30 years and has shed light on the brain areas relevant for reading. However, new methodological developments enable mapping the interaction between functional imaging and the underlying white matter networks. In this study, we used such a novel method, called the disconnectome, to decode the reading circuitry in the brain. We used the resulting disconnection patterns to predict a typical lesion that would lead to reading deficits after brain damage. Our results suggest that white matter connections critical for reading include fronto-parietal U-shaped fibres and the vertical occipital fasciculus (VOF). The lesion most predictive of a reading deficit would impinge on the left temporal, occipital, and inferior parietal gyri. This novel framework can systematically be applied to bridge the gap between the neuropathology of language and cognitive neuroscience.

Abstract

Inter-individual differences can inform treatment procedures and—if accounted for—have the potential to significantly improve patient outcomes. However, when studying brain anatomy, these inter-individual variations are commonly unaccounted for, despite reports of differences in gross anatomical features, cross-sectional, and connectional anatomy. Brain connections are essential to facilitate functional organization and, when severed, cause impairments or complete loss of function. Hence, the study of cerebral white matter may be an ideal compromise to capture inter-individual variability in structure and function. We reviewed the wealth of studies that associate cognitive functions and clinical symptoms with individual tracts using diffusion tractography. Our systematic review indicates that tractography has proven to be a sensitive method in neurology, psychiatry, and healthy populations to identify variability and its functional correlates. However, the literature may be biased, as the most commonly studied tracts are not necessarily those with the highest sensitivity to cognitive functions and pathologies. Additionally, the hemisphere of the studied tract is often unreported, thus neglecting functional laterality and asymmetries. Finally, we demonstrate that tracts, as we define them, are not correlated with one, but multiple cognitive domains or pathologies. While our systematic review identified some methodological caveats, it also suggests that tract–function correlations might still be a promising tool in identifying biomarkers for precision medicine. They can characterize variations in brain anatomy, differences in functional organization, and predicts resilience and recovery in patients.

Abstract

Progress in genome sequencing now enables the large-scale generation of reference genomes. Various international initiatives aim to generate reference genomes representing global biodiversity. These genomes provide unique insights into genomic diversity and architecture, thereby enabling comprehensive analyses of population and functional genomics, and are expected to revolutionize conservation genomics.

Abstract

The cognate effect refers to translation equivalents with similar form between languages—i.e., cognates, such as “band” (English) and “banda” (Spanish)—being processed faster than words with dissimilar forms—such as, “cloud” and “nube.” Substantive literature supports this claim, but is mostly based on orthographic similarity and tested in the visual modality. In a previous study, we found an inhibitory orthographic similarity effect in the auditory modality—i.e., greater orthographic similarity led to slower response times and reduced accuracy. The aim of the present study is to explain this effect. In doing so, we explore the role of the speaker's accent in auditory word recognition and whether native accents lead to a mismatch between the participants' phonological representation and the stimulus. Participants carried out a lexical decision task and a typing task in which they spelled out the word they heard. Words were produced by two speakers: one with a native English accent (Standard American) and the other with a non-native accent matching that of the participants (native Spanish speaker from Spain). We manipulated orthographic and phonological similarity orthogonally and found that accent did have some effect on both response time and accuracy as well as modulating the effects of similarity. Overall, the non-native accent improved performance, but it did not fully explain why high orthographic similarity items show an inhibitory effect in the auditory modality. Theoretical implications and future directions are discussed.

Abstract

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

Abstract

Delineating the association of age and cortical thickness in healthy individuals is critical given the association of cortical thickness with cognition and behavior. Previous research has shown that robust estimates of the association between age and brain morphometry require large‐scale studies. In response, we used cross‐sectional data from 17,075 individuals aged 3–90 years from the Enhancing Neuroimaging Genetics through Meta‐Analysis (ENIGMA) Consortium to infer age‐related changes in cortical thickness. We used fractional polynomial (FP) regression to quantify the association between age and cortical thickness, and we computed normalized growth centiles using the parametric Lambda, Mu, and Sigma method. Interindividual variability was estimated using meta‐analysis and one‐way analysis of variance. For most regions, their highest cortical thickness value was observed in childhood. Age and cortical thickness showed a negative association; the slope was steeper up to the third decade of life and more gradual thereafter; notable exceptions to this general pattern were entorhinal, temporopolar, and anterior cingulate cortices. Interindividual variability was largest in temporal and frontal regions across the lifespan. Age and its FP combinations explained up to 59% variance in cortical thickness. These results may form the basis of further investigation on normative deviation in cortical thickness and its significance for behavioral and cognitive outcomes.

Abstract

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

Abstract

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

Abstract

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

Abstract

The current study investigates whether self-talk phrases can influence behavior in Ultimatum Games. In our three self-talk treatments, participants were instructed to tell themselves (i) to keep their own interests in mind, (ii) to also think of the other person, or (iii) to take some time to contemplate their decision. We investigate how such so-called experimenter-determined strategic self-talk phrases affect behavior and emotions in comparison to a control treatment without instructed self-talk. The results demonstrate that other-focused self-talk can nudge proposers towards fair behavior, as offers were higher in this group than in the other conditions. For responders, self-talk tended to increase acceptance rates of unfair offers as compared to the condition without self-talk. This effect is significant for both other-focused and contemplation-inducing self-talk but not for self-focused self-talk. In the self-focused condition, responders were most dissatisfied with unfair offers. These findings suggest that use of self-talk can increase acceptance rates in responders, and that focusing on personal interests can undermine this effect as it negatively impacts the responders’ emotional experience. In sum, our study shows that strategic self-talk interventions can be used to affect behavior in bargaining situations.

Abstract

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

Abstract

Since the discovery that rhythmic abilities are universal in humans, temporal features of vocal communication have greatly interested researchers studying animal communication. Rhythmic patterns are a valuable tool for species discrimination, mate choice, and individual recognition. A recent study showed that bird songs and human music share rhythmic categories when a signal's temporal intervals are distributed categorically rather than uniformly. Following that study, we aimed to investigate whether songs of indris (Indri indri), the only singing lemur, may show similar features. We measured the inter-onset intervals (tk), delimited by the onsets of two consecutive units, and the rhythmic ratios between these intervals (rk), calculated by dividing an interval by itself plus its adjacent, and finded a three-cluster distribution. Two clusters corresponded to rhythmic categories at 1:1 and 1:2, and the third approached a 2:1 ratio. Our results demonstrated for the first time that another primate besides humans produces categorical rhythms, an ability likely evolved convergently among singing species such as songbirds, indris, and humans. Understanding which communicative features are shared with other species is fundamental to understanding how they have evolved. In this regard, thanks to the simplicity of data processing and interpretation, our study relied on an accessible analytical approach that could open up new branches of the investigation into primate communication, leading the way to reconstruct a phylogeny of rhythm abilities across the entire order.

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

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

Whether reading in different writing systems recruits language-unique or language-universal neural processes is a long-standing debate. Many studies have shown the left arcuate fasciculus (AF) to be involved in phonological and reading processes. In contrast, little is known about the role of the right AF in reading, but some have suggested that it may play a role in visual spatial aspects of reading or the prosodic components of language. The right AF may be more important for reading in Chinese due to its logographic and tonal properties, but this hypothesis has yet to be tested. We recruited a group of Chinese-English bilingual children (8.2 to 12.0 years old) to explore the common and unique relation of reading skill in English and Chinese to fractional anisotropy (FA) in the bilateral AF. We found that both English and Chinese reading skills were positively correlated with FA in the rostral part of the left AF-direct segment. Additionally, English reading skill was positively correlated with FA in the caudal part of the left AF-direct segment, which was also positively correlated with phonological awareness. In contrast, Chinese reading skill was positively correlated with FA in certain segments of the right AF, which was positively correlated with visual spatial ability, but not tone discrimination ability. Our results suggest that there are language universal substrates of reading across languages, but that certain left AF nodes support phonological mechanisms important for reading in English, whereas certain right AF nodes support visual spatial mechanisms important for reading in Chinese.

Abstract

The COVID-19 pandemic has massively limited how linguists can collect data, and out of necessity, researchers across several disciplines have moved data collection online. Here we argue that the rising popularity of remote web-based experiments also provides an opportunity for widening the context of linguistic research by facilitating data collection from understudied populations. We discuss collecting production data from adult native speakers of Tagalog using an unsupervised web-based experiment. Compared to equivalent lab experiments, data collection went quicker, and the sample was more diverse, without compromising data quality. However, there were also technical and human issues that come with this method. We discuss these challenges and provide suggestions on how to overcome them.

Abstract

Western Austronesian languages have typologically rare but theoretically important voice systems that raise many questions about their learnability. While these languages have been featured prominently in the descriptive and typological literature, data on acquisition is sparse. In the current paper, we report on a variationist analysis of Tagalog child-directed speech using a newly collected corpus of caregiver-child interaction. We determined the constraints that condition voice use, voice selection, argument position, and thematic role assignment, thus providing the first quantitative analysis of verb argument structure variation in the language. We also examined whether children are sensitive to the constraints on variability. Our analyses showed that, despite the diversity of structures that children have to learn under Tagalog’s voice system, there are unique factors that strongly predict the speakers’ choice between the voice and word order alternations, with children’s choices related to structure alternations being similar to what is available in their input. The results thus suggest that input distributions provide many cues to the acquisition of the Tagalog voice system, making it eminently learnable despite its apparent complexity.

Abstract

Meta-analyses provide researchers with an overview of the body of evidence in a topic, with quantified estimates of effect sizes and the role of moderators, and weighting studies according to their precision. We provide a guide for conducting a transparent and reproducible meta-analysis in the field of developmental psychology within the framework of the MetaLab platform, in 10 steps: (1) Choose a topic for your meta-analysis, (2) Formulate your research question and specify inclusion criteria, (3) Preregister and document all stages of your meta-analysis, (4) Conduct the literature search, (5) Collect and screen records, (6) Extract data from eligible studies, (7) Read the data into analysis software and compute effect sizes, (8) Visualize your data, (9) Create meta-analytic models to assess the strength of the effect and investigate possible moderators, (10) Write up and promote your meta-analysis. Meta-analyses can inform future studies, through power calculations, by identifying robust methods and exposing research gaps. By adding a new meta-analysis to MetaLab, datasets across multiple topics of developmental psychology can be synthesized, and the dataset can be maintained as a living, community-augmented meta-analysis to which researchers add new data, allowing for a cumulative approach to evidence synthesis.

Abstract

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

Abstract

We present the first rhythm detection experiment using a Lindenmayer grammar, a self-similar recursive grammar shown previously to be learnable by adults using speech stimuli. Results show that learners were unable to correctly accept or reject grammatical and ungrammatical strings at the group level, although five (of 40) participants were able to do so with detailed instructions before the exposure phase.

Abstract

Understanding human white matter development is vital to characterize typical brain organization and developmental neurocognitive disorders. In this issue of Neuron, Nazeri and colleagues1 identify different parts of white matter in the neonatal brain and show their maturational trajectories in line with microstructural feature development.

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

Background

Reading and language skills have overlapping genetic bases, most of which are still unknown. Part of the missing heritability may be caused by copy number variants (CNVs).
Methods

In a dataset of children recruited for a history of reading disability (RD, also known as dyslexia) or attention deficit hyperactivity disorder (ADHD) and their siblings, we investigated the effects of CNVs on reading and language performance. First, we called CNVs with PennCNV using signal intensity data from Illumina OmniExpress arrays (~723,000 probes). Then, we computed the correlation between measures of CNV genomic burden and the first principal component (PC) score derived from several continuous reading and language traits, both before and after adjustment for performance IQ. Finally, we screened the genome, probe-by-probe, for association with the PC scores, through two complementary analyses: we tested a binary CNV state assigned for the location of each probe (i.e., CNV+ or CNV−), and we analyzed continuous probe intensity data using FamCNV.
Results

No significant correlation was found between measures of CNV burden and PC scores, and no genome-wide significant associations were detected in probe-by-probe screening. Nominally significant associations were detected (p~10−2–10−3) within CNTN4 (contactin 4) and CTNNA3 (catenin alpha 3). These genes encode cell adhesion molecules with a likely role in neuronal development, and they have been previously implicated in autism and other neurodevelopmental disorders. A further, targeted assessment of candidate CNV regions revealed associations with the PC score (p~0.026–0.045) within CHRNA7 (cholinergic nicotinic receptor alpha 7), which encodes a ligand-gated ion channel and has also been implicated in neurodevelopmental conditions and language impairment. FamCNV analysis detected a region of association (p~10−2–10−4) within a frequent deletion ~6 kb downstream of ZNF737 (zinc finger protein 737, uncharacterized protein), which was also observed in the association analysis using CNV calls.
Conclusions

These data suggest that CNVs do not underlie a substantial proportion of variance in reading and language skills. Analysis of additional, larger datasets is warranted to further assess the potential effects that we found and to increase the power to detect CNV effects on reading and language.