Publications

Abstract

To investigate how orthography and semantics interact during bilingual visual word recognition, Dutch–English bilinguals made lexical decisions in two masked priming experiments. Dutch primes and English targets were presented that were either neighbour cognates (boek – BOOK), noncognate translations (kooi – CAGE), orthographically related neighbours (neus – NEWS), or unrelated words (huid - COAT). Prime durations of 50 ms (Experiment 1) and 83 ms (Experiment 2) led to similar result patterns. Both experiments reported a large cognate facilitation effect, a smaller facilitatory noncognate translation effect, and the absence of inhibitory orthographic neighbour effects. These results indicate that cognate facilitation is in large part due to orthographic-semantic resonance. Priming results for each condition were simulated well (all r's >.50) by Multilink+, a recent computational model for word retrieval. Limitations to the role of lateral inhibition in bilingual word recognition are discussed.

Abstract

Age has a major effect on brain volume. However, the normative studies available are constrained by small sample sizes, restricted age coverage and significant methodological variability. These limitations introduce inconsistencies and may obscure or distort the lifespan trajectories of brain morphometry. In response, we capitalized on the resources of the Enhancing Neuroimaging Genetics through Meta‐Analysis (ENIGMA) Consortium to examine age‐related trajectories inferred from cross‐sectional measures of the ventricles, the basal ganglia (caudate, putamen, pallidum, and nucleus accumbens), the thalamus, hippocampus and amygdala using magnetic resonance imaging data obtained from 18,605 individuals aged 3–90 years. All subcortical structure volumes were at their maximum value early in life. The volume of the basal ganglia showed a monotonic negative association with age thereafter; there was no significant association between age and the volumes of the thalamus, amygdala and the hippocampus (with some degree of decline in thalamus) until the sixth decade of life after which they also showed a steep negative association with age. The lateral ventricles showed continuous enlargement throughout the lifespan. Age was positively associated with inter‐individual variability in the hippocampus and amygdala and the lateral ventricles. These results were robust to potential confounders and could be used to examine the functional significance of deviations from typical age‐related morphometric patterns.

Abstract

Adherence to medications is an important indicator of the quality of medication management and impacts on health outcomes and cost-effectiveness of healthcare delivery. Electronic healthcare data (EHD) are increasingly used to estimate adherence in research and clinical practice, yet standardization and transparency of data processing are still a concern. Comprehensive and flexible open-source algorithms can facilitate the development of high-quality, consistent, and reproducible evidence in this field. Some EHD-based clinical decision support systems (CDSS) include visualization of medication histories, but this is rarely integrated in adherence analyses and not easily accessible for data exploration or implementation in new clinical settings. We introduce AdhereR, a package for the widely used open-source statistical environment R, designed to support researchers in computing EHD-based adherence estimates and in visualizing individual medication histories and adherence patterns. AdhereR implements a set of functions that are consistent with current adherence guidelines, definitions and operationalizations. We illustrate the use of AdhereR with an example dataset of 2-year records of 100 patients and describe the various analysis choices possible and how they can be adapted to different health conditions and types of medications. The package is freely available for use and its implementation facilitates the integration of medication history visualizations in open-source CDSS platforms.

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

Based on their longitudinal analysis of the acquisition of Dutch, English, French, and German, Klein and Perdue (1997) described a “basic learner variety” as valid cross-linguistically and comprising a limited number of shared syntactic patterns interacting with two types of constraints: (a) semantic—the NP whose referent has highest control comes first, and (b) pragmatic—the focus expression is in final position. These authors hypothesized that “the topic-focus structure also plays an important role in some other respects. . . . Thus, negation and (other) scope particles occur at the topic-focus boundary” (p. 318). This poses the problem of the interaction between the core organizational principles of the basic variety and optional items such as negative particles and scope particles, which semantically affect the whole or part of the utterance in which they occur. In this article, we test the validity of these authors' hypothesis for the acquisition of the additive scope particle also (and its translation equivalents). Our analysis is based on the European Science Foundation (ESF) data originally used to define the basic variety, but we also included some more advanced learner data from the same database. In doing so, we refer to the analyses of Dimroth and Klein (1996), which concern the interaction between scope particles and the part of the utterance they affect, and we make a distinction between maximal scope—that which is potentially affected by the particle—and the actual scope of a particle in relation to an utterance in a given discourse context

Abstract

Als je wereldwijd gesprekken beluistert, merk je dat de menselijke dialoog universele regels volgt. Die sturen en verrijken onze sociale interactie.

Abstract

Continuers —words like mm, mmhm, uhum and the like— are among the most frequent types of responses in conversation. They play a key role in joint action coordination by showing positive evidence of understanding and scaffolding narrative delivery. Here we investigate the hypothesis that their functional importance along with their conversational ecology places selective pressures on their form and may lead to cross-linguistic similarities through convergent cultural evolution. We compare continuer tokens in linguistically diverse conversational corpora and find languages make available highly similar forms. We then approach the causal mechanism of convergent cultural evolution using exemplar modelling, simulating the process by which a combination of effort minimization and functional specialization may push continuers to a particular region of phonological possibility space. By combining comparative linguistics and computational modelling we shed new light on the question of how language structure is shaped by and for social interaction.

Abstract

Informal social interaction is the primordial home of human language. Linguistically diverse conversational corpora are an important and largely untapped resource for computational linguistics and language technology. Through the efforts of a worldwide language documentation movement, such corpora are increasingly becoming available. We show how interactional data from 63 languages (26 families) harbours insights about turn-taking, timing, sequential structure and social action, with implications for language technology, natural language understanding, and the design of conversational interfaces. Harnessing linguistically diverse conversational corpora will provide the empirical foundations for flexible, localizable, humane language technologies of the future.

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

In conversation, people have to deal with problems of speaking, hearing, and understanding. We report on a cross-linguistic investigation of the conversational structure of other-initiated repair (also known as collaborative repair, feedback, requests for clarification, or grounding sequences). We take stock of formats for initiating repair across languages (comparable to English huh?, who?, y’mean X?, etc.) and find that different languages make available a wide but remarkably similar range of linguistic resources for this function. We exploit the patterned variation as evidence for several underlying concerns addressed by repair initiation: characterising trouble, managing responsibility, and handling knowledge. The concerns do not always point in the same direction and thus provide participants in interaction with alternative principles for selecting one format over possible others. By comparing conversational structures across languages, this paper contributes to pragmatic typology: the typology of systems of language use and the principles that shape them

Abstract

Ideophones are found in many of the world’s languages. Though they are a major word class on a par with nouns and verbs, their origins are ill-understood, and the question of ideophone creation has been a source of controversy. This paper studies ideophone creation in naturally occurring speech. New, unconventionalised ideophones are identified using native speaker judgements, and are studied in context to understand the rules and regularities underlying their production and interpretation. People produce and interpret new ideophones with the help of the semiotic infrastructure that underlies the use of existing ideophones: foregrounding frames certain stretches of speech as depictive enactments of sensory imagery, and various types of iconicity link forms and meanings. As with any creative use of linguistic resources, context and common ground also play an important role in supporting rapid ‘good enough’ interpretations of new material. The making of new ideophones is a special case of a more general phenomenon of creative depiction: the art of presenting verbal material in such a way that the interlocutor recognises and interprets it as a depiction.

Abstract

Recent developments in the science of language signal the emergence of a new paradigm for language study: a social approach to the fundamental questions of what language is like, how much languages really have in common, and why only our species has it. The key to these developments is a new appreciation of the need to study everyday spoken language, with all its complications and ‘imperfections’, in a systematic way. The work reviewed in this article —on turn-taking, timing, and other-initiated repair in languages around the world— has important implications for our understanding of human sociality and sheds new light on the social shape of language. For the first time in the history of linguistics, we are no longer tied to what can be written down or thought up. Rather, we look at language as a biologist would: as it occurs in nature.

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

People often talk about musical pitch using spatial metaphors. In English, for instance, pitches can be “high” or “low” (i.e., height-pitch association), whereas in other languages, pitches are described as “thin” or “thick” (i.e., thickness-pitch association). According to results from psychophysical studies, metaphors in language can shape people’s nonlinguistic space-pitch representations. But does language establish mappings between space and pitch in the first place, or does it only modify preexisting associations? To find out, we tested 4-month-old Dutch infants’ sensitivity to height-pitch and thickness-pitch mappings using a preferential-looking paradigm. The infants looked significantly longer at cross-modally congruent stimuli for both space-pitch mappings, which indicates that infants are sensitive to these associations before language acquisition. The early presence of space-pitch mappings means that these associations do not originate from language. Instead, language builds on preexisting mappings, changing them gradually via competitive associative learning. Space-pitch mappings that are language-specific in adults develop from mappings that may be universal in infants.

Abstract

Numerous experiments show that space and musical pitch are
closely linked in people's minds. However, the exact nature of
space-pitch associations and their neuronal underpinnings are
not well understood. In an fMRI experiment we investigated
different types of spatial representations that may underlie
musical pitch. Participants judged stimuli that varied in
spatial height in both the visual and tactile modalities, as well
as auditory stimuli that varied in pitch height. In order to
distinguish between unimodal and multimodal spatial bases of
musical pitch, we examined whether pitch activations were
present in modality-specific (visual or tactile) versus
multimodal (visual and tactile) regions active during spatial
height processing. Judgments of musical pitch were found to
activate unimodal visual areas, suggesting that space-pitch
associations may involve modality-specific spatial
representations, supporting a key assumption of embodied
theories of metaphorical mental representation.

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

Abstract mental representation is fundamental for human cognition. Forming such representations in time, especially from dynamic and noisy perceptual input, is a challenge for any processing modality, but perhaps none so acutely as for language processing. We show that LISA (Hummel & Holyaok, 1997) and DORA (Doumas, Hummel, & Sandhofer, 2008), models built to process and to learn structured (i.e., symbolic) rep resentations of conceptual properties and relations from unstructured inputs, show oscillatory activation during processing that is highly similar to the cortical activity elicited by the linguistic stimuli from Ding et al.(2016). We argue, as Ding et al.(2016), that this activation reflects formation of hierarchical linguistic representation, and furthermore, that the kind of computational mechanisms in LISA/DORA (e.g., temporal binding by systematic asynchrony of firing) may underlie formation of abstract linguistic representations in the human brain. It may be this repurposing that allowed for the generation or mergence of hierarchical linguistic structure, and therefore, human language, from extant cognitive and neural systems. We conclude that models of thinking and reasoning and models of language processing must be integrated —not only for increased plausiblity, but in order to advance both fields towards a larger integrative model of human cognition

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 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

Previous studies have demonstrated that native listeners
modify their interpretation of a speech sound when a talker
produces an ambiguous sound in order to quickly tune into a
speaker, but there is hardly any evidence that non-native
listeners employ a similar mechanism when encountering
ambiguous pronunciations. So far, one study demonstrated
this lexically-guided perceptual learning effect for nonnatives,
using phoneme categories similar in the native
language of the listeners and the non-native language of the
stimulus materials. The present study investigates the question
whether phoneme category retuning is possible in a nonnative
language for a contrast, /l/-/r/, which is phonetically
differently embedded in the native (Dutch) and nonnative
(English) languages involved. Listening experiments indeed
showed a lexically-guided perceptual learning effect.
Assuming that Dutch listeners have different phoneme
categories for the native Dutch and non-native English /r/, as
marked differences between the languages exist for /r/, these
results, for the first time, seem to suggest that listeners are not
only able to retune their native phoneme categories but also
their non-native phoneme categories to include ambiguous
pronunciations.

Abstract

Listeners use their lexical knowledge to interpret ambiguous sounds, and retune their phonetic categories to include this ambiguous sound. Although there is ample evidence for lexically-guided retuning, the adaptation process is not fully understood. Using a lexical decision task with an embedded auditory semantic priming task, the present study investigates whether words containing an ambiguous sound are processed in the same way as “natural” words and whether adaptation to the ambiguous sound tends to equalize the processing of “ambiguous” and natural words. Analyses of the yes/no responses and reaction times to natural and “ambiguous” words showed that words containing an ambiguous sound were accepted as words less often and were processed slower than the same words without ambiguity. The difference in acceptance disappeared after exposure to approximately 15 ambiguous items. Interestingly, lower acceptance rates and slower processing did not have an effect on the processing of semantic information of the following word. However, lower acceptance rates of ambiguous primes predict slower reaction times of these primes, suggesting an important role of stimulus-specific characteristics in triggering lexically-guided perceptual learning.

Abstract

Since the late 1990s, the technical group at the Max-Planck-Institute for Psycholinguistics has worked on solutions for important challenges in building sustainable data archives, in particular, how to guarantee long-time-availability of digital research data for future research. The support for the well-known DOBES (Documentation of Endangered Languages) programme has greatly inspired and advanced this work, and lead to the ongoing development of a whole suite of tools for annotating, cataloguing and archiving multi-media data. At the core of the LAT (Language Archiving Technology) tools is the IMDI metadata schema, now being integrated into a larger network of digital resources in the European CLARIN project. The multi-media annotator ELAN (with its web-based cousin ANNEX) is now well known not only among documentary linguists. We aim at presenting an overview of the solutions, both achieved and in development, for creating and exploiting sustainable digital data, in particular in the area of documenting languages and cultures, and their interfaces with related other developments

Abstract

This study provides an answer to the question of how dictionaries should be read. For this purpose, articles taken from an outline for a Guaraní-German dictionary geared to established lexicographic practice are provided with standardized interpretations. Each article is systematically assigned a formal sentence making its meaning explicit both for content words (including polysemes) and functional words or affixes. Integrative Linguistics proves its theoretical and practical value both for the description of Guaraní (indigenous Indian language spoken in Paraguay, Argentina and Brazil) and in metalexicographic terms.

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

The Pioneers project seeks to uncover relationships between the Papuan languages of Island Melanesia. One basic way to uncover linguistic relationships, either contact or genetic, is through lexical comparison. We have seen very few shared words between our Papuan languages and any other languages, either Oceanic or Papuan, but most of the words which are shared are shared because they are commonly borrowed from Oceanic languages. This task is aimed at enabling fieldworkers to collect terms for inland bird and tree species. In the past it is has proved very difficult for non-experts to identify plant and bird species, so the task consists of a booklet of colour pictures of some of the more common species, with information on the range and habits of each species, as well as some information on their cultural uses, which should enable better identification. It is intended that fieldworkers will show this book to consultants and use it as an elicitation aid.

Abstract

This paper examines the effects of language standardization and orthography design on the Chukchi linguistic ecology. The process of standardisation has not taken into consideration the gender-based sociolects of colloquial Chukchi and is based on a grammaticaldescriptionwhich does not reflectactual Chukchi use; as a result standard Chukchi has not gained a place in the Chukchi language ecology. The Cyrillic orthography developed for Chukchi is also problematic as it is based on features of Russian phonology, rather than on Chukchi itself: this has meant that a knowledge of written Chukchi is dependent on a knowledge of the principles of Russian orthography. The aspects of language planning have had a large impact on the pre-existing Chukchi language ecology which has contributed to the obsolescence of the colloquial language.

Abstract

Genome wide complex trait analysis (GCTA) is extended to include environmental effects of the maternal genotype on offspring phenotype (“maternal effects”, M-GCTA). The model includes parameters for the direct effects of the offspring genotype, maternal effects and the covariance between direct and maternal effects. Analysis of simulated data, conducted in OpenMx, confirmed that model parameters could be recovered by full information maximum likelihood (FIML) and evaluated the biases that arise in conventional GCTA when indirect genetic effects are ignored. Estimates derived from FIML in OpenMx showed very close agreement to those obtained by restricted maximum likelihood using the published algorithm for GCTA. The method was also applied to illustrative perinatal phenotypes from ~4,000 mother-offspring pairs from the Avon Longitudinal Study of Parents and Children. The relative merits of extended GCTA in contrast to quantitative genetic approaches based on analyzing the phenotypic covariance structure of kinships are considered.

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

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

The most basic question for the study of morphology and the mental lexicon is whether or not words are _decomposed_: informally, this is the question of whether words are represented (and processed) in terms of some kind of smaller units; that is, broken down into constituent parts. Formally, what it means to represent or process a word as decomposed or not turns out to be quite complex. One of the basic lines of division in the field classifies approaches according to whether they decompose all “complex” words (“Full Decomposition”), or none (“Full Listing”), or some but not all, according to some criterion (typical of “Dual-Route” models). However, if we are correct, there are at least three senses in which an approach might be said to be decompositional or not, with the result that ongoing discussions of what appears to be a single large issue might not always be addressing the same distinction. Put slightly differently, there is no single question of decomposition. Instead, there are independent but related questions that define current research. Our goal here is to identify this finer-grained set of questions, as they are the ones that should assume a central place in the study of morphological and lexical representation.

Abstract

This Field Manual entry has been superceded by the 2007 version:
https://doi.org/10.17617/2.468728

Abstract

This chapter discusses some of the elements of human sociality that serve as the social and cognitive infrastructure or preconditions for the use of requests and other kinds of recruitments in interaction. The notion of an agent with goals is a canonical starting point, though importantly agency tends not to be wholly located in individuals, but rather is socially distributed. This is well illustrated in the case of requests, in which the person or group that has a certain goal is not necessarily the one who carries out the behavior towards that goal. The chapter focuses on the role of semiotic (mostly linguistic) resources in negotiating the distribution of agency with request-like actions, with examples from video-recorded interaction in Lao, a language spoken in Laos and nearby countries. The examples illustrate five hallmarks of requesting in human interaction, which show some ways in which our ‘manipulation’ of other people is quite unlike our manipulation of tools: (1) that even though B is being manipulated, B wants to help, (2) that while A is manipulating B now, A may be manipulated in return later; (3) that the goal of the behavior may be shared between A and B, (4) that B may not comply, or may comply differently than requested, due to actual or potential contingencies, and (5) that A and B are accountable to one another; reasons may be asked for, and/or given, for the request. These hallmarks of requesting are grounded in a prosocial framework of human agency.

Abstract

What causes a language to be the way it is? Some features are universal, some are inherited, others are borrowed, and yet others are internally innovated. But no matter where a bit of language is from, it will only exist if it has been diffused and kept in circulation through social interaction in the history of a community. This book makes the case that a proper understanding of the ontology of language systems has to be grounded in the causal mechanisms by which linguistic items are socially transmitted, in communicative contexts. A biased transmission model provides a basis for understanding why certain things and not others are likely to develop, spread, and stick in languages. Because bits of language are always parts of systems, we also need to show how it is that items of knowledge and behavior become structured wholes. The book argues that to achieve this, we need to see how causal processes apply in multiple frames or 'time scales' simultaneously, and we need to understand and address each and all of these frames in our work on language. This forces us to confront implications that are not always comfortable: for example, that "a language" is not a real thing but a convenient fiction, that language-internal and language-external processes have a lot in common, and that tree diagrams are poor conceptual tools for understanding the history of languages. By exploring avenues for clear solutions to these problems, this book suggests a conceptual framework for ultimately explaining, in causal terms, what languages are like and why they are like that.

Abstract

This Field Manual entry has been superceded by the 2007 version: https://doi.org/10.17617/2.468724

Abstract

The social world is an ecological complex in which cultural meanings and knowledges (linguistic and non-linguistic) personally embodied by individuals are intercalibrated via common attention to commonly accessible semiotic structures. This interpersonal ecology bridges realms which are the subject matter of both anthropology and linguistics, allowing the public maintenance of a system of assumptions and counter-assumptions among individuals as to what is mutually known (about), in general and/or in any particular context. The mutual assumption of particular cultural ideas provides human groups with common premises for predictably convergent inferential processes. This process of people collectively using effectively identical assumptions in interpreting each other's actions—i.e. hypothesizing as to each other's motivations and intentions—may be termed cultural logic. This logic relies on the establishment of stereotypes and other kinds of precedents, catalogued in individuals’ personal libraries, as models and scenarios which may serve as reference in inferring and attributing motivations behind people's actions, and behind other mysterious phenomena. This process of establishing conceptual convention depends directly on semiotics, since groups of individuals rely on external signs as material for common focus and, thereby, agreement. Social intelligence binds signs in the world (e.g. speech sounds impressing upon eardrums), with individually embodied representations (e.g. word meanings and contextual schemas). The innate tendency for people to model the intentions of others provides an ultimately biological account for the logic behind culture. Ethnographic examples are drawn from Laos and Australia.

Abstract

Acoustic reduction refers to the frequent phenomenon in conversational speech that words are produced with fewer or lenited segments compared to their citation forms. The few published studies on the production and comprehension of acoustic reduction have important implications for the debate on the relevance of abstractions and exemplars in speech processing. This article discusses these implications. It first briefly introduces the key assumptions of simple abstractionist and simple exemplar-based models. It then discusses the literature on acoustic reduction and draws the conclusion that both types of models need to be extended to explain all findings. The ultimate model should allow for the storage of different pronunciation variants, but also reserve an important role for phonetic implementation. Furthermore, the recognition of a highly reduced pronunciation variant requires top down information and leads to activation of the corresponding unreduced variant, the variant that reaches listeners’ consciousness. These findings are best accounted for in hybrids models, assuming both abstract representations and exemplars. None of the hybrid models formulated so far can account for all data on reduced speech and we need further research for obtaining detailed insight into how speakers produce and listeners comprehend reduced speech.

Abstract

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

Abstract

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

Abstract

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

Abstract

This article introduces a new speech corpus, the Nijmegen Corpus of Casual Czech (NCCCz), which contains more than 30 hours of high-quality recordings of casual conversations in Common Czech, among ten groups of three male and ten groups of three female friends. All speakers were native speakers of Czech, raised in Prague or in the region of Central Bohemia, and were between 19 and 26 years old. Every group of speakers consisted of one confederate, who was instructed to keep the conversations lively, and two speakers naive to the purposes of the recordings. The naive speakers were engaged in conversations for approximately 90 minutes, while the confederate joined them for approximately the last 72 minutes. The corpus was orthographically annotated by experienced transcribers and this orthographic transcription was aligned with the speech signal. In addition, the conversations were videotaped. This corpus can form the basis for all types of research on casual conversations in Czech, including phonetic research and research on how to improve automatic speech recognition. The corpus will be freely available

Abstract

We investigated the use of Hidden Markov Models (HMMs) as a way of representing repertoires of continuous signals in order to infer their building blocks. We tested the idea on a dataset from an artificial language experiment. The study demonstrates using HMMs for this purpose is viable, but also that there is a lot of room for refinement such as explicit duration modeling, incorporation of autoregressive elements and relaxing the Markovian assumption, in order to accommodate specific details.

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

When we have spoken conversations, it is usually in the context of competing sounds within our environment. Speech can be masked by many different kinds of sounds, for example, machinery noise and the speech of others, and these different sounds place differing demands on cognitive resources. In this talk, I will present data from a series of functional magnetic resonance imaging (fMRI) studies in which the informational properties of background sounds have been manipulated to make them more or less similar to speech. I will demonstrate the neural effects associated with speaking over and listening to these sounds, and demonstrate how in perception these effects are modulated by the age of the listener. The results will be interpreted within a framework of auditory processing developed from primate neurophysiology and human functional imaging work (Rauschecker and Scott 2009).

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

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.