Publications

Abstract

Some theorists posit the existence of a ‘core’ grammar that virtually all native speakers acquire, and a ‘peripheral’ grammar that many do not. We investigated the viability of such a categorical distinction in the Dutch language. We first consulted linguists’ intuitions as to the ‘core’ or ‘peripheral’ status of a wide range of grammatical structures. We then tested a selection of core- and peripheral-rated structures on naïve participants with varying levels of literacy experience, using grammaticality judgment as a proxy for receptive knowledge. Overall, participants demonstrated better knowledge of ‘core’ structures than ‘peripheral’ structures, but the considerable variability within these categories was strongly suggestive of a continuum rather than a categorical distinction between them. We also hypothesised that individual differences in the knowledge of core and peripheral structures would reflect participants’ literacy experience. This was supported only by a small trend in our data. The results fit best with the notion that more frequent syntactic structures are mastered by more people than infrequent ones and challenge the received sense of a categorical core-periphery distinction.

Abstract

Language comprehenders can use syntactic cues to generate predictions online about upcoming language. Previous research with reading-impaired adults and healthy, low-proficiency adult and child learners suggests that reading skills are related to prediction in spoken language comprehension. Here we investigated whether differences in literacy are also related to predictive spoken language processing in non-reading-impaired proficient adult readers with varying levels of literacy experience. Using the visual world paradigm enabled us to measure prediction based on syntactic cues in the spoken sentence, prior to the (predicted) target word. Literacy experience was found to be the strongest predictor of target anticipation, independent of general cognitive abilities. These findings suggest that a) experience with written language can enhance syntactic prediction of spoken language in normal adult language users, and b) processing skills can be transferred to related tasks (from reading to listening) if the domains involve similar processes (e.g., predictive dependencies) and representations (e.g., syntactic).

Abstract

‘Book language’ offers a richer linguistic experience than typical conversational speech in terms of its syntactic properties. Here, we investigated the role of long-term syntactic experience on syntactic knowledge and processing. In a pre-registered study with 161 adult native Dutch speakers with varying levels of literacy, we assessed the contribution of individual differences in written language experience to offline and online syntactic processes. Offline syntactic knowledge was assessed as accuracy in an auditory grammaticality judgment task in which we tested violations of four Dutch grammatical norms. Online syntactic processing was indexed by syntactic priming of the Dutch dative alternation, using a comprehension-to-production priming paradigm with auditory presentation. Controlling for the contribution of non-verbal IQ, verbal working memory, and processing speed, we observed a robust effect of literacy experience on the detection of grammatical norm violations in spoken sentences, suggesting that exposure to the syntactic complexity and diversity of written language has specific benefits for general (modality-independent) syntactic knowledge. We replicated previous results by finding robust comprehension-to-production structural priming, both with and without lexical overlap between prime and target. Although literacy experience affected the usage of syntactic alternates in our large sample, it did not modulate their priming. We conclude that amount of experience with written language increases explicit awareness of grammatical norm violations and changes the usage of (PO vs. DO) dative spoken sentences but has no detectable effect on their implicit syntactic priming in proficient language users. These findings constrain theories about the effect of long-term experience on syntactic processing.

Abstract

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

Abstract

Perceptual learning of novel accents is a critical skill for second-language speech perception, but little is known about the mechanisms that facilitate perceptual learning in communicative contexts. To study perceptual learning in an interactive dialogue setting while maintaining experimental control of the phonetic input, we employed an innovative experimental method incorporating prerecorded speech into a naturalistic conversation. Using both computer-based and face-to-face dialogue settings, we investigated the effect of two types of learning mechanisms in interaction: explicit corrective feedback and implicit lexical guidance. Dutch participants played an information-gap game featuring minimal pairs with an accented English speaker whose /ε/ pronunciations were shifted to /ɪ/. Evidence for the vowel shift came either from corrective feedback about participants’ perceptual mistakes or from onscreen lexical information that constrained their interpretation of the interlocutor’s words. Corrective feedback explicitly contrasting the minimal pairs was more effective than generic feedback. Additionally, both receiving lexical guidance and exhibiting more uptake for the vowel shift improved listeners’ subsequent online processing of accented words. Comparable learning effects were found in both the computer-based and face-to-face interactions, showing that our results can be generalized to a more naturalistic learning context than traditional computer-based perception training programs.

Abstract

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

Abstract

Learning a script with mirrored graphs (e.g., d ≠ b) requires overcoming the evolutionary-old perceptual tendency to process mirror images as equivalent. Thus, breaking mirror invariance offers an important tool for understanding cultural re-shaping of evolutionarily ancient cognitive mechanisms. Here we investigated the role of script (i.e., presence vs. absence of mirrored graphs: Latin alphabet vs. Tamil) by revisiting mirror-image processing by illiterate, Tamil monoliterate, and Tamil-Latin-alphabet bi-literate adults. Participants performed two same-different tasks (one orientation-based, another shape-based) on Latin-alphabet letters. Tamil monoliterate were significantly better than illiterate and showed good explicit mirror-image discrimination. However, only bi-literate adults fully broke mirror invariance: slower shape-based judgments for mirrored than identical pairs and reduced disadvantage in orientation-based over shape-based judgments of mirrored pairs. These findings suggest learning a script with mirrored graphs is the strongest force for breaking mirror invariance.

Abstract

To form a percept of the multisensory world, the brain needs to integrate signals from common sources weighted by their reliabilities and segregate those from independent sources. Previously, we have shown that anterior parietal cortices combine sensory signals into representations that take into account the signals’ causal structure (i.e., common versus independent sources) and their sensory reliabilities as predicted by Bayesian causal inference. The current study asks to what extent and how attentional mechanisms can actively control how sensory signals are combined for perceptual inference. In a pre- and postcueing paradigm, we presented observers with audiovisual signals at variable spatial disparities. Observers were precued to attend to auditory or visual modalities prior to stimulus presentation and postcued to report their perceived auditory or visual location. Combining psychophysics, functional magnetic resonance imaging (fMRI), and Bayesian modelling, we demonstrate that the brain moulds multisensory inference via two distinct mechanisms. Prestimulus attention to vision enhances the reliability and influence of visual inputs on spatial representations in visual and posterior parietal cortices. Poststimulus report determines how parietal cortices flexibly combine sensory estimates into spatial representations consistent with Bayesian causal inference. Our results show that distinct neural mechanisms control how signals are combined for perceptual inference at different levels of the cortical hierarchy.

Abstract

Dance is ubiquitous among humans and has received attention from several disciplines. Ethnographic documentation suggests that dance has a signaling function in social interaction. It can influence mate preferences and facilitate social bonds. Research has provided insights into the proximate mechanisms of dance, individually or when dancing with partners or in groups. Here, we review dance research from an evolutionary perspective. We propose that human dance evolved from ordinary (non-communicative) movements to communicate socially relevant information accurately. The need for accurate social signaling may have accompanied increases in group size and population density. Because of its complexity in production and display, dance may have evolved as a vehicle for expressing social and cultural information. Mating-related qualities and motives may have been the predominant information derived from individual dance movements, whereas group dance offers the opportunity for the exchange of socially relevant content, for coordinating actions among group members, for signaling coalitional strength, and for stabilizing group structures. We conclude that, despite the cultural diversity in dance movements and contexts, the primary communicative functions of dance may be the same across societies.

Abstract

Determining when a partner’s spoken or musical turn will end requires well-honed predictive abilities. Evidence suggests that our motor systems are activated during perception of both speech and music, and it has been argued that motor simulation is used to predict turn-ends across domains. Here we used a dual-task interference paradigm to investigate whether motor simulation of our partner’s action underlies our ability to make accurate turn-end predictions in speech and in music. Furthermore, we explored how specific this simulation is to the action being predicted. We conducted two experiments, one investigating speech turn-ends, and one investigating music turn-ends. In each, 34 proficient pianists predicted turn-endings while (1) passively listening, (2) producing an effector-specific motor activity (mouth/hand movement), or (3) producing a task- and effector-specific motor activity (mouthing words/fingering a piano melody). In the speech experiment, any movement during speech perception disrupted predictions of spoken turn-ends, whether the movement was task-specific or not. In the music experiment, only task-specific movement (i.e., fingering a piano melody) disrupted predictions of musical turn-ends. These findings support the use of motor simulation to make turn-end predictions in both speech and music but suggest that the specificity of this simulation may differ between domains.

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

This chapter highlights the research in isolating genetic factors underlying specific language impairment (SLI), or developmental dysphasia, which exploits newly developed genotyping technology, novel statistical methodology, and DNA sequence data generated by the Human Genome Project. The author begins with an overview of results from family, twin, and adoption studies supporting genetic involvement and then goes on to outline progress in a number of genetic mapping efforts that have been recently completed or are currently under way. It has been possible for genetic researchers to pinpoint the specific mutation responsible for some speech and language disorders, providing an example of how the availability of human genomic sequence data can greatly accelerate the pace of disease gene discovery. Finally, the author discusses future prospects on how molecular genetics may offer new insight into the etiology underlying speech and language disorders, leading to improvements in diagnosis and treatment.

Abstract

The human Xp11.23-p11.22 interval has been implicated in several inherited diseases including Wiskott-Aldrich syndrome; three forms of X-linked hypercalciuric nephrolithiaisis; and the eye disorders retinitis pigmentosa 2, congenital stationary night blindness, and Aland Island eye disease. In constructing YAC contigs spanning Xp11. 23-p11.22, we have previously shown that the region around the synaptophysin (SYP) gene is refractory to cloning in YACs, but highly stable in cosmids. Preliminary analysis of the latter suggested that this might reflect a high density of coding sequences and we therefore undertook the complete sequencing of a SYP-containing cosmid. Sequence data were extensively analyzed using computer programs such as CENSOR (to mask repeats), BLAST (for homology searches), and GRAIL and GENE-ID (to predict exons). This revealed the presence of 29 putative exons, organized into three genes, in addition to the 7 exons of the complete SYP coding region, all mapping within a 44-kb interval. Two genes are novel, one (CACNA1F) showing high homology to alpha1 subunits of calcium channels, the other (LMO6) encoding a product with significant similarity to LIM-domain proteins. RT-PCR and Northern blot studies confirmed that these loci are indeed transcribed. The third locus is the previously described, but not previously localized, A4 differentiation-dependent gene. Given that the intron-exon boundaries predicted by the analysis are consistent with previous information where available, we have been able to suggest the genomic organization of the novel genes with some confidence. The region has an elevated GC content (>53%), and we identified CpG islands associated with the 5' ends of SYP, A4, and LMO6. The order of loci was Xpter-A4-LMO6-SYP-CACNA1F-Xcen, with intergenic distances ranging from approximately 300 bp to approximately 5 kb. The density of transcribed sequences in this area (>80%) is comparable to that found in the highly gene-rich chromosomal band Xq28. Further studies may aid our understanding of the long-range organization surrounding such gene-enriched regions.

Abstract

Embodied song practices involve the transformation of songs from the acoustic modality into an embodied-visual form, to increase meaningful access for d/Deaf audiences. This goes beyond the translation of lyrics, by combining poetic sign language with other bodily movements to embody the para-linguistic expressive and musical features that enhance the message of a song. To date, the limited research into this phenomenon has focussed on linguistic features and interactions with rhythm. The relationship between bodily actions and music has not been probed beyond an assumed implication of conformance. However, as the primary objective is to communicate equivalent meanings, the ways that the acoustic and embodied-visual signals relate to each other should reveal something about underlying conceptual agreement. This paper draws together a range of pertinent theories from within a grounded cognition framework including semiotics, analogy mapping and cross-modal correspondences. These theories are applied to embodiment strategies used by prominent d/Deaf and hearing Dutch practitioners, to unpack the relationship between acoustic songs, their embodied representations, and their broader conceptual and affective meanings. This leads to the proposition that meaning primarily arises through shared patterns of internal relations across a range of amodal and cross-modal features with an emphasis on dynamic qualities. These analogous patterns can inform metaphorical interpretations and trigger shared emotional responses. This exploratory survey offers insights into the nature of cross-modal and embodied meaning-making, as a jumping-off point for further research.

Abstract

The Cha’palaa language of Ecuador (Barbacoan) features verbal morphology for marking knowledge-based categories that, in usage, show a variant of the cross-linguistically recurrent pattern of ‘egophoric distribution': specific forms associate with speakers in contrast to others in statements and with addressees in contrast to others in questions. These are not person markers, but rather are used by speakers to portray their involvement in states of affairs as active, agentive participants (ego) versus other types of involvement (non-ego). They interact with person and argument structure, but through pragmatic ‘person sensitivities’ rather than through grammatical agreement. Not only does this pattern appear in verbal morphology, it also can be observed in alternations of predicate construction types and case alignment, helping to show how egophoric marking is a pervasive element of Cha'palaa's linguistic system. This chapter gives a first account of egophoricity in Cha’palaa, beginning with a discussion of person sensitivity, egophoric distribution, and issues of flexibility of marking with respect to degree of volition or control. It then focuses on a set of intransitive experiencer (or ‘endopathic') predicates that refer to internal states which mark egophoric values for the undergoer role, not the actor role, showing ‘quirky’ accusative marking instead of nominative case. It concludes with a summary of how egophoricity in Cha'palaa interacts with issues of argument structure in comparison to a language with person agreement, here represented by examples from Cha’palaa’s neighbor Ecuadorian Highland Quechua.

Abstract

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

Abstract

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

Abstract

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

Abstract

Structural imaging based on computerized tomography (CT) and magnetic resonance imaging (MRI) has progressively replaced traditional post‐mortem studies in the process of identifying the neuroanatomical basis of language. In the clinical setting, the information provided by structural imaging has been used to confirm the exact diagnosis and formulate an individualized treatment plan. In the research arena, neuroimaging has permitted to understand neuroanatomy at the individual and group level. The possibility to obtain quantitative measures of lesions has improved correlation analyses between severity of symptoms, lesion load, and lesion location. More recently, the development of structural imaging based on diffusion MRI has provided valid solutions to two major limitations of more conventional imaging. In stroke patients, diffusion can visualize early changes due to a stroke that are otherwise not detectable with more conventional structural imaging, with important implications for the clinical management of acute stroke patients. Beyond the sensitivity to early changes, diffusion imaging tractography presents the possibility of visualizing the trajectories of individual white matter pathways connecting distant regions. A pathway analysis based on tractography is offering a new perspective in neurolinguistics. First, it permits to formulate new anatomical models of language function in the healthy brain and allows to directly test these models in the human population without any reliance on animal models. Second, by defining the exact location of the damage to specific white matter connections we can understand the contribution of different mechanisms to the emergence of language deficits (e.g., cortical versus disconnection mechanisms). Finally, a better understanding of the anatomical variability of different language networks is helping to identify new anatomical predictors of language recovery. In this chapter we will focus on the principles of structural MRI and, in particular, diffusion imaging and tractography and present examples of how these methods have informed our understanding of variance in language performances in the healthy brain and language deficits in patient populations.

Abstract

Language perception studies on bilinguals often show that words that share form and meaning across languages (cognates) are easier to process than words that share only meaning. This facilitatory phenomenon is known as the cognate effect. Most previous studies have shown this effect visually, whereas the auditory modality as well as the interplay between type of similarity and modality remain largely unexplored. In this study, highly proficient late Spanish–English bilinguals carried out a lexical decision task in their second language, both visually and auditorily. Words had high or low phonological and orthographic similarity, fully crossed. We also included orthographically identical words (perfect cognates). Our results suggest that similarity in the same modality (i.e., orthographic similarity in the visual modality and phonological similarity in the auditory modality) leads to improved signal detection, whereas similarity across modalities hinders it. We provide support for the idea that perfect cognates are a special category within cognates. Results suggest a need for a conceptual and practical separation between types of similarity in cognate studies. The theoretical implication is that the representations of items are active in both modalities of the non-target language during language processing, which needs to be incorporated to our current processing models.

Abstract

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

Abstract

Language perception studies on bilinguals often show that words that share form and meaning across
languages (cognates) are easier to process than words that share only meaning. This facilitatory
phenomenon is known as the cognate effect. Most previous studies have shown this effect visually,
whereas the auditory modality as well as the interplay between type of similarity and modality
remain largely unexplored. In this study, highly proficient late Spanish–English bilinguals carried out
a lexical decision task in their second language, both visually and auditorily. Words had high or low
phonological and orthographic similarity, fully crossed. We also included orthographically identical
words (perfect cognates). Our results suggest that similarity in the same modality (i.e., orthographic
similarity in the visual modality and phonological similarity in the auditory modality) leads to
improved signal detection, whereas similarity across modalities hinders it. We provide support for
the idea that perfect cognates are a special category within cognates. Results suggest a need for a
conceptual and practical separation between types of similarity in cognate studies. The theoretical
implication is that the representations of items are active in both modalities of the non‑target
language during language processing, which needs to be incorporated to our current processing
models.

Abstract

As knowing a foreign language becomes a necessity in the modern world, a large portion of
the population is faced with the challenge of learning a language in a classroom. This, in turn,
presents a unique set of difficulties. Acquiring a language with limited and artificial exposure makes
learning new information and vocabulary particularly difficult. The purpose of this thesis is to help us
understand how we can compensate—at least partially—for these difficulties by presenting
information in a way that aids learning. In particular, I focused on variables that affect semantic
richness—meaning the amount and variability of information associated with a word. Some factors
that affect semantic richness are intrinsic to the word and others pertain to that word’s relationship
with other items and information. This latter group depends on the context around the to-be-
learned items rather than the words themselves. These variables are easier to manipulate than
intrinsic qualities, making them more accessible tools for teaching and understanding learning. I
focused on two factors: emotionality of the surrounding semantic context and contextual diversity.
Publication 1 (Frances, de Bruin, et al., 2020b) focused on content learning in a foreign
language and whether the emotionality—positive or neutral—of the semantic context surrounding
key information aided its learning. This built on prior research that showed a reduction in
emotionality in a foreign language. Participants were taught information embedded in either
positive or neutral semantic contexts in either their native or foreign language. When they were
then tested on these embedded facts, participants’ performance decreased in the foreign language.
But, more importantly, they remembered better the information from the positive than the neutral
semantic contexts.
In Publication 2 (Frances, de Bruin, et al., 2020a), I focused on how emotionality affected
vocabulary learning. I taught participants the names of novel items described either in positive or
neutral terms in either their native or foreign language. Participants were then asked to recall and
recognize the object's name—when cued with its image. The effects of language varied with the
difficulty of the task—appearing in recall but not recognition tasks. Most importantly, learning the
words in a positive context improved learning, particularly of the association between the image of
the object and its name.
In Publication 3 (Frances, Martin, et al., 2020), I explored the effects of contextual
diversity—namely, the number of texts a word appears in—on native and foreign language word
learning. Participants read several texts that had novel pseudowords. The total number of
encounters with the novel words was held constant, but they appeared in 1, 2, 4, or 8 texts in either
their native or foreign language. Increasing contextual diversity—i.e., the number of texts a word
appeared in—improved recall and recognition, as well as the ability to match the word with its
meaning. Using a foreign language only affected performance when participants had to quickly
identify the meaning of the word.
Overall, I found that the tested contextual factors related to semantic richness—i.e.,
emotionality of the semantic context and contextual diversity—can be manipulated to improve
learning in a foreign language. Using positive emotionality not only improved learning in the foreign
language, but it did so to the same extent as in the native language. On a theoretical level, this
suggests that the reduction in emotionality in a foreign language is not ubiquitous and might relate
to the way in which that language as learned.
The third article shows an experimental manipulation of contextual diversity and how this
can affect learning of a lexical item, even if the amount of information known about the item is kept
constant. As in the case of emotionality, the effects of contextual diversity were also the same
between languages. Although deducing words from context is dependent on vocabulary size, this
does not seem to hinder the benefits of contextual diversity in the foreign language.
Finally, as a whole, the articles contained in this compendium provide evidence that some
aspects of semantic richness can be manipulated contextually to improve learning and memory. In
addition, the effects of these factors seem to be independent of language status—meaning, native
or foreign—when learning new content. This suggests that learning in a foreign and a native
language is not as different as I initially hypothesized, allowing us to take advantage of native
language learning tools in the foreign language, as well.

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

Speaking and listening are complex tasks that we perform on a daily basis, almost without conscious effort. Interestingly, speaking almost never occurs without listening: whenever we speak, we at least hear our own speech. The research in this thesis is concerned with how the perception of our own speech influences our speaking behavior. We show that unconsciously, we actively monitor this auditory feedback of our own speech. This way, we can efficiently take action and adapt articulation when an error occurs and auditory feedback does not correspond to our expectation. Processing the auditory feedback of our speech does not, however, automatically affect speech production. It is subject to a number of constraints. For example, we do not just track auditory feedback, but also its consistency. If auditory feedback is more consistent over time, it has a stronger influence on speech production. In addition, we investigated how auditory feedback during speech is processed in the brain, using magnetoencephalography (MEG). The results suggest the involvement of a broad cortical network including both auditory and motor-related regions. This is consistent with the view that the auditory center of the brain is involved in comparing auditory feedback to our expectation of auditory feedback. If this comparison yields a mismatch, motor-related regions of the brain can be recruited to alter the ongoing articulations.

Abstract

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

Abstract

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

Abstract

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

Abstract

Evolution, as we currently understand it, strikes a delicate balance between animals' ancestral history and adaptations to their current niche. Similarities between species are generally considered inherited from a common ancestor whereas observed differences are considered as more recent evolution. Hence comparing species can provide insights into the evolutionary history. Comparative neuroimaging has recently emerged as a novel subdiscipline, which uses magnetic resonance imaging (MRI) to identify similarities and differences in brain structure and function across species. Whereas invasive histological and molecular techniques are superior in spatial resolution, they are laborious, post-mortem, and oftentimes limited to specific species. Neuroimaging, by comparison, has the advantages of being applicable across species and allows for fast, whole-brain, repeatable, and multi-modal measurements of the structure and function in living brains and post-mortem tissue. In this review, we summarise the current state of the art in comparative anatomy and function of the brain and gather together the main scientific questions to be explored in the future of the fascinating new field of brain evolution derived from comparative neuroimaging.

Abstract

Language acquisition is complex. However, one thing that has been suggested to help learning is the way that information is distributed throughout language; co-occurrences among particular items (e.g., syllables and words) have been shown to help learners discover the words that a language contains and figure out how those words are used. Humans’ ability to draw on this information—“statistical learning”—has been demonstrated across a broad range of studies. However, evidence from non-WEIRD (Western, Educated, Industrialized, Rich, and Democratic) societies is critically lacking, which limits theorizing on the universality of this skill. We extended work on statistical language learning to a new, non-WEIRD linguistic population: speakers of Yélî Dnye, who live on a remote island off mainland Papua New Guinea (Rossel Island). We performed a replication of an existing statistical learning study, training adults on an artificial language with statistically defined words, then examining what they had learnt using a two-alternative forced-choice test. Crucially, we implemented several key amendments to the original study to ensure the replication was suitable for remote field-site testing with speakers of Yélî Dnye. We made critical changes to the stimuli and materials (to test speakers of Yélî Dnye, rather than English), the instructions (we re-worked these significantly, and added practice tasks to optimize participants’ understanding), and the study format (shifting from a lab-based to a portable tablet-based setup). We discuss the requirement for acute sensitivity to linguistic, cultural, and environmental factors when adapting studies to test new populations.

Abstract

Graph neural networks (GNNs) have emerged as the standard method for numerous tasks on graph-structured data such as node classification. However, real-world graphs are often evolving over time and even new classes may arise. We model these challenges as an instance of lifelong learning, in which a learner faces a sequence of tasks and may take over knowledge acquired in past tasks. Such knowledge may be stored explicitly as historic data or implicitly within model parameters. In this work, we systematically analyze the influence of implicit and explicit knowledge. Therefore, we present an incremental training method for lifelong learning on graphs and introduce a new measure based on k-neighborhood time differences to address variances in the historic data. We apply our training method to five representative GNN architectures and evaluate them on three new lifelong node classification datasets. Our results show that no more than 50% of the GNN's receptive field is necessary to retain at least 95% accuracy compared to training over the complete history of the graph data. Furthermore, our experiments confirm that implicit knowledge becomes more important when fewer explicit knowledge is available.

Abstract

We analyze the problem of response suggestion in a closed domain along a real-world scenario of a digital library. We present a text-processing pipeline to generate question-answer pairs from chat transcripts. On this limited amount of training data, we compare retrieval-based, conditioned-generation, and dedicated representation learning approaches for response suggestion. Our results show that retrieval-based methods that strive to find similar, known contexts are preferable over parametric approaches from the conditioned-generation family, when the training data is limited. We, however, identify a specific representation learning approach that is competitive to the retrieval-based approaches despite the training data limitation.

Abstract

COVID-19 research datasets are crucial for analyzing research dynamics. Most collections of COVID-19 research items do not to include cited works and do not have annotations
from a controlled vocabulary. Starting with ZB MED KE data on COVID-19, which comprises CORD-19, we assemble a new dataset that includes cited work and MeSH annotations for all records. Furthermore, we conduct experiments on the analysis of research dynamics, in which we investigate predicting links in a co-annotation graph created on the basis of the new dataset. Surprisingly, we find that simple heuristic methods are better at
predicting future links than more sophisticated approaches such as graph neural networks.

Abstract

We present multi-modal adversarial autoencoders for recommendation and evaluate them on two different tasks: citation recommendation and subject label recommendation. We analyze the effects of adversarial regularization, sparsity, and different input modalities. By conducting 408 experiments, we show that adversarial regularization consistently improves the performance of autoencoders for recommendation. We demonstrate, however, that the two tasks differ in the semantics of item co-occurrence in the sense that item co-occurrence resembles relatedness in case of citations, yet implies diversity in case of subject labels. Our results reveal that supplying the partial item set as input is only helpful, when item co-occurrence resembles relatedness. When facing a new recommendation task it is therefore crucial to consider the semantics of item co-occurrence for the choice of an appropriate model.

Abstract

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

Abstract

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

Abstract

Children must necessarily process their input in order to learn it, yet the architecture of the developing parsing system and how it interfaces with acquisition is unclear. In the current paper we report experimental and corpus data investigating adult and children's use of morphosyntactic cues for making incremental online predictions of thematic roles in Tagalog, a verb-initial symmetrical voice language of the Philippines. In Study 1, Tagalog-speaking adults completed a visual world eye-tracking experiment in which they viewed pictures of causative actions that were described by transitive sentences manipulated for voice and word order. The pattern of results showed that adults process agent and patient voice differently, predicting the upcoming noun in the patient voice but not in the agent voice, consistent with the observation of a patient voice preference in adult sentence production. In Study 2, our analysis of a corpus of child-directed speech showed that children heard more patient voice- than agent voice-marked verbs. In Study 3, 5-, 7-, and 9-year-old children completed a similar eye-tracking task as used in Study 1. The overall pattern of results suggested that, like the adults in Study 1, children process agent and patient voice differently in a manner that reflects the input distributions, with children developing towards the adult state across early childhood. The results are most consistent with theoretical accounts that identify a key role for input distributions in acquisition and language processing

Abstract

Social factors play a crucial role in the advancement of science. New findings are discussed and theories emerge through social interactions, which usually take place within local research groups and at academic events such as conferences, seminars, or workshops. This system tends to amplify the voices of a select subset of the community—especially more established researchers—thus limiting opportunities for the larger community to contribute and connect. Brainhack (https://brainhack.org/) events (or Brainhacks for short) complement these formats in neuroscience with decentralized 2- to 5-day gatherings, in which participants from diverse backgrounds and career stages collaborate and learn from each other in an informal setting. The Brainhack format was introduced in a previous publication (Cameron Craddock et al., 2016; Figures 1A and 1B). It is inspired by the hackathon model (see glossary in Table 1), which originated in software development and has gained traction in science as a way to bring people together for collaborative work and educational courses. Unlike many hackathons, Brainhacks welcome participants from all disciplines and with any level of experience—from those who have never written a line of code to software developers and expert neuroscientists. Brainhacks additionally replace the sometimes-competitive context of traditional hackathons with a purely collaborative one and also feature informal dissemination of ongoing research through unconferences.

Abstract

Tropical ecosystems are known for high species diversity. Adaptations permitting niche differentiation enable species to coexist. Historically, research focused primarily on morphological and behavioral adaptations for foraging, roosting, and other basic ecological factors. Another important factor, however, is differences in sensory capabilities. So far, studies mainly have focused on the output of behavioral strategies of predators and their prey preference. Understanding the coexistence of different foraging strategies, however, requires understanding underlying cognitive and neural mechanisms. In this study, we investigate hearing in bats and how it shapes bat species coexistence. We present the hearing thresholds and echolocation calls of 12 different gleaning bats from the ecologically diverse Phyllostomid family. We measured their auditory brainstem responses to assess their hearing sensitivity. The audiograms of these species had similar overall shapes but differed substantially for frequencies below 9 kHz and in the frequency range of their echolocation calls. Our results suggest that differences among bats in hearing abilities contribute to the diversity in foraging strategies of gleaning bats. We argue that differences in auditory sensitivity could be important mechanisms shaping diversity in sensory niches and coexistence of species.

Abstract

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

Abstract

A key function of attention is to select an appropriate subset of available information by facilitation of attended processes and/or inhibition of irrelevant processing. Functional imaging studies, using positron emission tomography, have during different experimental tasks revealed decreased neuronal activity in areas that process input from unattended sensory modalities. It has been hypothesized that these decreases reflect a selective inhibitory modulation of nonrelevant cortical processing. In this study we addressed this question using a continuous arithmetical task with and without concomitant disturbing auditory input (task-irrelevant speech). During the arithmetical task, irrelevant speech did not affect task-performance but yielded decreased activity in the auditory and midcingulate cortices and increased activity in the left posterior parietal cortex. This pattern of modulation is consistent with a top down inhibitory modulation of a nonattended input to the auditory cortex and a coexisting, attention-based facilitation of taskrelevant processing in higher order cortices. These findings suggest that task-related decreases in cortical activity may be of functional importance in the understanding of both attentional mechanisms and taskrelated information processing.

Abstract

Developmental dyslexia (DD) is a learning disorder affecting the ability to read, with a heritability of 40–60%. A notable part of this heritability remains unexplained, and large genetic studies are warranted to identify new susceptibility genes and clarify the genetic bases of dyslexia. We carried out a genome-wide association study (GWAS) on 2274 dyslexia cases and 6272 controls, testing associations at the single variant, gene, and pathway level, and estimating heritability using single-nucleotide polymorphism (SNP) data. We also calculated polygenic scores (PGSs) based on large-scale GWAS data for different neuropsychiatric disorders and cortical brain measures, educational attainment, and fluid intelligence, testing them for association with dyslexia status in our sample. We observed statistically significant (p  < 2.8 × 10−6) enrichment of associations at the gene level, for LOC388780 (20p13; uncharacterized gene), and for VEPH1 (3q25), a gene implicated in brain development. We estimated an SNP-based heritability of 20–25% for DD, and observed significant associations of dyslexia risk with PGSs for attention deficit hyperactivity disorder (at pT = 0.05 in the training GWAS: OR = 1.23[1.16; 1.30] per standard deviation increase; p  = 8 × 10−13), bipolar disorder (1.53[1.44; 1.63]; p = 1 × 10−43), schizophrenia (1.36[1.28; 1.45]; p = 4 × 10−22), psychiatric cross-disorder susceptibility (1.23[1.16; 1.30]; p = 3 × 10−12), cortical thickness of the transverse temporal gyrus (0.90[0.86; 0.96]; p = 5 × 10−4), educational attainment (0.86[0.82; 0.91]; p = 2 × 10−7), and intelligence (0.72[0.68; 0.76]; p = 9 × 10−29). This study suggests an important contribution of common genetic variants to dyslexia risk, and novel genomic overlaps with psychiatric conditions like bipolar disorder, schizophrenia, and cross-disorder susceptibility. Moreover, it revealed the presence of shared genetic foundations with a neural correlate previously implicated in dyslexia by neuroimaging evidence.

Abstract

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

Abstract

The development of rhythmicity is foundational to communicative and social behaviours in humans and many other species, and mechanisms of synchrony could be conserved across species. The goal of the current paper is to explore evolutionary hypotheses linking vocal learning and beat synchronization through genomic approaches, testing the prediction that genetic underpinnings of birdsong also contribute to the aetiology of human interactions with musical beat structure. We combined state-of-the-art-genomic datasets that account for underlying polygenicity of these traits: birdsong genome-wide transcriptomics linked to singing in zebra finches, and a human genome-wide association study of beat synchronization. Results of competitive gene set analysis revealed that the genetic architecture of human beat synchronization is significantly enriched for birdsong genes expressed in songbird Area X (a key nucleus for vocal learning, and homologous to human basal ganglia). These findings complement ethological and neural evidence of the relationship between vocal learning and beat synchronization, supporting a framework of some degree of common genomic substrates underlying rhythm-related behaviours in two clades, humans and songbirds (the largest evolutionary radiation of vocal learners). Future cross-species approaches investigating the genetic underpinnings of beat synchronization in a broad evolutionary context are discussed.

Abstract

Children who have knowledge of two languages may show better phonological awareness than their monolingual peers (e.g. Bruck & Genesee, 1995). It remains unclear how much bilingual experience is needed for such advantages to appear, and whether differences in language or cognitive skills alter the relation between bilingualism and phonological awareness. These questions were investigated in this cross-sectional study. Participants (n = 294; 4–7 year-olds, in the first three grades of primary school) were Dutch-speaking pupils attending mainstream monolingual Dutch primary schools or early-English schools providing English lessons from grade 1, and simultaneous Dutch-English bilinguals. We investigated phonological awareness (rhyming, phoneme blending, onset phoneme identification, and phoneme deletion) and its relation to age, Dutch vocabulary, English vocabulary, working memory and short-term memory, and the balance between Dutch and English vocabulary. Small significant (α < .05) effects of bilingualism were found on onset phoneme identification and phoneme deletion, but post-hoc comparisons revealed no robust pairwise differences between the groups. Furthermore, effects of bilingualism sometimes disappeared when differences in language or memory skills were taken into account. Learning two languages simultaneously is not beneficial to – and importantly, also not detrimental to – phonological awareness.

Abstract

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

Abstract

This study investigated to what extent the Peabody Picture Vocabulary Test
(PPVT-4) is a reliable tool for measuring vocabulary knowledge of English as
a second language (L2), and to what extent L1 characteristics affect test
outcomes. The PPVT-4 was administered to Dutch pupils in six different
age groups (4-15 years old) who were or were not following an English
educational programme at school. Our first finding was that the PPVT-4
was not a reliable measure for pupils who were correct on maximally 24
items, but it was reliable for pupils who performed better. Second, both
primary-school and secondary-school pupils performed better on items
for which the phonological similarity between the English word and its
Dutch translation was higher. Third, young unexperienced L2 learners’
scores were predicted by Dutch lexical frequency, while older more
experienced pupils’ scores were predicted by English frequency. These
findings indicate that the PPVT may be inappropriate for use with L2
learners with limited L2 proficiency. Furthermore, comparisons of PPVT
scores across learners with different L1s are confounded by effects of L1
frequency and L1-L2 similarity. The PPVT-4 is however a suitable measure
to compare more proficient L2 learners who have the same L1.

Abstract

This theme issue assembles current studies that ask how and why precise synchronization and related forms of rhythm interaction are expressed in a wide range of behaviour. The studies cover human activity, with an emphasis on music, and social behaviour, reproduction and communication in non-human animals. In most cases, the temporally aligned rhythms have short—from several seconds down to a fraction of a second—periods and are regulated by central nervous system pacemakers, but interactions involving rhythms that are 24 h or longer and originate in biological clocks also occur. Across this spectrum of activities, species and time scales, empirical work and modelling suggest that synchrony arises from a limited number of coupled-oscillator mechanisms with which individuals mutually entrain. Phylogenetic distribution of these common mechanisms points towards convergent evolution. Studies of animal communication indicate that many synchronous interactions between the signals of neighbouring individuals are specifically favoured by selection. However, synchronous displays are often emergent properties of entrainment between signalling individuals, and in some situations, the very signallers who produce a display might not gain any benefit from the collective timing of their production.

Abstract

What are the origins of musical rhythm? One approach to the biology and evolution of music consists in finding common musical traits across species. These similarities allow biomusicologists to infer when and how musical traits appeared in our species1
. A parallel approach to the biology and evolution of music focuses on finding statistical universals in human music2
. These include rhythmic features that appear above chance across musical cultures. One such universal is the production of categorical rhythms3
, defined as those where temporal intervals between note onsets are distributed categorically rather than uniformly2
,4
,5
. Prominent rhythm categories include those with intervals related by small integer ratios, such as 1:1 (isochrony) and 1:2, which translates as some notes being twice as long as their adjacent ones. In humans, universals are often defined in relation to the beat, a top-down cognitive process of inferring a temporal regularity from a complex musical scene1
. Without assuming the presence of the beat in other animals, one can still investigate its downstream products, namely rhythmic categories with small integer ratios detected in recorded signals. Here we combine the comparative and statistical universals approaches, testing the hypothesis that rhythmic categories and small integer ratios should appear in species showing coordinated group singing3
. We find that a lemur species displays, in its coordinated songs, the isochronous and 1:2 rhythm categories seen in human music, showing that such categories are not, among mammals, unique to humans3

Abstract

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

Abstract

Psychology endeavors to develop theories of human capacities and behaviors on the basis of a variety of methodologies and dependent measures. We argue that one of the most divisive factors in psychological science is whether researchers choose to use computational modeling of theories (over and above data) during the scientific-inference process. Modeling is undervalued yet holds promise for advancing psychological science. The inherent demands of computational modeling guide us toward better science by forcing us to conceptually analyze, specify, and formalize intuitions that otherwise remain unexamined—what we dub open theory. Constraining our inference process through modeling enables us to build explanatory and predictive theories. Here, we present scientific inference in psychology as a path function in which each step shapes the next. Computational modeling can constrain these steps, thus advancing scientific inference over and above the stewardship of experimental practice (e.g., preregistration). If psychology continues to eschew computational modeling, we predict more replicability crises and persistent failure at coherent theory building. This is because without formal modeling we lack open and transparent theorizing. We also explain how to formalize, specify, and implement a computational model, emphasizing that the advantages of modeling can be achieved by anyone with benefit to all.

Abstract

Trumai, a genetically isolated language spoken in Brazil (Xingu reserve), is an example of an endangered language. Although the Trumai population consists of more than 100 individuals, only 51 people speak the language. The oral traditions are progressively dying. Given the current scenario, the documentation of this language and its cultural aspects is of great importance. In the framework of the DoBeS program (Documentation of Endangered Languages), the project "Documentation of Trumai" has selected and organized a collection of Trumai texts, with a multi-media representation of the corpus. Several kinds of information and data types are being included in the archive of the language: texts with audio and video recordings; written texts from educational materials; drawings; photos; songs; annotations in different formats; lexicon; field notes; results from scientific studies of the language (sound system, sketch grammar, comparative studies with other Xinguan languages), etc. All materials are integrated into the IMDI-Browser, a specialized tool for presenting and searching for linguistic data. This paper explores the processing phases and the results of the Trumai project taking into consideration the issue of how to combine the needs and wishes of field linguistics (content and research aspects) and the needs of archiving (structure and workflow aspects) in a well-organized corpus.

Abstract

Gestures are often regarded as the most typical compensatory device used by language learners in communicative trouble. Yet gestural solutions to communicative problems have rarely been studied within any theory of second language use. The work pre­sented in this volume aims to account for second language learners’ strategic use of speech-associated gestures by combining a process-oriented framework for communi­cation strategies with a cognitive theory of gesture. Two empirical studies are presented. The production study investigates Swedish lear­ners of French and French learners of Swedish and their use of strategic gestures. The results, which are based on analyses of both individual and group behaviour, contradict popular opinion as well as theoretical assumptions from both fields. Gestures are not primarily used to replace speech, nor are they chiefly mimetic. Instead, learners use gestures with speech, and although they do exploit mimetic gestures to solve lexical problems, they also use more abstract gestures to handle discourse-related difficulties and metalinguistic commentary. The influence of factors such as proficiency, task, culture, and strategic competence on gesture use is discussed, and the oral and gestural strategic modes are compared. In the evaluation study, native speakers’ assessments of learners’ gestures, and the potential effect of gestures on evaluations of proficiency are analysed and discussed in terms of individual communicative style. Compensatory gestures function at multiple communicative levels. This has implica­tions for theories of communication strategies, and an expansion of the existing frameworks is discussed taking both cognitive and interactive aspects into account.

Abstract

A prototypical lexicon tool was implemented which was intended to allow researchers to collaboratively create lexicons of endangered languages. Increasingly often researchers documenting or analyzing a language work at different locations. Lexicons that evolve through continuous interaction between the collaborators can only be efficiently produced when it can be accessed and manipulated via the Internet. The SHAWEL tool was developed to address these needs; it makes use of a thin Java client and a central database solution.

Abstract

This study tests the recent claim that Broca’s aphasics are impaired in automatic lexical access, including the retrieval of word meaning. Subjects are required to perform a lexical decision on visually presented prime target pairs. Half of the word targets are preceded by a related word, half by an unrelated word. Primes and targets are presented with a long stimulus-onset-asynchrony (SOA) of 1400 msec and with a short SOA of 300 msec. Normal priming effects are observed in Broca’s aphasics for both SOAs. This result is discussed in the context of the claim that Broca’s aphasics suffer from an impairment in the automatic access of lexical–semantic information. It is argued that none of the current priming studies provides evidence supporting this claim, since with short SOAs priming effects have been reliably obtained in Broca’s aphasics. The results are more compatible with the claim that in many Broca’s aphasics the functional locus of their comprehension deficit is at the level of postlexical integration processes.

Abstract

Rhyme perception is an important predictor for future literacy. Assessing rhyme
abilities, however, commonly requires children to make explicit rhyme judgements on
single words. Here we explored whether infants already implicitly process rhymes in
natural rhyming contexts (child songs) and whether this response correlates with later
vocabulary size. In a passive listening ERP study, 10.5 month-old Dutch infants were
exposed to rhyming and non-rhyming child songs. Two types of rhyme effects were
analysed: (1) ERPs elicited by the first rhyme occurring in each song (rhyme sensitivity)
and (2) ERPs elicited by rhymes repeating after the first rhyme in each song (rhyme
repetition). Only for the latter a tentative negativity for rhymes from 0 to 200 ms
after the onset of the rhyme word was found. This rhyme repetition effect correlated
with productive vocabulary at 18 months-old, but not with any other vocabulary
measure (perception at 10.5 or 18 months-old). While awaiting future replication, the
study indicates precursors of phonological awareness already during infancy and with
ecologically valid linguistic stimuli.

Abstract

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

Abstract

We present a quantitative model of word order and movement constraints that enables a simple and uniform treatment of a seemingly heterogeneous collection of linear order phenomena in English, Dutch and German complement constructions (Wh-extraction, clause union, extraposition, verb clustering, particle movement, etc.). Underlying the scheme are central assumptions of the psycholinguistically motivated Performance Grammar (PG). Here we describe this formalism in declarative terms based on typed feature unification. PG allows a homogenous treatment of both the within- and between-language variations of the ordering phenomena under discussion, which reduce to different settings of a small number of quantitative parameters.

Abstract

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

Abstract

Repetition appears to be part of error correction and action preparation in all domains that involve producing an action sequence. The present work contends that the ubiquity of repetition is due to its role in resolving a problem inherent to planning and retrieval of action sequences: the Problem of Retrieval. Repetitions occur when the production to perform next is not activated enough to be executed. Repetitions are helpful in this situation because the repeated action sequence activates the likely continuation. We model a corpus of natural speech using a recurrent network, with words as units of production. We show that repeated material makes upcoming words more predictable, especially when more than one word is repeated. Speakers are argued to produce multiword repetitions by using backward associations to reactivate recently produced words. The existence of multiword repetitions means that speakers must decide where to reinitiate execution from. We show that production restarts from words that have seldom occurred in a predictive preceding-word context and have often occurred utterance-initially. These results are explained by competition between preceding-context and top-down cues over the course of language learning. The proposed theory improves on structural accounts of repetition disfluencies, and integrates repetition disfluencies in language production with repetitions observed in other domains of skilled action.

Abstract

Children with developmental language disorder (DLD) regularly use the base form of verbs (e.g., dance) instead of inflected forms (e.g., danced). We propose an account of this behavior in which children with DLD have difficulty processing novel inflected verbs in their input. This leads the inflected form to face stronger competition from alternatives. Competition is resolved by the production of a more accessible alternative with high semantic overlap with the inflected form: in English, the bare form. We test our account computationally by training a nonparametric Bayesian model that infers the productivity of the inflectional suffix (-ed). We systematically vary the number of novel types of inflected verbs in the input to simulate the input as processed by children with and without DLD. Modeling results are consistent with our hypothesis, suggesting that children’s inconsistent use of inflectional morphemes could stem from inferences they make on the basis of impoverished data.

Abstract

Humans are deeply affected by stories, yet it is unclear how. In this study, we explored two aspects of aesthetic experiences during narrative engagement - literariness and narrative fluctuations in appraised emotional intensity. Independent ratings of literariness and emotional intensity of two literary stories were used to predict blood-oxygen-level-dependent signal changes in 52 listeners from an existing fMRI dataset. Literariness was associated with increased activation in brain areas linked to semantic integration (left angular gyrus, supramarginal gyrus, and precuneus), and decreased activation in bilateral middle temporal cortices, associated with semantic representations and word memory. Emotional intensity correlated with decreased activation in a bilateral frontoparietal network that is often associated with controlled attention. Our results confirm a neural dissociation in processing literary form and emotional content in stories and generate new questions about the function of and interaction between attention, social cognition, and semantic systems during literary engagement and aesthetic experiences.

Abstract

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

Abstract

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

Abstract

The endeavor to understand the human brain has seen more progress in the last few decades than in the previous two millennia. Still, our understanding of how the human brain relates to behavior in the real world and how this link is modulated by biological, social, and environmental factors is limited. To address this, we designed the Healthy Brain Study (HBS), an interdisciplinary, longitudinal, cohort study based on multidimensional, dynamic assessments in both the laboratory and the real world. Here, we describe the rationale and design of the currently ongoing HBS. The HBS is examining a population-based sample of 1,000 healthy participants (age 30-39) who are thoroughly studied across an entire year. Data are collected through cognitive, affective, behavioral, and physiological testing, neuroimaging, bio-sampling, questionnaires, ecological momentary assessment, and real-world assessments using wearable devices. These data will become an accessible resource for the scientific community enabling the next step in understanding the human brain and how it dynamically and individually operates in its bio-social context. An access procedure to the collected data and bio-samples is in place and published on https://www.healthybrainstudy.nl/en/data-and-methods.

https://www.trialregister.nl/trial/7955

Abstract

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