Publications

Abstract

Contrary to the Gricean maxims of Quantity (Grice, 1975), it has been repeatedly shown that speakers often include redundant information in their utterances (over- specifications). Previous research on referential communication has long debated whether this redundancy is the result of speaker-internal or addressee-oriented processes, while it is also unclear whether referential redundancy hinders or facilitates comprehension. We present a bounded-rational account of referential redundancy, according to which any word in an utterance, even if it is redundant, can be beneficial to comprehension, to the extent that it facilitates the reduction of listeners’ uncertainty regarding the target referent in a co-present visual scene. Information-theoretic metrics, such as Shannon’s entropy (Shannon, 1948), were employed in order to quantify this uncertainty in bits of information, and gain an estimate of the cognitive effort related to referential processing. Under this account, speakers may, therefore, utilise redundant adjectives in order to reduce the visually-determined entropy (and thereby their listeners’ cognitive effort) more uniformly across their utterances. In a series of experiments, we examined both the comprehension and the production of over-specifications in complex visual contexts. Our findings are in line with the bounded-rational account. Specifically, we present evidence that: (a) in view of complex visual scenes, listeners’ processing and identification of the target referent may be facilitated by the use of redundant adjectives, as well as by a more uniform reduction of uncertainty across the utterance, and (b) that, while both speaker-internal and addressee-oriented processes are at play in the production of over-specifications, listeners’ processing concerns may also influence the encoding of redundant adjectives, at least for some speakers, who encode redundant adjectives more frequently when these adjectives contribute to a more uniform reduction of referential entropy.

Abstract

Purpose: To determine clinical phenotypes, evolution and genetic background of a large family with a combination of two unusual forms of reflex epilepsies. Method: Phenotyping was performed in eighteen family members (10 F, 8 M) including standardized EEG recordings with intermittent photic stimulation (IPS). Genetic analyses (linkage scans, Whole Exome Sequencing (WES) and Functional studies) were performed using photoparoxysmal EEG responses (PPRs) as affection status. Results: The proband suffered from speaking induced jaw-jerks and increasing limb jerks evoked by flickering sunlight since about 50 years of age. Three of her family members had the same phenotype. Generalized PPRs were found in seven members (six above 50 years of age) with myoclonus during the PPR. Evolution was typical: Sensitivity to lights with migraine-like complaints around adolescence, followed by jerks evoked by lights and spontaneously with dropping of objects, and strong increase of light sensitivity and onset of talking induced jaw jerks around 50 years. Linkage analysis showed suggestive evidence for linkage to four genomic regions. All photosensitive family members shared a heterozygous R129C mutation in the SCNM1 gene that regulates splicing of voltage gated ion channels. Mutation screening of 134 unrelated PPR patients and 95 healthy controls, did not replicate these findings. Conclusion: This family presents a combination of two rare reflex epilepsies. Genetic analysis favors four genomic regions and points to a shared SCNM1 mutation that was not replicated in a general cohort of photosensitive subjects. Further genetic studies in families with similar combination of features are warranted. (C) 2015 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

Abstract

Objective: Patients with Parkinson's disease (PD) often suffer from impairments in executive functions, such as working memory deficits. It is widely held that dopamine depletion in the striatum contributes to these impairments through decreased activity and connectivity between task-related brain networks. We investigated this hypothesis by studying task-related network activity and connectivity within a sample of de novo patients with PD, versus healthy controls, during a visuospatial working memory task. Methods: Sixteen de novo PD patients and 35 matched healthy controls performed a visuospatial n-back task while we measured their behavioral performance and neural activity using functional magnetic resonance imaging. We constructed regions-of-interest in the bilateral inferior parietal cortex (IPC), bilateral dorsolateral prefrontal cortex (DLPFC), and bilateral caudate nucleus to investigate group differences in task-related activity. We studied network connectivity by assessing the functional connectivity of the bilateral DLPFC and by assessing effective connectivity within the frontoparietal and the frontostriatal networks. Results: PD patients, compared with controls, showed trend-significantly decreased task accuracy, significantly increased task-related activity in the left DLPFC and a trend-significant increase in activity of the right DLPFC, left caudate nucleus, and left IPC. Furthermore, we found reduced functional connectivity of the DLPFC with other task-related regions, such as the inferior and superior frontal gyri, in the PD group, and group differences in effective connectivity within the frontoparietal network. Interpretation: These findings suggest that the increase in working memory-related brain activity in PD patients is compensatory to maintain behavioral performance in the presence of network deficits. Hum Brain Mapp 36:1554-1566, 2015. (c) 2015 Wiley Periodicals, Inc.

Abstract

Humans are unique in their ability to communicate information through representational gestures which visually simulate an action (eg. moving hands as if opening a jar). Previous research indicates that the intention to communicate modulates the kinematics (e.g., velocity, size) of such gestures. If and how this modulation influences addressees’ comprehension of gestures have not been investigated. Here we ask whether communicative kinematic modulation enhances semantic comprehension (i.e., identification) of gestures. We additionally investigate whether any comprehension advantage is due to enhanced early identification or late identification. Participants (n = 20) watched videos of representational gestures produced in a more- (n = 60) or less-communicative (n = 60) context and performed a forced-choice recognition task. We tested the isolated role of kinematics by removing visibility of actor’s faces in Experiment I, and by reducing the stimuli to stick-light figures in Experiment II. Three video lengths were used to disentangle early identification from late identification. Accuracy and response time quantified main effects. Kinematic modulation was tested for correlations with task performance. We found higher gesture identification performance in more- compared to less-communicative gestures. However, early identification was only enhanced within a full visual context, while late identification occurred even when viewing isolated kinematics. Additionally, temporally segmented acts with more post-stroke holds were associated with higher accuracy. Our results demonstrate that communicative signaling, interacting with other visual cues, generally supports gesture identification, while kinematic modulation specifically enhances late identification in the absence of other cues. Results provide insights into mutual understanding processes as well as creating artificial communicative agents.

Abstract

Social interaction requires us to recognize subtle cues in behavior, such as kinematic differences in actions and gestures produced with different social intentions. Neuroscientific studies indicate that the putative mirror neuron system (pMNS) in the premotor cortex and mentalizing system (MS) in the medial prefrontal cortex support inferences about contextually unusual actions. However, little is known regarding the brain dynamics of these systems when viewing communicatively exaggerated kinematics. In an event-related functional magnetic resonance imaging experiment, 28 participants viewed stick-light videos of pantomime gestures, recorded in a previous study, which contained varying degrees of communicative exaggeration. Participants made either social or nonsocial classifications of the videos. Using participant responses and pantomime kinematics, we modeled the probability of each video being classified as communicative. Interregion connectivity and activity were modulated by kinematic exaggeration, depending on the task. In the Social Task, communicativeness of the gesture increased activation of several pMNS and MS regions and modulated top-down coupling from the MS to the pMNS, but engagement of the pMNS and MS was not found in the nonsocial task. Our results suggest that expectation violations can be a key cue for inferring communicative intention, extending previous findings from wholly unexpected actions to more subtle social signaling.

Abstract

Multilingual speakers are able to switch from
one language to the other (“code-switch”) be-
tween or within sentences. Because the under-
lying cognitive mechanisms are not well un-
derstood, in this study we use computational
cognitive modeling to shed light on the pro-
cess of code-switching. We employed the
Bilingual Dual-path model, a Recurrent Neu-
ral Network of bilingual sentence production
(Tsoukala et al., 2017) and simulated sentence
production in simultaneous Spanish-English
bilinguals. Our first goal was to investigate
whether the model would code-switch with-
out being exposed to code-switched training
input. The model indeed produced code-
switches even without any exposure to such
input and the patterns of code-switches are
in line with earlier linguistic work (Poplack,
1980). The second goal of this study was to
investigate an auxiliary phrase asymmetry that
exists in Spanish-English code-switched pro-
duction. Using this cognitive model, we ex-
amined a possible cause for this asymmetry.
To our knowledge, this is the first computa-
tional cognitive model that aims to simulate
code-switched sentence production.

Abstract

Meta-analyses are an indispensable research synthesis tool for characterizing bodies of literature and advancing theories. One important open question concerns the inclusion of unpublished data into meta-analyses. Finding such studies can be effortful, but their exclusion potentially leads to consequential biases like overestimation of a literature’s mean effect. We address two questions about unpublished data using MetaLab, a collection of community-augmented meta-analyses focused on developmental psychology. First, we assess to what extent MetaLab datasets include gray literature, and by what search strategies they are unearthed. We find that an average of 11% of datapoints are from unpublished literature; standard search strategies like database searches, complemented with individualized approaches like including authors’ own data, contribute the majority of this literature. Second, we analyze the effect of including versus excluding unpublished literature on estimates of effect size and publication bias, and find this decision does not affect outcomes. We discuss lessons learned and implications.

Abstract

Numerous studies have revealed an asymmetry tied to the perception of coronal place of articulation: participants accept a labial mispronunciation of a coronal target, but not vice versa. Whether or not this asymmetry is based on language-general properties or arises from language-specific experience has been a matter of debate. The current study suggests a bias of the first type by documenting an early, cross-linguistic asymmetry related to coronal place of articulation. Japanese and Dutch 4- and 6-month-old infants showed evidence of discrimination if they were habituated to a labial and then tested on a coronal sequence, but not vice versa. This finding has important implications for both phonological theories and infant speech perception research

Abstract

A hallmark of human thought is the ability to think about not just the actual world, but also about alternative ways the world could be. One way to study this contrast is through language. Language has grammatical devices for expressing possibilities and necessities, such as the words might or must. With these devices, called “modal expressions,” we can study the actual vs. possible contrast in a highly controlled way. While factual utterances such as “There is a monster under my bed” update the here-and-now of a discourse model, a modal version of this sentence, “There might be a monster under my bed,” displaces from the here-and-now and merely postulates a possibility. We used magnetoencephalography (MEG) to test whether the processes of discourse updating and modal displacement dissociate in the brain. Factual and modal utterances were embedded in short narratives, and across two experiments, factual expressions increased the measured activity over modal expressions. However, the localization of the increase appeared to depend on perspective: signal localizing in right temporo-parietal areas increased when updating others’ beliefs, while frontal medial areas seem sensitive to updating one’s own beliefs. The presence of modal displacement did not elevate MEG signal strength in any of our analyses. In sum, this study identifies potential neural signatures of the process by which facts get added to our mental representation of the world.Competing Interest StatementThe authors have declared no competing interest.

Abstract

The contribution of rare and low-frequency variants to human traits is largely unexplored. Here we describe insights from sequencing whole genomes (low read depth, 7×) or exomes (high read depth, 80×) of nearly 10,000 individuals from population-based and disease collections. In extensively phenotyped cohorts we characterize over 24 million novel sequence variants, generate a highly accurate imputation reference panel and identify novel alleles associated with levels of triglycerides (APOB), adiponectin (ADIPOQ) and low-density lipoprotein cholesterol (LDLR and RGAG1) from single-marker and rare variant aggregation tests. We describe population structure and functional annotation of rare and low-frequency variants, use the data to estimate the benefits of sequencing for association studies, and summarize lessons from disease-specific collections. Finally, we make available an extensive resource, including individual-level genetic and phenotypic data and web-based tools to facilitate the exploration of association results.

Abstract

To adapt to situations in which speech perception is difficult, listeners can adjust boundaries between phoneme categories using perceptual learning. Such adjustments can draw on lexical information in surrounding speech, or on visual cues via speech-reading. In the present study, listeners proved they were able to flexibly adjust the boundary between two plosive/stop consonants, /p/-/t/, using both lexical and speech-reading information and given the same experimental design for both cue types. Videos of a speaker pronouncing pseudo-words and audio recordings of Dutch words were presented in alternating blocks of either stimulus type. Listeners were able to switch between cues to adjust phoneme boundaries, and resulting effects were comparable to results from listeners receiving only a single source of information. Overall, audiovisual cues (i.e., the videos) produced the stronger effects, commensurate with their applicability for adapting to noisy environments. Lexical cues were able to induce effects with fewer exposure stimuli and a changing phoneme bias, in a design unlike most prior studies of lexical retuning. While lexical retuning effects were relatively weaker compared to audiovisual recalibration, this discrepancy could reflect how lexical retuning may be more suitable for adapting to speakers than to environments. Nonetheless, the presence of the lexical retuning effects suggests that it may be invoked at a faster rate than previously seen. In general, this technique has further illuminated the robustness of adaptability in speech perception, and offers the potential to enable further comparisons across differing forms of perceptual learning.

Abstract

When listeners experience difficulty in understanding a speaker, lexical and audiovisual (or lipreading) information can be a helpful source of guidance. These two types of information embedded in speech can also guide perceptual adjustment, also
known as recalibration or perceptual retuning. With retuning or recalibration, listeners can use these contextual cues to temporarily or permanently reconfigure internal representations of phoneme categories to adjust to and understand novel interlocutors more easily. These two types of perceptual learning, previously investigated in large part separately, are highly similar in allowing listeners to use speech-external information to make phoneme boundary adjustments. This study explored whether the two sources may work in conjunction to induce adaptation, thus emulating real life, in which listeners are indeed likely to encounter both types of cue together. Listeners who received combined audiovisual and lexical cues showed perceptual learning effects
similar to listeners who only received audiovisual cues, while listeners who received only lexical cues showed weaker effects compared with the two other groups. The combination of cues did not lead to additive retuning or recalibration effects, suggesting that lexical and audiovisual cues operate differently with regard to how listeners use them for reshaping perceptual categories.
Reaction times did not significantly differ across the three conditions, so none of the forms of adjustment were either aided or
hindered by processing time differences. Mechanisms underlying these forms of perceptual learning may diverge in numerous ways despite similarities in experimental applications.

Abstract

When speech perception is difficult, one way listeners adjust is by reconfiguring phoneme category boundaries, drawing on contextual information. Both lexical knowledge and lipreading cues are used in this way, but it remains unknown whether these two differing forms of perceptual learning are similar at a neural level. This study compared phoneme boundary adjustments driven by lexical or audiovisual cues, using ultra-high-field 7-T fMRI. During imaging, participants heard exposure stimuli and test stimuli. Exposure stimuli for lexical retuning were audio recordings of words, and those for audiovisual recalibration were audio–video recordings of lip movements during utterances of pseudowords. Test stimuli were ambiguous phonetic strings presented without context, and listeners reported what phoneme they heard. Reports reflected phoneme biases in preceding exposure blocks (e.g., more reported /p/ after /p/-biased exposure). Analysis of corresponding brain responses indicated that both forms of cue use were associated with a network of activity across the temporal cortex, plus parietal, insula, and motor areas. Audiovisual recalibration also elicited significant occipital cortex activity despite the lack of visual stimuli. Activity levels in several ROIs also covaried with strength of audiovisual recalibration, with greater activity accompanying larger recalibration shifts. Similar activation patterns appeared for lexical retuning, but here, no significant ROIs were identified. Audiovisual and lexical forms of perceptual learning thus induce largely similar brain response patterns. However, audiovisual recalibration involves additional visual cortex contributions, suggesting that previously acquired visual information (on lip movements) is retrieved and deployed to disambiguate auditory perception.

Abstract

Understanding and acquiring language involve mapping language onto conceptual representations. Nevertheless, several issues remain unresolved with respect to (a) how such mappings are performed, and (b) whether conceptual representations are susceptible to cross‐linguistic influences. In this article, we discuss these issues focusing on the domain of evidentiality and sources of knowledge. Empirical evidence in this domain yields growing support for the proposal that linguistic categories of evidentiality are tightly linked to, build on, and reflect conceptual representations of sources of knowledge that are shared across speakers of different languages.

Abstract

FOXP2 has been identified as a gene related to speech in humans, based on rare mutations that yield significant impairments in speech at the level of both motor performance and language comprehension. Disruptions of the murine orthologue Foxp2 in mouse pups have been shown to interfere with production of ultrasonic vocalizations (USVs). However, it remains unclear which structures are responsible for these deficits. Here, we show that conditional knockout mice with selective Foxp2 deletions targeting the cerebral cortex, striatum or cerebellum, three key sites of motor control with robust neural gene expression, do not recapture the profile of pup USV deficits observed in mice with global disruptions of this gene. Moreover, we observed that global Foxp2 knockout pups show substantive reductions in USV production as well as an overproduction of short broadband noise “clicks”, which was not present in the brain region-specific knockouts. These data indicate that deficits of Foxp2 expression in the cortex, striatum or cerebellum cannot solely explain the disrupted vocalization behaviours in global Foxp2 knockouts. Our findings raise the possibility that the impact of Foxp2 disruption on USV is mediated at least in part by effects of this gene on the anatomical prerequisites for vocalizing.

Abstract

In this dissertation the perceptual relevance of prevoicing in Dutch was investigated. Prevoicing is the presence of vocal fold vibration during the closure of initial voiced plosives (negative voice onset time). The presence or absence of prevoicing is generally used to describe the difference between voiced and voiceless Dutch plosives. The first experiment described in this dissertation showed that prevoicing is frequently absent in Dutch and that several factors affect the production of prevoicing. A detailed acoustic analysis of the voicing distinction identified several acoustic correlates of voicing. Prevoicing appeared to be by far the best predictor. Perceptual classification data revealed that prevoicing was indeed the strongest cue that listeners use when classifying plosives as voiced or voiceless. In the cases where prevoicing was absent, other acoustic cues influenced classification, such that some of these tokens were still perceived as being voiced. In the second part of this dissertation the influence of prevoicing variation on spoken-word recognition was examined. In several cross-modal priming experiments two types of prevoicing variation were contrasted: a difference between the presence and absence of prevoicing (6 versus 0 periods of prevoicing) and a difference in the amount of prevoicing (12 versus 6 periods). All these experiments indicated that primes with 12 and 6 periods of prevoicing had the same effect on lexical decisions to the visual targets. The primes without prevoicing had a different effect, but only when their voiceless counterparts were real words. Phonetic detail appears to influence lexical access only when it is useful: In Dutch, the presence versus absence of prevoicing is informative, while the amount of prevoicing is not.

Abstract

An event-related brain potential experiment was carried out to investigate the influence of semantic and syntactic context constraints on lexical selection and integration in spoken-word comprehension. Subjects were presented with constraining spoken sentences that contained a critical word that was either (a) congruent, (b) semantically and syntactically incongruent, but beginning with the same initial phonemes as the congruent critical word, or (c) semantically and syntactically incongruent, beginning with phonemes that differed from the congruent critical word. Relative to the congruent condition, an N200 effect reflecting difficulty in the lexical selection process was obtained in the semantically and syntactically incongruent condition where word onset differed from that of the congruent critical word. Both incongruent conditions elicited a large N400 followed by a left anterior negativity (LAN) time-locked to the moment of word category violation and a P600 effect. These results would best fit within a cascaded model of spoken-word processing, proclaiming an optimal use of contextual information during spokenword identification by allowing for semantic and syntactic processing to take place in parallel after bottom-up activation of a set of candidates, and lexical integration to proceed with a limited number of candidates that still match the acoustic input.

Abstract

This paper introduces a new CLARIN Knowledge Center which is the K-Centre for Atypical Communication Expertise (ACE for short) which has been established at the Centre for Language and Speech Technology (CLST) at Radboud University. Atypical communication is an umbrella term used here to denote language use by second language learners, people with language disorders or those suffering from language disabilities, but also more broadly by bilinguals and users of sign languages. It involves multiple modalities (text, speech, sign, gesture) and encompasses different developmental stages. ACE closely collaborates with The Language Archive (TLA) at the Max Planck Institute for Psycholinguistics in order to safeguard GDPR-compliant data storage and access. We explain the mission of ACE and show its potential on a number of showcases and a use case.

Abstract

A series of experiments is conducted on naïve native speakers of Dutch and English to study the scope relation between tense and epistemic modality. The results are consistent with the claim that epistemics scope over tense (Stowell 2004, Hacquard 2006, a.o.), and challenge recent research that states that epistemics can, or must, scope under tense (von Fintel and Gillies 2007, Rullmann & Matthewson 2018): Dutch and English participants in a Truth Value Judgment Task judge sentences to be false when the past tense forms of the modals have to and moeten 'have to' are used to make an epistemic claim that held at a time before speech time, and true when they are used to make an epistemic claim that holds at speech time. Moreover, English participants in an Acceptability Judgment Task judge sentences to be infelicitous when the same past tense form of have to is used to make an epistemic claim that held at a time before speech time. Besides these general patterns, the results show variation within and across the two languages, which leads to interesting new questions about the interaction between tense and (epistemic) modality.

Abstract

Importance Recurrent microdeletions and duplications in the genomic region 15q11.2 between breakpoints 1 (BP1) and 2 (BP2) are associated with neurodevelopmental disorders. These structural variants are present in 0.5% to 1.0% of the population, making 15q11.2 BP1-BP2 the site of the most prevalent known pathogenic copy number variation (CNV). It is unknown to what extent this CNV influences brain structure and affects cognitive abilities.

Objective To determine the association of the 15q11.2 BP1-BP2 deletion and duplication CNVs with cortical and subcortical brain morphology and cognitive task performance.

Design, Setting, and Participants In this genetic association study, T1-weighted brain magnetic resonance imaging were combined with genetic data from the ENIGMA-CNV consortium and the UK Biobank, with a replication cohort from Iceland. In total, 203 deletion carriers, 45 247 noncarriers, and 306 duplication carriers were included. Data were collected from August 2015 to April 2019, and data were analyzed from September 2018 to September 2019.

Main Outcomes and Measures The associations of the CNV with global and regional measures of surface area and cortical thickness as well as subcortical volumes were investigated, correcting for age, age2, sex, scanner, and intracranial volume. Additionally, measures of cognitive ability were analyzed in the full UK Biobank cohort.

Results Of 45 756 included individuals, the mean (SD) age was 55.8 (18.3) years, and 23 754 (51.9%) were female. Compared with noncarriers, deletion carriers had a lower surface area (Cohen d = −0.41; SE, 0.08; P = 4.9 × 10−8), thicker cortex (Cohen d = 0.36; SE, 0.07; P = 1.3 × 10−7), and a smaller nucleus accumbens (Cohen d = −0.27; SE, 0.07; P = 7.3 × 10−5). There was also a significant negative dose response on cortical thickness (β = −0.24; SE, 0.05; P = 6.8 × 10−7). Regional cortical analyses showed a localization of the effects to the frontal, cingulate, and parietal lobes. Further, cognitive ability was lower for deletion carriers compared with noncarriers on 5 of 7 tasks.

Conclusions and Relevance These findings, from the largest CNV neuroimaging study to date, provide evidence that 15q11.2 BP1-BP2 structural variation is associated with brain morphology and cognition, with deletion carriers being particularly affected. The pattern of results fits with known molecular functions of genes in the 15q11.2 BP1-BP2 region and suggests involvement of these genes in neuronal plasticity. These neurobiological effects likely contribute to the association of this CNV with neurodevelopmental disorders.

Abstract

In normal conversation, speakers translate thoughts into words at high speed. To enable this speed, the retrieval of distinct types of linguistic knowledge has to be orchestrated with millisecond precision. The nature of this orchestration is still largely unknown. This report presents dynamic measures of the real-time activation of two basic types of linguistic knowledge, syntax and phonology. Electrophysiological data demonstrate that during noun-phrase production speakers retrieve the syntactic gender of a noun before its abstract phonological properties. This two-step process operates at high speed: the data show that phonological information is already available 40 milliseconds after syntactic properties have been retrieved.

Abstract

The hippocampus is a heterogeneous structure, comprising histologically distinguishable subfields. These subfields are differentially involved in memory consolidation, spatial navigation and pattern separation, complex functions often impaired in individuals with brain disorders characterized by reduced hippocampal volume, including Alzheimer’s disease (AD) and schizophrenia. Given the structural and functional heterogeneity of the hippocampal formation, we sought to characterize the subfields’ genetic architecture. T1-weighted brain scans (n = 21,297, 16 cohorts) were processed with the hippocampal subfields algorithm in FreeSurfer v6.0. We ran a genome-wide association analysis on each subfield, co-varying for whole hippocampal volume. We further calculated the single-nucleotide polymorphism (SNP)-based heritability of 12 subfields, as well as their genetic correlation with each other, with other structural brain features and with AD and schizophrenia. All outcome measures were corrected for age, sex and intracranial volume. We found 15 unique genome-wide significant loci across six subfields, of which eight had not been previously linked to the hippocampus. Top SNPs were mapped to genes associated with neuronal differentiation, locomotor behaviour, schizophrenia and AD. The volumes of all the subfields were estimated to be heritable (h2 from 0.14 to 0.27, all p < 1 × 10–16) and clustered together based on their genetic correlations compared with other structural brain features. There was also evidence of genetic overlap of subicular subfield volumes with schizophrenia. We conclude that hippocampal subfields have partly distinct genetic determinants associated with specific biological processes and traits. Taking into account this specificity may increase our understanding of hippocampal neurobiology and associated pathologies.

Abstract

Common genetic variants have been identified for adult height, but not much is known about the genetics of skeletal growth in early life. To identify common genetic variants that influence fetal skeletal growth, we meta-analyzed 22 genome-wide association studies (Stage 1; N = 28 459). We identified seven independent top single nucleotide polymorphisms (SNPs) (P < 1 × 10(-6)) for birth length, of which three were novel and four were in or near loci known to be associated with adult height (LCORL, PTCH1, GPR126 and HMGA2). The three novel SNPs were followed-up in nine replication studies (Stage 2; N = 11 995), with rs905938 in DC-STAMP domain containing 2 (DCST2) genome-wide significantly associated with birth length in a joint analysis (Stages 1 + 2; β = 0.046, SE = 0.008, P = 2.46 × 10(-8), explained variance = 0.05%). Rs905938 was also associated with infant length (N = 28 228; P = 5.54 × 10(-4)) and adult height (N = 127 513; P = 1.45 × 10(-5)). DCST2 is a DC-STAMP-like protein family member and DC-STAMP is an osteoclast cell-fusion regulator. Polygenic scores based on 180 SNPs previously associated with human adult stature explained 0.13% of variance in birth length. The same SNPs explained 2.95% of the variance of infant length. Of the 180 known adult height loci, 11 were genome-wide significantly associated with infant length (SF3B4, LCORL, SPAG17, C6orf173, PTCH1, GDF5, ZNFX1, HHIP, ACAN, HLA locus and HMGA2). This study highlights that common variation in DCST2 influences variation in early growth and adult height.

Abstract

How can people communicate successfully while keeping resource costs low in the face of ambiguity? We present a principled theoretical analysis comparing two strategies for disambiguation in communication: (i) pragmatic reasoning, where communicators reason about each other, and (ii) other-initiated repair, where communicators signal and resolve trouble interactively. Using agent-based simulations and computational complexity analyses, we compare the efficiency of these strategies in terms of communicative success, computation cost and interaction cost. We show that agents with a simple repair mechanism can increase efficiency, compared to pragmatic agents, by reducing their computational burden at the cost of longer interactions. We also find that efficiency is highly contingent on the mechanism, highlighting the importance of explicit formalisation and computational rigour.

Abstract

The syntactic structure of main and subordinate clauses is determined to a considerable extent by verb biases. For example, some English and Dutch ditransitive verbs have a preference for the prepositional object dative, whereas others are typically used with the double object dative. In this study, we compare the effect of these biases on structure selection in (S)VO and (S)OV dative clauses in the Corpus of Spoken Dutch (CGN). This comparison allowed us to make inferences about the size of the advance planning scope during spontaneous speaking: If the verb is an obligatory component of clause-level advance planning scope, as is claimed by the hypothesis of hierarchical incrementality, then biases should exert their influence on structure choices, regardless of early (VO) or late (OV) position of the verb in the clause. Conversely, if planning proceeds in a piecemeal fashion, strictly guided by lexical availability, as claimed by linear incrementality, then the verb and its associated biases can only influence structure choices in VO sentences. We tested these predictions by analyzing structure choices in the CGN, using mixed logit models. Our results support a combination of linear and hierarchical incrementality, showing a significant influence of verb bias on structure choices in VO, and a weaker (but still significant) effect in OV clauses

Abstract

We report on a prospective longitudinal research programme exploring the connection between language acquisition deficits and dyslexia. The language development profile of children at-risk for dyslexia is compared to that of age-matched controls as well as of children who have been diagnosed with specific language impairment (SLI). The experiments described concern the perception and production of grammatical morphology, categorical perception of speech sounds, phonological processing (non-word repetition), mispronunciation detection, and rhyme detection. The results of each of these indicate that the at-risk children as a group underperform in comparison to the controls, and that, in most cases, they approach the SLI group. It can be concluded that dyslexia most likely has precursors in language development, also in domains other than those traditionally considered conditional for the acquisition of literacy skills. The dyslexia-SLI connection awaits further, particularly qualitative, analyses.

Abstract

An introductory study of the perception of stochastically specified events is reported. The initial problem was to determine whether the perceiver can split visual input data of this kind into random and determined components. The inability of subjects to do so with the stimulus material used (a filmlike sequence of dot patterns), led to the more general question of how subjects code this kind of visual material. To meet the difficulty of defining the subjects' responses, two experiments were designed. In both, patterns were presented as a rapid sequence of dots on a screen. The patterns were more or less disturbed by “noise,” i.e. the dots did not appear exactly at their proper places. In the first experiment the response was a rating on a semantic scale, in the second an identification from among a set of alternative patterns. The results of these experiments give some insight in the coding systems adopted by the subjects. First, noise appears to be detrimental to pattern recognition, especially to patterns with little spread. Second, this shows connections with the factors obtained from analysis of the semantic ratings, e.g. easily disturbed patterns show a large drop in the semantic regularity factor, when only a little noise is added.

Abstract

The aim of this thesis was to gain more insight into spoken-word comprehension and the influence of sentence-contextual information on these processes using ERPs. By manipulating critical words in semantically constraining sententes, in semantic or syntactic sense, and examining the consequences in the electrophysiological signal (e.g., elicitation of ERP components such as the N400, N200, LAN, and P600), three questions were tackled: I At which moment is context information used in the spoken-word recognition process? II What is the temporal relationship between lexical selection and integration of the meaning of a spoken word into a higher-order level representeation of the preceding sentence? III What is the time course of the processing of different sources of linguistic information obtained from the context, such as phonological, semantic and syntactic information, during spoken-word comprehension? From the results of this thesis it can be concluded that sentential context already exerts an influence on spoken-word processing at approximately 200 ms after word onset. In addition, semantic integration is attempted before a spoken word can be selected on the basis of the acoustic signal, i.e. before lexical selection is completed. Finally, knowledge of the syntactic category of a word is not needed before semantic integration can take place. These findings, therefore, were interpreted as providing evidence for an account of cascaded spoken-word processing that proclaims an optimal use of contextual information during spoken-word identification. Optimal use is accomplished by allowing for semantic and syntactic processing to take place in parallel after bottom-up activation of a set of candidates, and lexical integration to proceed with a limited number of candidates that still match the acoustic input

Abstract

Three experiments investigated the voicing distinction in Dutch initial labial and alveolar plosives. The difference between voiced and voiceless Dutch plosives is generally described in terms of the presence or absence of prevoicing (negative voice onset time). Experiment 1 showed, however, that prevoicing was absent in 25% of voiced plosive productions across 10 speakers. The production of prevoicing was influenced by place of articulation of the plosive, by whether the plosive occurred in a consonant cluster or not, and by speaker sex. Experiment 2 was a detailed acoustic analysis of the voicing distinction, which identified several acoustic correlates of voicing. Prevoicing appeared to be by far the best predictor. Perceptual classification data revealed that prevoicing was indeed the strongest cue that listeners use when classifying plosives as voiced or voiceless. In the cases where prevoicing was absent, other acoustic cues influenced classification, such that some of these tokens were still perceived as being voiced. These secondary cues were different for the two places of articulation. We discuss the paradox raised by these findings: although prevoicing is the most reliable cue to the voicing distinction for listeners, it is not reliably produced by speakers.

Abstract

Fluency is an important part of research on second language learning, but most research on language proficiency typically has not included oral fluency as part of interaction, even though natural communication usually occurs in conversations. The present study considered aspects of turn-taking behavior as part of the construct of fluency and investigated whether these aspects differentially influence perceived fluency ratings of native and non-native speech. Results from two experiments using acoustically manipulated speech showed that, in native speech, too ‘eager’ (interrupting a question with a fast answer) and too ‘reluctant’ answers (answering slowly after a long turn gap) negatively affected fluency ratings. However, in non-native speech, only too ‘reluctant’ answers led to lower fluency ratings. Thus, we demonstrate that acoustic properties of dialogue are perceived as part of fluency. By adding to our current understanding of dialogue fluency, these lab-based findings carry implications for language teaching and assessment

Abstract

Investigating phenotypic heterogeneity in aggression and understanding the molecular biological basis of aggression subtypes may lead to new prevention and treatment options. In the current study, we evaluated the taxonomy of aggression and examined specific genetic mechanisms underlying aggression subtypes in healthy males and females. Confirmatory Factor Analysis (CFA) was used to replicate a recently reported three-factor model of the Reactive Proactive Questionnaire (RPQ) in healthy adults (n=661; median age 24.0 years; 41% male). Gene-set association analysis, aggregating common genetic variants within (a combination of) three molecular pathways previously implicated in aggression, i.e. serotonergic, dopaminergic, and neuroendocrine signaling, was conducted with MAGMA software in males and females separately (total n=395) for aggression subtypes. We replicate the three-factor CFA model of the RPQ, and found males to score significantly higher on one of these factors compared to females: proactive aggression. The genetic association analysis showed a female-specific association of genetic variation in the combined gene-set with a different factor of the RPQ; reactive aggression due to internal frustration. Both the neuroendocrine and serotonergic gene-sets contributed significantly to this association. Our genetic findings are subtype- and sex-specific, stressing the value of efforts to reduce heterogeneity in research of aggression etiology. Importantly, subtype- and sex-differences in the underlying pathophysiology of aggression suggest that optimal treatment options will have to be tailored to the individual patient. Male and female needs of intervention might differ, stressing the need for sex-specific further research of aggression. Our work highlights opportunities for sample size maximization offered by population-based studies of aggression.

Abstract

This study investigated whether the negative effect of complexity on artificial grammar learning could be compensated by adding semantics. Participants were exposed to exemplars from a simple or a complex finite state grammar presented with or without a semantic reference field. As expected, performance on a grammaticality judgment test was higher for the simple grammar than for the complex grammar. For the simple grammar, the results also showed that participants presented with a reference field and instructed to decode the meaning of each exemplar (decoding condition) did better than participants who memorized the exemplars without semantic referents (memorize condition). Contrary to expectations, however, there was no significant difference between the decoding condition and the memorize condition for the complex grammar. These findings indicated that the negative effect of complexity remained, despite the addition of semantics. To clarify how the presence of a reference field influenced the learning process, its effects on the acquisition of two types of knowledge (first- and second-order dependencies) and on participants’ awareness of their knowledge were examined. The results tentatively suggested that the reference field enhanced the learning of second-order dependencies. In addition, participants in the decoding condition realized when they had knowledge relevant to making a grammaticality judgment, whereas participants in the memorize condition demonstrated some knowledge of which they were unaware. These results are in line with the view that the reference field enhanced structure learning by making certain dependencies more salient. Moreover, our findings stress the influence of complexity on artificial grammar learning

Abstract

According to the complementary learning systems (CLS) account of word learning, novel words are rapidly acquired (learning system 1), but slowly integrated into the mental lexicon (learning system 2). This two-step learning process has been shown to apply to novel word forms. In this study, we investigated whether novel word meanings are also gradually integrated after acquisition by measuring the extent to which newly learned words were able to prime semantically related words at two different time points. In addition, we investigated whether modality at study modulates this integration process. Sixty-four adult participants studied novel words together with written or spoken definitions. These words did not prime semantically related words directly following study, but did so after a 24-hour delay. This significant increase in the magnitude of the priming effect suggests that semantic integration occurs over time. Overall, words that were studied with a written definition showed larger priming effects, suggesting greater integration for the written study modality. Although the process of integration, reflected as an increase in the priming effect over time, did not significantly differ between study modalities, words studied with a written definition showed the most prominent positive effect after a 24-hour delay. Our data suggest that semantic integration requires time, and that studying in written format benefits semantic integration more than studying in spoken format. These findings are discussed in light of the CLS theory of word learning.

Abstract

As a preliminary to further research on musical consonance an explanatory investigation was made on the different modes of judgment of musical intervals. This was done by way of a semantic differential. Subjects rated 23 intervals against 10 scales. In a factor analysis three factors appeared: pitch, evaluation and fusion. The relation between these factors and some physical characteristics has been investigated. The scale consonant-dissonant showed to be purely evaluative (in opposition to Stumpf's theory). This evaluative connotation is not in accordance with the musicological meaning of consonance. Suggestions to account for this difference have been given.

Abstract

Within the first few years of life, children acquire many of the building blocks of their native language. This not only involves knowledge about the linguistic structure of spoken language, but also knowledge about the way in which this linguistic structure surfaces in their speech input. In this chapter, we review how infants and toddlers cope with differences between speakers and accents. Within the context of milestones in early speech perception, we examine how voice and accent characteristics are integrated during language processing, looking closely at the advantages and disadvantages of speaker and accent familiarity, surface-level deviation between two utterances, variability in the input, and prior speaker exposure. We conclude that although deviation from the child’s standard can complicate speech perception early in life, young listeners can overcome these additional challenges. This suggests that early spoken language processing is flexible and adaptive to the listening situation at hand.

Abstract

Speech requires precise motor control and rapid sequencing of highly complex vocal musculature. Despite its complexity, most people produce spoken language effortlessly. This is due to activity in distributed neuronal circuitry including cortico-striato-thalamic loops that control speech-motor output. Understanding the neuro-genetic mechanisms that encode these pathways will shed light on how humans can effortlessly and innately use spoken language and could elucidate what goes wrong in speech-language disorders.
FOXP2 was the first single gene identified to cause speech and language disorder. Individuals with FOXP2 mutations display a severe speech deficit that also includes receptive and expressive language impairments. The underlying neuro-molecular mechanisms controlled by FOXP2, which will give insight into our capacity for speech-motor control, are only beginning to be unraveled. Recently FOXP2 was found to regulate genes involved in retinoic acid signaling and to modify the cellular response to retinoic acid, a key regulator of brain development. Herein we explore the evidence that FOXP2 and retinoic acid signaling function in the same pathways. We present evidence at molecular, cellular and behavioral levels that suggest an interplay between FOXP2 and retinoic acid that may be important for fine motor control and speech-motor output.
We propose that retinoic acid signaling is an exciting new angle from which to investigate how neurogenetic mechanisms can contribute to the (spoken) language ready brain.

Abstract

Both categorization and segmentation processes play a crucial role in face perception. However, the functional relation between these subprocesses is currently unclear. The present study investigates the temporal relation between segmentation-related and category-selective responses in the brain, using electroencephalography (EEG). Surface segmentation and category content were both manipulated using texture-defined objects, including faces. This allowed us to study brain activity related to segmentation and to categorization. In the main experiment, participants viewed texture-defined objects for a duration of 800 ms. EEG results revealed that segmentation-related responses precede category-selective responses. Three additional experiments revealed that the presence and timing of categorization depends on stimulus properties and presentation duration. Photographic objects were presented for a long and short (92 ms) duration and evoked fast category-selective responses in both cases. On the other hand, presentation of texture-defined objects for a short duration only evoked segmentation-related but no category-selective responses. Category-selective responses were much slower when evoked by texture-defined than by photographic objects. We suggest that in case of categorization of objects under suboptimal conditions, such as when low-level stimulus properties are not sufficient for fast object categorization, segmentation facilitates the slower categorization process

Abstract

The present research investigates how consumer choice is affected by Terror Management Theory’s proposition of Mortality Salience increasing one’s cultural worldview defense and self-esteem striving. The study builds empirically upon prior theorizing by Arndt, Solomon, Kasser and Sheldon (2004). During an experiment, we manipulated Mortality Salience and measured product preferences for conspicuousness and familiarity. Participants primed with death were more likely to choose conspicuous products, corroborating previous research of mortality salience raising materialistic tendencies. In addition, participants showed a tendency to prefer familiar brands. These results are in line with the Terror Management Theory framework.

Abstract

OBJECTIVES: Deficits in response inhibition have been associated with attention-deficit/hyperactivity disorder (ADHD). Given the role of serotonin in ADHD and impulsivity, we postulated that genetic variants within the serotonin pathway might influence response inhibition. METHODS: We measured neural activation during stop-signal task performance in adolescents with ADHD (N = 185), their unaffected siblings (N = 111), and healthy controls (N = 124), and investigated the relationship of two serotonin gene polymorphisms (the rs6296 SNP of the HTR1B gene and HTTLPR variants of the 5-HTT gene) with the neural correlates of response inhibition. RESULTS: The whole-brain analyses demonstrated large scale neural activation differences in the inferior and medial frontal and temporal/parietal regions of the response inhibition network between the different variants of both the HTR1B and 5HTT genes. Activation in these regions was significantly associated with stop-task performance, but not with ADHD diagnosis or severity. No associations were found between HTR1B and 5HTT variants and ADHD or ADHD-related neural activation. CONCLUSIONS: These results provide novel evidence that serotonin may play an important role in the neurobiology of response inhibition. Although response inhibition is strongly linked to ADHD, serotonin linked genetic variants associated with response inhibition and its neural correlates do not explain variance of the ADHD phenotype.

Abstract

To test the BIA+ and Multilink models’ accounts of how bilinguals process words with different degrees of cross-linguistic orthographic and semantic overlap, we conducted two experiments manipulating stimulus list composition. Dutch-English late bilinguals performed two English lexical decision tasks including the same set of cognates, interlingual homographs, English control words, and pseudowords. In one task, half of the pseudowords were replaced with Dutch words, requiring a ‘no’ response. This change from pure to mixed language list context was found to turn cognate facilitation effects into inhibition. Relative to control words, larger effects were found for cognate pairs with an increasing cross-linguistic form overlap. Identical cognates produced considerably larger effects than non-identical cognates, supporting their special status in the bilingual lexicon. Response patterns for different item types are accounted for in terms of the items’ lexical representation and their binding to ‘yes’ and ‘no’ responses in pure vs mixed lexical decision.

Abstract

An important issue in current psycholinguistics is how the time course of utterance planning affects the generation of grammatical structures. The current study investigated the influence of parallel activation of the components of complex noun phrases on the generation of subject-verb agreement. Specifically, the lexical interference account (Gillespie, M. and Pearlmutter, N. J., 2011b and Solomon, E. S. and Pearlmutter, N. J., 2004) predicts more agreement errors (i.e., attraction) for subject phrases in which the head and local noun mismatch in number (e.g., the apple next to the pears) when nouns are planned in parallel than when they are planned in sequence. We used a speeded picture description task that yielded sentences such as the apple next to the pears is red. The objects mentioned in the noun phrase were either semantically related or unrelated. To induce agreement errors, pictures sometimes mismatched in number. In order to manipulate the likelihood of parallel processing of the objects and to test the hypothesized relationship between parallel processing and the rate of agreement errors, the pictures were either placed close together or far apart. Analyses of the participants' eye movements and speech onset latencies indicated slower processing of the first object and stronger interference from the related (compared to the unrelated) second object in the close than in the far condition. Analyses of the agreement errors yielded an attraction effect, with more errors in mismatching than in matching conditions. However, the magnitude of the attraction effect did not differ across the close and far conditions. Thus, spatial proximity encouraged parallel processing of the pictures, which led to interference of the associated conceptual and/or lexical representation, but, contrary to the prediction, it did not lead to more attraction errors.

Abstract

Objective: To study the effect of vaccination-associated seizure onset on disease course and estimate the risk of subsequent seizures after infant pertussis combination and measles, mumps, and rubella (MMR) vaccinations in Dravet syndrome (DS). Methods: We retrospectively analyzed data from hospital medical files, child health clinics, and the vaccination register for children with DS and pathogenic SCN1A mutations. Seizures within 24 hours after infant whole-cell, acellular, or nonpertussis combination vaccination or within 5 to 12 days after MMR vaccination were defined as "vaccination-associated." Risks of vaccination-associated seizures for the different vaccines were analyzed in univariable and in multivariable logistic regression for pertussis combination vaccines and by a self-controlled case series analysis using parental seizure registries for MMR vaccines. Disease courses of children with and without vaccination-associated seizure onset were compared. Results: Children who had DS (n = 77) with and without vaccination-associated seizure onset (21% and 79%, respectively) differed in age at first seizure (median 3.7 vs 6.1 months, p < 0.001) but not in age at first nonvaccination-associated seizure, age at first report of developmental delay, or cognitive outcome. The risk of subsequent vaccination-associated seizures was significantly lower for acellular pertussis (9%; odds ratio 0.18, 95% confidence interval [CI] 0.05-0.71) and nonpertussis (8%; odds ratio 0.11, 95% CI 0.02-0.59) than whole-cell pertussis (37%; reference) vaccines. Self-controlled case series analysis showed an increased incidence rate ratio of seizures of 2.3 (95% CI 1.5-3.4) within the risk period of 5 to 12 days following MMR vaccination. Conclusions: Our results suggest that vaccination-associated earlier seizure onset does not alter disease course in DS, while the risk of subsequent vaccination-associated seizures is probably vaccine-specific.

Abstract

An ongoing debate in the speech production literature suggests that the initial building block to build up speech sounds differs between languages. That is, Germanic languages are suggested to use the phoneme, but Japanese and Chinese are proposed to use the mora or syllable, respectively. Several studies investigated this matter from a chronometric perspective (i.e., RTs and accuracy). However, a less attention has been paid to the actual acoustic utterances. The current study investigated the verbal responses of two Japanese-English bilingual groups of different proficiency levels (i.e., high and low) when naming English words and found that the presence or absence of vowel epenthesis depended on proficiency. The results indicate that: (1) English word pronunciation by low-proficient Japanese English bilinguals is likely based on their L1 (Japanese) building block and (2) that future studies would benefit from analyzing the acoustic data as well when making inferences from chronometric data.

Abstract

Recent research has put forward the idea that Chinese speech production is governed by the syllable as the fundamental phonological unit. However, it may be that onset priming might be more difficult to obtain in Mandarin Chinese. Therefore, in this study, the degree of overlap between prime and target was increased from C to CV (i.e., extending beyond the phoneme) as well as whether primes and targets had an overlapping structure (CV vs. CVN). Subsyllabic priming effects were found (i.e., onset + vowel overlap but not purely onset overlap), contrasting with the claim that the syllable is the compulsory building block in the initial construction of Mandarin Chinese phonology.

Abstract

The Microsoft KINECT is a 3D sensing device originally developed for the XBOX. The Microsoft KINECT opens up many exciting new opportunities for conducting experimental research on human behavior. We investigated some of these possibilities within the field of psycholinguistics (specifically: language production) by creating software, using C#, allowing for the KINECT to be used in a typical psycholinguistic experimental setting. The results of a naming experiment using this software confirmed that the KINECT was able to measure the effects of a robust psycholinguistic variable (word frequency) on naming latencies. However, although the current version of the software is able to measure psycholinguistic variables of interest, we also discuss several points where the software can still stand to be improved. The main aim of this paper is to make the software freely available for assessment and use by the psycholinguistic community and to illustrate the KINECT as a potentially valuable tool for investigating human behavior, especially in the field of psycholinguistics.

Abstract

Learning new words is an increasingly common necessity in everyday life. External factors, among which music and social interaction are particularly debated, are claimed to facilitate this task. Due to their influence on the learner’s temporal behavior, these stimuli are able to drive the learner’s attention to the correct referent of new words at the correct point in time. However, do music and social interaction impact learning behavior in the same way? The current study aims to answer this question. Native German speakers (N = 80) were requested to learn new words (pseudo-words) during a contextual learning game. This learning task was performed alone with a computer or with a partner, with or without music. Results showed that music and social interaction had a different impact on the learner’s behavior: Participants tended to temporally coordinate their behavior more with a partner than with music, and in both cases more than with a computer. However, when both music and social interaction were present, this temporal coordination was hindered. These results suggest that while music and social interaction do influence participants’ learning behavior, they have a different impact. Moreover, impaired behavior when both music and a partner are present suggests that different mechanisms are employed to coordinate with the two types of stimuli. Whether one or the other approach is more efficient for word learning, however, is a question still requiring further investigation, as no differences were observed between conditions in a retrieval phase, which took place immediately after the learning session. This study contributes to the literature on word learning in adults by investigating two possible facilitating factors, and has important implications for situations such as music therapy, in which music and social interaction are present at the same time.

Abstract

The classic account of language is that language processing occurs in isolation from other cognitive systems, like perception, motor action, and emotion. The central theme of this paper is the relationship between a participant’s emotional state and language comprehension. Does emotional context affect how we process neutral words? Recent studies showed that processing of word meaning – traditionally conceived as an automatic process – is affected by emotional state. The influence of emotional state on syntactic processing is less clear. One study reported a mood-related P600 modulation, while another study did not observe an effect of mood on syntactic processing. The goals of this study were: First, to clarify whether and if so how mood affects syntactic processing. Second, to shed light on the underlying mechanisms by separating possible effects of mood from those of attention on syntactic processing. Event-related potentials (ERPs) were recorded while participants read syntactically correct or incorrect sentences. Mood (happy vs. sad) was manipulated by presenting film clips. Attention was manipulated by directing attention to syntactic features vs. physical features. The mood induction was effective. Interactions between mood, attention and syntactic correctness were obtained, showing that mood and attention modulated P600. The mood manipulation led to a reduction in P600 for sad as compared to happy mood when attention was directed at syntactic features. The attention manipulation led to a reduction in P600 when attention was directed at physical features compared to syntactic features for happy mood. From this we draw two conclusions: First, emotional state does affect syntactic processing. We propose mood-related differences in the reliance on heuristics as the underlying mechanism. Second, attention can contribute to emotion-related ERP effects in syntactic language processing. Therefore, future studies on the relation between language and emotion will have to control for effects of attention

Abstract

Congenital disorders of glycosylation (CDG) are a group of clinically and genetically heterogeneous metabolic disorders. Over 150 CDG types have been described. Most CDG types are ultrarare disorders. CDG types affecting N-glycosylation are the most common type of CDG with emerging therapeutic possibilities. This review is an update on the available therapies for disorders affecting the N-linked glycosylation pathway. In the first part of the review, we highlight the clinical presentation, general principles of management, and disease-specific therapies for N-linked glycosylation CDG types, organized by organ system. The second part of the review focuses on the therapeutic strategies currently available and under development. We summarize the successful (pre-) clinical application of nutritional therapies, transplantation, activated sugars, gene therapy, and pharmacological chaperones and outline the anticipated expansion of the therapeutic possibilities in CDG. We aim to provide a comprehensive update on the treatable aspects of CDG types involving N-linked glycosylation, with particular emphasis on disease-specific treatment options for the involved organ systems; call for natural history studies; and present current and future therapeutic strategies for CDG.

Abstract

Languages combine arbitrary and iconic signals. How do iconic signals emerge and when do they persist? We present an experimental study of the role of iconicity in the emergence of structure in an artificial language. Using an iterated communication game in which we control the signalling medium as well as the meaning space, we study the evolution of communicative signals in transmission chains. This sheds light on how affordances of the communication medium shape and constrain the mappability and transmissibility of form-meaning pairs. We find that iconic signals can form the building blocks for wider compositional patterns

Abstract

In an experimental study we explored the role of word frequency and orthographic constraints in the reading of Dutch bisyllabic words. Although Dutch orthography is highly regular, several deviations from a one-to-one correspondence occur. In polysyllabic words, the grapheme E may represent three different vowels: /ε /, /e/, or /œ /. In the experiment, skilled adult readers were presented lists of bisyllabic words containing the vowel E in the initial syllable and the same grapheme or another vowel in the second syllable. We expected word frequency to be related to word latency scores. On the basis of general word frequency data, we also expected the interpretation of the initial syllable as a stressed /e/ to be facilitated as compared to the interpretation of an unstressed /œ /. We found a strong negative correlation between word frequency and latency scores. Moreover, for words with E in either syllable we found a preference for a stressed /e/ interpretation, indicating a lexical frequency effect. The results are discussed with reference to a parallel dual-route model of word decoding.

Abstract

The last four decades have seen huge progress in the description and analysis of cross-linguistic diversity in the encoding of motion (Talmy 1985, 1991, Slobin 1996, 2004). Comparisons between satellite-framed and verb-framed languages suggest that satellite-framed languages typically have a larger manner of motion verb lexicon (swim, dash), while verb-framed languages typically have a larger path of motion verb lexicon (enter, cross) (Slobin 2004, Verkerk 2013, 2014b). This paper investigates how differences between the motion verb lexicons of satellite-framed and verb-framed languages emerge. Phylogenetic comparative methods adopted from biology and an etymological study are used to investigate manner verb lexicons and path verb lexicons in an Indo-European dataset. I show that manner verbs and path verbs typically have different types of etymological origins and that manner verbs emerge faster in satellite-framed subgroups, while path verbs emerge faster in verb-framed subgroups.

Abstract

The comparative approach can provide insight into the evolution of human speech, language and social communication by studying relevant traits in animal systems. Bats are emerging as a model system with great potential to shed light on these processes given their learned vocalizations, close social interactions, and mammalian brains and physiology. A recent framework outlined the multiple levels of investigation needed to understand vocal learning across a broad range of non-human species, including cetaceans, pinnipeds, elephants, birds and bats. Here, we apply this framework to the current state-of-the-art in bat research. This encompasses our understanding of the abilities bats have displayed for vocal learning, what is known about the timing and social structure needed for such learning, and current knowledge about the prevalence of the trait across the order. It also addresses the biology (vocal tract morphology, neurobiology and genetics) and evolution of this trait. We conclude by highlighting some key questions that should be answered to advance our understanding of the biological encoding and evolution of speech and spoken communication. This article is part of the theme issue 'What can animal communication teach us about human language?'

Abstract

Semantic substitution errors (e.g., saying "arm" when "leg" is intended) are among the most common types of errors occurring during spontaneous speech. It has been shown that grammatical gender of German target nouns is preserved in the errors (E. Marx, 1999). In 3 experiments, the authors explored different accounts of the grammatical gender preservation effect in German. In all experiments, semantic substitution errors were induced using a continuous naming paradigm. In Experiment 1, it was found that gender preservation disappeared when speakers produced bare nouns. Gender preservation was found when speakers produced phrases with determiners marked for gender (Experiment 2) but not when the produced determiners were not marked for gender (Experiment 3). These results are discussed in the context of models of lexical retrieval during production.

Abstract

Navigation through familiar environments can rely upon distinct neural representations that are related to different memory systems with either the hippo-campus or the caudate nucleus at their core. However,it is a fundamental question whether and how these systems interact during route recognition. To address this issue, we combined a functional neuroimaging approach with a naturally occurring, well-controlled humanmodel of caudate nucleus dysfunction (i.e., pre-clinical and early-stage Huntington’s disease). Our results reveal a noncompetitive interaction so that the hippocampus compensates for gradual caudate nucleus dysfunction with a gradual activity increase,maintaining normal behavior. Furthermore, we revealed an interaction between medial temporal and caudate activity in healthy subjects, which was adaptively modified in Huntington patients to allow compensatory hippocampal processing. Thus, the two memory systems contribute in a noncompetitive, co operative manner to route recognition, which enables Polthe hippocampus to compensate seamlessly for the functional degradation of the caudate nucleus

Abstract

A controversial issue in psycholinguistics is the degree to which speakers employ audience design during language production. Hypothesising that a consideration of the listener’s needs is particularly relevant when the listener is under cognitive load, we had speakers describe objects for a listener performing an easy or a difficult simulated driving task. We predicted that speakers would introduce more redundancy in their descriptions in the difficult driving task, thereby accommodating the listener’s reduced cognitive capacity. The results showed that speakers did not adapt their descriptions to a change in the listener’s cognitive load. However, speakers who had experienced the driving task themselves before and who were presented with the difficult driving task first were more redundant than other speakers. These findings may suggest that speakers only consider the listener’s needs in the presence of strong enough cues, and do not update their beliefs about these needs during the task.

Abstract

We investigated whether the language of instruction (Dutch or English) influenced the study success of 614 Dutch and German first-year psychology students in the Netherlands. The Dutch students who were instructed in Dutch studied in their native language (L1), the other students in a second language (L2). In addition, only the Dutch students studied in their home country. Both these variables could potentially influence study success, operationalised as the number of European Credits (ECs) the students obtained, their grades, and drop-out rates. The L1 group outperformed the three L2 groups with respect to grades, but there were no significant differences in ECs and drop-out rates (although descriptively, the L1 group still performed best). In conclusion, this study shows an advantage of studying in the L1 when it comes to grades, and thereby contributes to the current debate in the Dutch media regarding the desirability of offering degrees taught in English.

Abstract

Hoe is de complexe taal van de mens ontstaan? Geleidelijk door natuurlijke selectie, omdat groeiende grammaticale vermogens voor de mens een evolutionair voordeel opleverden? Of plotseling, als onbedoeld bijproduct of neveneffect van een genetische mutatie, zonder dat er sprake is van een adaptief proces? In dit artikel zet ik de argumenten van Pinker en Bloom voor de eerste stelling tegenover argumenten van Chomsky en Gould voor de tweede stelling. Vervolgens laat ik zien dat deze twee extreme standpunten ruimte bieden voor andere opties, die nader onderzoek waard zijn. Zo kan genetisch onderzoek in de komende decennia informatie opleveren, die nuancering van beide standpunten noodzakelijk maakt.

Abstract

Since the 1990s, the field of sign language typology has shown that sign languages exhibit typological variation at all relevant levels of linguistic description. These initial typological comparisons were heavily skewed toward the urban sign languages of developed countries, mostly in the Western world. This review reports on the recent contributions made by rural signing varieties, that is, sign languages that have evolved in village communities, often in developing countries, due to a high incidence of deafness. With respect to a number of structural properties, rural sign languages fit into previously established typological classifications. However, they also exhibit unique and typologically marked features that challenge received views on possible sign languages. At the same time, the shared features of geographically dispersed rural signing varieties provide a unique window into the social dynamics that may shape the structures of modern human languages.

Abstract

Signed utterances are densely packed with pointing signs, reaching a frequency of one in six signs in spontaneous conversations (de Vos, 2012; Johnston, 2013a; Morford & MacFarlane, 2003). These pointing signs attain a wide range of functions and are formally highly diversified. Based on corpus analysis of spontaneous pointing signs in Kata Kolok, a rural signing variety of Bali, this paper argues that the full meaning potentials of pointing signs come about through the integration of a varied set of linguistic and extralinguistic cues. Taking this hybrid nature of point- ing phenomena into account, it is argued that pointing signs may become an intrinsic aspect of sign language grammars through two mechanisms: morphemization and syntactic integration. Although not entailed in this research, this approach could implicate that some highly systema- tized pointing systems of speaking communities may to a degree be grammatical as well.

Abstract

In spoken interactions, interlocutors carefully plan and time their utterances, minimising gaps and overlaps between consecutive turns. Cross-linguistic comparison has indicated that spoken languages vary only minimally in terms of turn-timing, and language acquisition research has shown pre-linguistic vocal turn-taking in the first half year of life. These observations suggest that the turn-taking system may provide a fundamental basis for our linguistic capacities. The question remains however to what extent our capacity for rapid turn-taking is determined by modality constraints. The avoidance of overlapping turns could be motivated by the difficulty of hearing and speaking at the same time. If so, turn-taking in sign might show greater toleration for overlap. Alternatively, signed conversations may show a similar distribution of turn-timing as spoken languages, thus avoiding both gaps and overlaps. To address this question we look at turn-timing in question-answer sequences in spontaneous conversations of Sign Language of the Netherlands. The findings indicate that although there is considerable overlap in two or more signers' articulators in conversation, when proper allowance is made for onset preparation, post-utterance retraction and the intentional holding of signs for response, turn-taking latencies in sign look remarkably like those reported for spoken language. This is consistent with the possibility that, at least with regard to responses to questions, speakers and signers follow similar time courses in planning and producing their utterances in on-going conversation. This suggests that turn-taking systems may well be a shared cognitive infrastructure underlying all modern human languages, both spoken and signed.

Abstract

Understanding the genetic basis of airflow obstruction and smoking behaviour is key to determining the pathophysiology of chronic obstructive pulmonary disease (COPD). We used UK Biobank data to study the genetic causes of smoking behaviour and lung health.

Abstract

Previous research has shown that inertial cues resulting from passive transport through a large environment do not necessarily facilitate acquiring knowledge about its layout. Here we examine whether the additional body-based cues that result from active movement facilitate the acquisition of spatial knowledge. Three groups of participants learned locations along an 840-m route. One group walked the route during learning, allowing access to body-based cues (i.e., vestibular, proprioceptive, and efferent information). Another group learned by sitting in the laboratory, watching videos made from the first group. A third group watched a specially made video that minimized potentially confusing head-on-trunk rotations of the viewpoint. All groups were tested on their knowledge of directions in the environment as well as on its configural properties. Having access to body-based information reduced pointing error by a small but significant amount. Regardless of the sensory information available during learning, participants exhibited strikingly common biases.

Abstract

Using event-related potentials (ERPs), this study examines how trait information inferred from behaviors is associated with person names. In linguistic discourses, person names were associated with descriptions of either positive or negative behaviors. In a subsequent explicit evaluation task, the previously described person names were presented in isolation, and the participants were asked to judge the emotional valence of these names. We found that the names associated with positive descriptions elicited a larger positivity in the ERP than the names associated with negative descriptions. The results indicate that the emotional valence of person names attached to person perception can be dynamically influenced by short descriptions of the target person, probably due to trait inference based on the provided behavioral descriptions

Abstract

Distributional vowel training for adults has been reported as “effective” for Spanish and Bulgarian learners of Dutch vowels, in studies using a behavioural task. A recent study did not yield a similar clear learning effect for Dutch learners of the English vowel contrast /æ/~/ε/, as measured with event-related potentials (ERPs). The present study aimed to examine the possibility that the latter result was related to the method. As in the ERP study, we tested whether distributional training improved Dutch adult learners’ perception of English /æ/~/ε/. However, we measured behaviour instead of ERPs, in a design identical to that used in the previous studies with Spanish learners. The results do not support an effect of distributional training and thus “replicate” the ERP study. We conclude that it remains unclear whether distributional vowel training is effective for Dutch adults.

Abstract

Words which are expected to contain the same surface string of segments may, under identical prosodic circumstances, sometimes be realized with slight differences in duration. Some researchers have attributed such effects to differences in the words’ underlying forms (incomplete neutralization), while others have suggested orthographic influence and extremely careful speech as the cause. In this paper, we demonstrate such sub-phonemic durational differences in Dutch, a language which some past research has found not to have such effects. Past literature has also shown that listeners can often make use of incomplete neutralization to distinguish apparent homophones. We extend perceptual investigations of this topic, and show that listeners can perceive even durational differences which are not consistently observed in production. We further show that a difference which is primarily orthographic rather than underlying can also create such durational differences. We conclude that a wide variety of factors, in addition to underlying form, can induce speakers to produce slight durational differences which listeners can also use in perception.

Abstract

Asperger Syndrome (AS) is a neurodevelopmental condition characterized by impairments in social interaction and communication, alongside the presence of unusually repetitive, restricted interests and stereotyped behaviour. Individuals with AS have no delay in cognitive and language development. It is a subset of Autism Spectrum Conditions (ASC), which are highly heritable and has a population prevalence of approximately 1%. Few studies have investigated the genetic basis of AS. To address this gap in the literature, we performed a genome-wide pooled DNA association study to identify candidate loci in 612 individuals (294 cases and 318 controls) of Caucasian ancestry, using the Affymetrix GeneChip Human Mapping version 6.0 array. We identified 11 SNPs that had a p-value below 1x10-5. These SNPs were independently genotyped in the same sample. Three of the SNPs (rs1268055, rs7785891 and rs2782448) were nominally significant, though none remained significant after Bonferroni correction. Two of our top three SNPs (rs7785891 and rs2782448) lie in loci previously implicated in ASC. However, investigation of the three SNPs in the ASC genome-wide association dataset from the Psychiatric Genomics Consortium indicated that these three SNPs were not significantly associated with ASC. The effect sizes of the variants were modest, indicating that our study was not sufficiently powered to identify causal variants with precision.

Abstract

Background: Several studies have investigated the effect of known adult body mass index (BMI) associated single nucleotide polymorphisms (SNPs) on BMI in childhood. There has been no genome-wide association study (GWAS) of BMI trajectories over childhood.
Methods: We conducted a GWAS meta-analysis of BMI trajectories from 1 to 17 years of age in 9377 children (77 967 measurements) from the Avon Longitudinal Study of Parents and Children (ALSPAC) and the Western Australian Pregnancy Cohort (Raine) Study. Genome-wide significant loci were examined in a further 3918 individuals (48 530 measurements) from Northern Finland. Linear mixed effects models with smoothing splines were used in each cohort for longitudinal modelling of BMI.
Results: A novel SNP, downstream from the FAM120AOS gene on chromosome 9, was detected in the meta-analysis of ALSPAC and Raine. This association was driven by a difference in BMI at 8 years (T allele of rs944990 increased BMI; PSNP = 1.52 × 10−8), with a modest association with change in BMI over time (PWald(Change) = 0.006). Three known adult BMI-associated loci (FTO, MC4R and ADCY3) and one childhood obesity locus (OLFM4) reached genome-wide significance (PWald < 1.13 × 10−8) with BMI at 8 years and/or change over time.
Conclusions: This GWAS of BMI trajectories over childhood identified a novel locus that warrants further investigation. We also observed genome-wide significance with previously established obesity loci, making the novel observation that these loci affected both the level and the rate of change in BMI. We have demonstrated that the use of repeated measures data can increase power to allow detection of genetic loci with smaller sample sizes.

Abstract

Exposure to high levels of environmental lead, or biomarker evidence of high body lead content, is associated with anaemia, developmental and neurological deficits in children, and increased mortality in adults. Adverse effects of lead still occur despite substantial reduction in environmental exposure. There is genetic variation between individuals in blood lead concentration but the polymorphisms contributing to this have not been defined. We measured blood or erythrocyte lead content, and carried out genome-wide association analysis, on population-based cohorts of adult volunteers from Australia and UK (N = 5433). Samples from Australia were collected in two studies, in 1993–1996 and 2002–2005 and from UK in 1991–1992. One locus, at ALAD on chromosome 9, showed consistent association with blood lead across countries and evidence for multiple independent allelic effects. The most significant single nucleotide polymorphism (SNP), rs1805313 (P = 3.91 × 10−14 for lead concentration in a meta-analysis of all data), is known to have effects on ALAD expression in blood cells but other SNPs affecting ALAD expression did not affect blood lead. Variants at 12 other loci, including ABO, showed suggestive associations (5 × 10−6 >} P {> 5 × 10−8). Identification of genetic polymorphisms affecting blood lead reinforces the view that genetic factors, as well as environmental ones, are important in determining blood lead levels. The ways in which ALAD variation affects lead uptake or distribution are still to be determined.

Abstract

This article presents electrophysiological data on on-line syntactic processing during auditory sentence comprehension in patients with Broca's aphasia. Event-related brain potentials (ERPs) were recorded from the scalp while subjects listened to sentences that were either syntactically correct or contained violations of subject-verb agreement. Three groups of subjects were tested: Broca patients (n = 10), nonaphasic patients with a right-hemisphere (RH) lesion (n = 5), and healthy agedmatched controls (n = 12). The healthy, control subjects showed a P600/SPS effect as response to the agreement violations. The nonaphasic patients with an RH lesion showed essentially the same pattern. The overall group of Broca patients did not show this sensitivity. However, the sensitivity was modulated by the severity of the syntactic comprehension impairment. The largest deviation from the standard P600/SPS effect was found in the patients with the relatively more severe syntactic comprehension impairment. In addition, ERPs to tones in a classical tone oddball paradigm were also recorded. Similar to the normal control subjects and RH patients, the group of Broca patients showed a P300 effect in the tone oddball condition. This indicates that aphasia in itself does not lead to a general reduction in all cognitive ERP effects. It was concluded that deviations from the standard P600/SPS effect in the Broca patients reflected difficulties with on-line maintaining of number information across clausal boundaries for establishing subject-verb agreement.

Abstract

Induced pluripotent stem cell (iPSC) technology has emerged as an important tool in understanding, and potentially reversing, disease pathology. This is particularly true in the case of neurodegenerative diseases, in which the affected cell types are not readily accessible for study. Since the first descriptions of iPSC-based disease modelling, considerable advances have been made in understanding the aetiology and progression of a diverse array of neurodegenerative conditions, including Parkinson's disease and Alzheimer's disease. To date, however, relatively few studies have succeeded in using iPSCs to model the neurodegeneration observed in cerebellar ataxia. Given the distinct neurodevelopmental phenotypes associated with certain types of ataxia, iPSC-based models are likely to provide significant insights, not only into disease progression, but also to the development of early-intervention therapies. In this review, we describe the existing iPSC-based disease models of this heterogeneous group of conditions and explore the challenges associated with generating cerebellar neurons from iPSCs, which have thus far hindered the expansion of this research.

Abstract

Margulies et al. (2016) demonstrated the existence of at least five independent functional connectivity gradients in the human brain. However, it is unclear how these functional gradients might link to anatomy. The dual origin theory proposes that differences in cortical cytoarchitecture originate from two trends of progressive differentiation between the different layers of the cortex, referred to as the hippocampocentric and olfactocentric systems. When conceptualising the functional connectivity gradients within the evolutionary framework of the Dual Origin theory, the first gradient likely represents the hippocampocentric system anatomically. Here we expand on this concept and demonstrate that the fifth gradient likely links to the olfactocentric system. We describe the anatomy of the latter as well as the evidence to support this hypothesis. Together, the first and fifth gradients might help to model the Dual Origin theory of the human brain and inform brain models and pathologies.

Abstract

Four eye-tracking experiments examined lexical competition in non-native spoken-word recognition. Dutch listeners hearing English fixated longer on distractor pictures with names containing vowels that Dutch listeners are likely to confuse with vowels in a target picture name (pencil, given target panda) than on less confusable distractors (beetle, given target bottle). English listeners showed no such viewing time difference. The confusability was asymmetric: given pencil as target, panda did not distract more than distinct competitors. Distractors with Dutch names phonologically related to English target names (deksel, ‘lid,’ given target desk) also received longer fixations than distractors with phonologically unrelated names. Again, English listeners showed no differential effect. With the materials translated into Dutch, Dutch listeners showed no activation of the English words (desk, given target deksel). The results motivate two conclusions: native phonemic categories capture second-language input even when stored representations maintain a second-language distinction; and lexical competition is greater for non-native than for native listeners.

Abstract

Recent studies using phoneme detection tasks have shown that spoken-language processing is neither facilitated nor interfered with by optional assimilation, but is inhibited by violation of obligatory assimilation. Interpretation of these results depends on an assessment of their generality, specifically, whether they also obtain when listeners are processing nonnative language. Two separate experiments are presented in which native listeners of German and native listeners of Dutch had to detect a target fricative in legal monosyllabic Dutch nonwords. All of the nonwords were correct realisations in standard Dutch. For German listeners, however, half of the nonwords contained phoneme strings which violate the German fricative assimilation rule. Whereas the Dutch listeners showed no significant effects, German listeners detected the target fricative faster when the German fricative assimilation was violated than when no violation occurred. The results might suggest that violation of assimilation rules does not have to make processing more difficult per se.

Abstract

Two eye-tracking experiments examined linguistic gender effects in non-native spoken-word recognition. French participants, who knew German well, followed spoken instructions in German to click on pictures on a computer screen (e.g., Wo befindet sich die Perle, “where is the pearl”) while their eye movements were monitored. The name of the target picture was preceded by a gender-marked article in the instructions. When a target and a competitor picture (with phonologically similar names) were of the same gender in both German and French, French participants fixated competitor pictures more than unrelated pictures. However, when target and competitor were of the same gender in German but of different gender in French, early fixations to the competitor picture were reduced. Competitor activation in the non-native language was seemingly constrained by native gender information. German listeners showed no such viewing time difference. The results speak against a form-based account of the linguistic gender effect. They rather support the notion that the effect originates from the grammatical level of language processing.

Abstract

In this paper, we present empirical data from a corpus study on the linear order of subjects and objects in German main clauses. The aim was to establish the validity of three well-known ordering constraints: given complements tend to occur before new complements, definite before indefinite, and pronoun before full noun phrase complements. Frequencies of occurrences were derived for subject-first and object-first sentences from the German Negra corpus. While all three constraints held on subject-first sentences, results for object-first sentences varied. Our findings suggest an influence of grammatical functions on the ordering of verb complements.