Publications

Abstract

Germline mutations in PTEN, which encodes a widely expressed phosphatase, was mapped to 10q23 and identified as the susceptibility gene for Cowden syndrome, characterized by macrocephaly and high risks of breast, thyroid, and other cancers. The phenotypic spectrum of PTEN mutations expanded to include autism with macrocephaly only 10 years ago. Neurological studies of patients with PTEN-associated autism spectrum disorder (ASD) show increases in cortical white matter and a distinctive cognitive profile, including delayed language development with poor working memory and processing speed. Once a germline PTEN mutation is found, and a diagnosis of phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome made, the clinical outlook broadens to include higher lifetime risks for multiple cancers, beginning in childhood with thyroid cancer. First described as a tumor suppressor, PTEN is a major negative regulator of the phosphatidylinositol 3-kinase/protein kinase B/mammalian target of rapamycin (mTOR) signaling pathway—controlling growth, protein synthesis, and proliferation. This canonical function combines with less well-understood mechanisms to influence synaptic plasticity and neuronal cytoarchitecture. Several excellent mouse models of Pten loss or dysfunction link these neural functions to autism-like behavioral abnormalities, such as altered sociability, repetitive behaviors, and phenotypes like anxiety that are often associated with ASD in humans. These models also show the promise of mTOR inhibitors as therapeutic agents capable of reversing phenotypes ranging from overgrowth to low social behavior. Based on these findings, therapeutic options for patients with PTEN hamartoma tumor syndrome and ASD are coming into view, even as new discoveries in PTEN biology add complexity to our understanding of this master regulator.

Abstract

Synaesthesia is a neurological phenomenon affecting perception, where triggering stimuli (e.g. letters and numbers) elicit unusual secondary sensory experiences (e.g. colours). Family-based studies point to a role for genetic factors in the development of this trait. However, the contributions of common genomic variation to synaesthesia have not yet been investigated. Here, we present the SynGenes cohort, the largest genotyped collection of unrelated people with grapheme–colour synaesthesia (n = 723). Synaesthesia has been associated with a range of other neuropsychological traits, including enhanced memory and mental imagery, as well as greater sensory sensitivity. Motivated by the prior literature on putative trait overlaps, we investigated polygenic scores derived from published genome-wide scans of schizophrenia and autism spectrum disorder (ASD), comparing our SynGenes cohort to 2181 non-synaesthetic controls. We found a very slight association between schizophrenia polygenic scores and synaesthesia (Nagelkerke's R2 = 0.0047, empirical p = 0.0027) and no significant association for scores related to ASD (Nagelkerke's R2 = 0.00092, empirical p = 0.54) or body mass index (R2 = 0.00058, empirical p = 0.60), included as a negative control. As sample sizes for studying common genomic variation continue to increase, genetic investigations of the kind reported here may yield novel insights into the shared biology between synaesthesia and other traits, to complement findings from neuropsychology and brain imaging.

Abstract

Bilinguals possess the ability of expressing themselves in more than one language, and typically do so in contextually rich and dynamic settings. Theories and models have indeed long considered context factors to affect bilingual language production in many ways. However, most experimental studies in this domain have failed to fully incorporate linguistic, social, or physical context aspects, let alone combine them in the same study. Indeed, most experimental psycholinguistic research has taken place in isolated and constrained lab settings with carefully selected words or sentences, rather than under rich and naturalistic conditions. We argue that the most influential experimental paradigms in the psycholinguistic study of bilingual language production fall short of capturing the effects of context on language processing and control presupposed by prominent models. This paper therefore aims to enrich the methodological basis for investigating context aspects in current experimental paradigms and thereby move the field of bilingual language production research forward theoretically. After considering extensions of existing paradigms proposed to address context effects, we present three far-ranging innovative proposals, focusing on virtual reality, dialog situations, and multimodality in the context of bilingual language production.

Abstract

The neural response to a stimulus is influenced by endogenous factors such as expectation and attention. Current research suggests that expectation and attention exert their effects in opposite directions, where expectation decreases neural activity in sensory areas, while attention increases it. However, expectation and attention are usually studied either in isolation or confounded with each other. A recent study suggests that expectation and attention may act jointly on sensory processing, by increasing the neural response to expected events when they are attended, but decreasing it when they are unattended. Here we test this hypothesis in an auditory temporal cueing paradigm using magnetoencephalography in humans. In our study participants attended to, or away from, tones that could arrive at expected or unexpected moments. We found a decrease in auditory beta band synchrony to expected (versus unexpected) tones if they were unattended, but no difference if they were attended. Modulations in beta power were already evident prior to the expected onset times of the tones. These findings suggest that expectation and attention jointly modulate sensory processing.

Abstract

In this study, we investigate the timing of pre-answer inbreaths in order to shed light on the time course of response planning and execution in conversational turn-taking. Using acoustic and inductive plethysmography recordings of seven dyadic conversations in Dutch, we show that pre-answer inbreaths in conversation typically begin briefly after the end of questions. We also show that the presence of a pre-answer inbreath usually co-occurs with substantially delayed answers, with a modal latency of 576 ms vs. 100 ms for answers not preceded by an inbreath. Based on previously reported minimal latencies for internal intercostal activation and the production of speech sounds, we propose that vocal responses, either in the form of a pre-utterance inbreath or of speech proper when an inbreath is not produced, are typically launched in reaction to information present in the last portion of the interlocutor’s turn. We also show that short responses are usually made on residual breath, while longer responses are more often preceded by an inbreath. This relation of inbreaths to answer length suggests that by the time an inbreath is launched, typically during the last few hundred milliseconds of the question, the length of the answer is often prepared to some extent. Together, our findings are consistent with a two-stage model of response planning in conversational turn-taking: early planning of content often carried out in overlap with the incoming turn, and late launching of articulation based on the identification of turn-final cues

Abstract

We investigate the extent to which French polar questions and continuation statements, two types of utterances with similar morphosyntactic and intonational forms but different pragmatic functions, can be distinguished in conversational data based on phonetic and visual bodily information. We show that the two utterance types can be distinguished well over chance level by automatic classification models including several phonetic and visual cues. We also show that a considerable amount of relevant phonetic and visual information is present before the last portion of the utterances, potentially assisting early speech act recognition by addressees. These findings indicate that bottom-up phonetic and visual cues may play an important role during the production and recognition of speech acts alongside top-down contextual information.

Abstract

Contrary to the Gricean maxims of quantity (Grice, in: Cole, Morgan (eds) Syntax and semantics: speech acts, vol III, pp 41–58, Academic Press, New York, 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 an information-theoretic explanation for the use of over-specification in visually-situated communication, which quantifies the amount of uncertainty regarding the referent as entropy (Shannon in Bell Syst Tech J 5:10, https://doi.org/10.1002/j.1538-7305.1948.tb01338.x, 1948). Examining both the comprehension and production of over-specifications, we present evidence that (a) listeners’ processing is facilitated by the use of redundancy as well as by a greater reduction of uncertainty early on in the utterance, and (b) that at least for some speakers, listeners’ processing concerns influence their encoding of over-specifications: Speakers were more likely to use redundant adjectives when these adjectives reduced entropy to a higher degree than adjectives necessary for target identification.

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

Action, gesture, and sign represent unique aspects of human communication that use form and movement to convey meaning. Researchers typically use manual coding of video data to characterize naturalistic, meaningful movements at various levels of description, but the availability of markerless motion-tracking technology allows for quantification of the kinematic features of gestures or any meaningful human movement. We present a novel protocol for extracting a set of kinematic features from movements recorded with Microsoft Kinect. Our protocol captures spatial and temporal features, such as height, velocity, submovements/strokes, and holds. This approach is based on studies of communicative actions and gestures and attempts to capture features that are consistently implicated as important kinematic aspects of communication. We provide open-source code for the protocol, a description of how the features are calculated, a validation of these features as quantified by our protocol versus manual coders, and a discussion of how the protocol can be applied. The protocol effectively quantifies kinematic features that are important in the production (e.g., characterizing different contexts) as well as the comprehension (e.g., used by addressees to understand intent and semantics) of manual acts. The protocol can also be integrated with qualitative analysis, allowing fast and objective demarcation of movement units, providing accurate coding even of complex movements. This can be useful to clinicians, as well as to researchers studying multimodal communication or human–robot interactions. By making this protocol available, we hope to provide a tool that can be applied to understanding meaningful movement characteristics in human communication.

Abstract

Human language is extremely versatile, combining a limited set of signals in an unlimited number of ways. However, it is unknown whether conversational visual signals feed into the composite utterances with which speakers communicate their intentions. We assessed whether different combinations of visual signals lead to different intent interpretations of the same spoken utterance. Participants viewed a virtual avatar uttering spoken questions while producing single visual signals (i.e., head turn, head tilt, eyebrow raise) or combinations of these signals. After each video, participants classified the communicative intention behind the question. We found that composite utterances combining several visual signals conveyed different meaning compared to utterances accompanied by the single visual signals. However, responses to combinations of signals were more similar to the responses to related, rather than unrelated, individual signals, indicating a consistent influence of the individual visual signals on the whole. This study therefore provides first evidence for compositional, non-additive (i.e., Gestalt-like) perception of multimodal language.

Abstract

The natural ecology of language is conversation, with individuals taking turns speaking to communicate in a back-and-forth fashion. Language in this context involves strings of words that a listener must process while simultaneously planning their own next utterance. It would thus be highly advantageous if language users distributed information within an utterance in a way that may facilitate this processing–planning dynamic. While some studies have investigated how information is distributed at the level of single words or clauses, or in written language, little is known about how information is distributed within spoken utterances produced during naturalistic conversation. It also is not known how information distribution patterns of spoken utterances may differ across languages. We used a set of matched corpora (CallHome) containing 898 telephone conversations conducted in six different languages (Arabic, English, German, Japanese, Mandarin, and Spanish), analyzing more than 58,000 utterances, to assess whether there is evidence of distinct patterns of information distributions at the utterance level, and whether these patterns are similar or differed across the languages. We found that English, Spanish, and Mandarin typically show a back-loaded distribution, with higher information (i.e., surprisal) in the last half of utterances compared with the first half, while Arabic, German, and Japanese showed front-loaded distributions, with higher information in the first half compared with the last half. Additional analyses suggest that these patterns may be related to word order and rate of noun and verb usage. We additionally found that back-loaded languages have longer turn transition times (i.e.,time between speaker turns)

Abstract

Background Rapid automatised naming (RAN) and rapid alternating stimulus (RAS) are reliable predictors of reading disability. The underlying biology of reading disability is poorly understood. However, the high correlation among RAN, RAS and reading could be attributable to shared genetic factors that contribute to common biological mechanisms.

Objective To identify shared genetic factors that contribute to RAN and RAS performance using a multivariate approach.

Methods We conducted a multivariate genome-wide association analysis of RAN Objects, RAN Letters and RAS Letters/Numbers in a sample of 1331 Hispanic American and African–American youth. Follow-up neuroimaging genetic analysis of cortical regions associated with reading ability in an independent sample and epigenetic examination of extant data predicting tissue-specific functionality in the brain were also conducted.

Results Genome-wide significant effects were observed at rs1555839 (p=4.03×10−8) and replicated in an independent sample of 318 children of European ancestry. Epigenetic analysis and chromatin state models of the implicated 70 kb region of 10q23.31 support active transcription of the gene RNLS in the brain, which encodes a catecholamine metabolising protein. Chromatin contact maps of adult hippocampal tissue indicate a potential enhancer–promoter interaction regulating RNLS expression. Neuroimaging genetic analysis in an independent, multiethnic sample (n=690) showed that rs1555839 is associated with structural variation in the right inferior parietal lobule.

Conclusion This study provides support for a novel trait locus at chromosome 10q23.31 and proposes a potential gene–brain–behaviour relationship for targeted future functional analysis to understand underlying biological mechanisms for reading disability.

Abstract

The current study investigated the comprehension of subject and object relative clauses (RCs) in bilingual Mandarin-English children (N = 55, Mage = 7;5, SD = 1;8) and language-matched monolingual Mandarin-speaking children (N = 59, Mage = 5;4, SD = 0;7). The children completed a referent selection task that tested their comprehension of subject and object RCs, and standardised assessments of vocabulary knowledge. Results showed a very similar pattern of responding in both groups. In comparison to past studies of Cantonese, the bilingual and monolingual children both showed a significant subject-over-object RC advantage. An error analysis suggested that the children’s difficulty with object RCs reflected the tendency to interpret the sentential subject as the head noun. A subsequent corpus analysis suggested that children’s difficulty with object RCs may be in part due to distributional information favouring subject RC analyses. Individual differences analyses suggested cross-linguistic transfer from English to Mandarin in the bilingual children at the individual but not the group level, with the results indicating that comparative English-dominance makes children vulnerable to error

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 commonly held assumption in cognitive neuroscience is that, because measures of human brain function are closer to underlying biology than distal indices of behavior/cognition, they hold more promise for uncovering genetic pathways. Supporting this view is an influential fMRI-based study of sentence reading/listening by Pinel et al. (2012), who reported that common DNA variants in specific candidate genes were associated with altered neural activation in language-related regions of healthy individuals that carried them. In particular, different single-nucleotide polymorphisms (SNPs) of FOXP2 correlated with variation in task-based activation in left inferior frontal and precentral gyri, whereas a SNP at the KIAA0319/TTRAP/THEM2 locus was associated with variable functional asymmetry of the superior temporal sulcus. Here, we directly test each claim using a closely matched neuroimaging genetics approach in independent cohorts comprising 427 participants, four times larger than the original study of 94 participants. Despite demonstrating power to detect associations with substantially smaller effect sizes than those of the original report, we do not replicate any of the reported associations. Moreover, formal Bayesian analyses reveal substantial to strong evidence in support of the null hypothesis (no effect). We highlight key aspects of the original investigation, common to functional neuroimaging genetics studies, which could have yielded elevated false-positive rates. Genetic accounts of individual differences in cognitive functional neuroimaging are likely to be as complex as behavioral/cognitive tests, involving many common genetic variants, each of tiny effect. Reliable identification of true biological signals requires large sample sizes, power calculations, and validation in independent cohorts with equivalent paradigms.

SIGNIFICANCE STATEMENT A pervasive idea in neuroscience is that neuroimaging-based measures of brain function, being closer to underlying neurobiology, are more amenable for uncovering links to genetics. This is a core assumption of prominent studies that associate common DNA variants with altered activations in task-based fMRI, despite using samples (10–100 people) that lack power for detecting the tiny effect sizes typical of genetically complex traits. Here, we test central findings from one of the most influential prior studies. Using matching paradigms and substantially larger samples, coupled to power calculations and formal Bayesian statistics, our data strongly refute the original findings. We demonstrate that neuroimaging genetics with task-based fMRI should be subject to the same rigorous standards as studies of other complex traits.

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

Although language depends on storage and composition, just what is stored or (de)composed remains unclear. We leveraged working memory load limitations to test for composition, hypothesizing that decomposed forms should particularly tax working memory. We focused on a well-studied paradigm, English inflectional morphology. We predicted that (compositional) regulars should be harder to maintain in working memory than (non-compositional) irregulars, using a 3-back production task. Frequency, phonology, orthography, and other potentially confounding factors were controlled for. Compared to irregulars, regulars and their accompanying −s/−ing-affixed filler items yielded more errors. Underscoring the decomposition of only regulars, regulars yielded more bare-stem (e.g., walk) and stem affixation errors (walks/walking) than irregulars, whereas irregulars yielded more past-tense-form affixation errors (broughts/tolded). In line with previous evidence that regulars can be stored under certain conditions, the regular-irregular difference held specifically for phonologically consistent (not inconsistent) regulars, in particular for both low and high frequency consistent regulars in males, but only for low frequency consistent regulars in females. Sensitivity analyses suggested the findings were robust. The study further elucidates the computation of inflected forms, and introduces a simple diagnostic for linguistic composition.

Abstract

We describe a highly sensitive, quantitative, and inexpensive technique for targeted sequencing of transcript cohorts or genomic regions from thousands of bulk samples or single cells in parallel. Multiplexing is based on a simple method that produces extensive matrices of diverse DNA barcodes attached to invariant primer sets, which are all pre-selected and optimized in silico. By applying the matrices in a novel workflow named Barcode Assembly foR Targeted Sequencing (BART-Seq), we analyze developmental states of thousands of single human pluripotent stem cells, either in different maintenance media or upon Wnt/β-catenin pathway activation, which identifies the mechanisms of differentiation induction. Moreover, we apply BART-Seq to the genetic screening of breast cancer patients and identify BRCA mutations with very high precision. The processing of thousands of samples and dynamic range measurements that outperform global transcriptomics techniques makes BART-Seq first targeted sequencing technique suitable for numerous research applications.

Abstract

Adipose-derived stromal/stem cells (ASC) are multipotent with abilities to differentiate into multiple lineages including connective tissue and neural cells. Despite unlimited opportunity and needs for human and veterinary regenerative medicine, applications of adipose-derived stromal/stem cells are at present very limited. Furthermore, the fundamental biological factors regulating stemness in ASC and their stable differentiation into other tissue cells are not fully understood. The objective of this review was to provide an update on the current knowledge of the nature and isolation, molecular and epigenetic determinants of the potency, and applications of adipose-derived stromal/stem cells, as well as challenges and future directions. The first quarter of the review focuses on the nature of ASC, namely their definition, origin, isolation and sorting methods and multilineage differentiation potential, often with a comparison to mesenchymal stem cells of bone marrow. Due to the indisputable role of epigenetic regulation on cell identities, epigenetic modifications (DNA methylation, chromatin remodeling and microRNAs) are described broadly in stem cells but with a focus on ASC. The final sections provide insights into the current and potential applications of ASC in human and veterinary regenerative medicine.

Abstract

Speech prosody, the variation in sentence melody and rhythm, plays a crucial role in sentence comprehension. Specifically, changes in intonational pitch along a sentence can affect our understanding of who did what to whom. To date, it remains unclear how the brain processes this particular use of intonation and which brain regions are involved. In particular, one central matter of debate concerns the lateralisation of intonation processing. To study the role of intonation in sentence comprehension, we designed a functional MRI experiment in which participants listened to spoken sentences. Critically, the interpretation of these sentences depended on either intonational or grammatical cues. Our results
showed stronger functional activity in the left inferior frontal gyrus (IFG) when the intonational cue was crucial for sentence comprehension compared to when it was not. When instead a grammatical cue was crucial for sentence comprehension, we found involvement of an overlapping region in the left IFG, as well as in a posterior temporal
region. A further analysis revealed that the lateralisation of intonation processing depends on its role in syntactic processing: activity in the IFG was lateralised to the left hemisphere when intonation was the only source of information to comprehend the sentence. In contrast, activity in the IFG was right-lateralised when intonation did not contribute to sentence comprehension. Together, these results emphasise the key role of the left IFG in sentence comprehension, showing the importance of this region when intonation
establishes sentence structure. Furthermore, our results provide evidence for the theory
that the lateralisation of prosodic processing is modulated by its linguistic role.

Abstract

In synaesthetes specific sensory stimuli (e.g., black letters) elicit additional experiences (e.g. colour). Synaesthesia is highly prevalent among individuals with autism spectrum disorder but the mechanisms of this co-occurrence are not clear. We hypothesized autism and synaesthesia share atypical sensory sensitivity and perception. We assessed autistic traits, sensory sensitivity, and visual perception in two synaesthete populations. In Study 1, synaesthetes (N=79, of different types) scored higher than non-synaesthetes (N=76) on the Attention-to-detail and Social skills subscales of the Autism Spectrum Quotient indexing autistic traits, and on the Glasgow Sensory Questionnaire indexing sensory hypersensitivity and hyposensitivity which frequently occur in autism. Synaesthetes performed two local/global visual tasks because individuals with autism typically show a bias toward detail processing. In synaesthetes, elevated motion coherence thresholds suggested reduced global motion perception and higher accuracy on an embedded figures task suggested enhanced local perception. In Study 2 sequence-space synaesthetes (N=18) completed the same tasks. Questionnaire and embedded figures results qualitatively resembled Study 1 results but no significant group differences with non-synaesthetes (N=20) were obtained. Unexpectedly, sequence-space synaesthetes had reduced motion coherence thresholds. Altogether, our studies suggest atypical sensory sensitivity and a bias towards detail processing are shared features of synaesthesia and autism spectrum disorder.

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

In simultaneous interpreting, speech comprehension and production processes have to be coordinated in close temporal proximity. To examine the coordination, Dutch-English bilingual participants were presented with narrative fragments recorded in English at speech rates varying from 100 to 200 words per minute and they were asked to translate the fragments into Dutch (interpreting) or repeat them in English (shadowing). Interpreting yielded more errors than shadowing at every speech rate, and increasing speech rate had a stronger negative effect on interpreting than on shadowing. To understand the differential effect of speech rate, a computational model was created of sub-lexical and lexical processes in comprehension and production. Computer simulations revealed that the empirical findings could be captured by assuming a bottleneck preventing simultaneous lexical selection in production and comprehension. To conclude, our empirical and modelling results suggest the existence of a lexical bottleneck that limits the translation of narratives at high speed.

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

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

An essential phenomenon in the development towards syntactic maturity after early childhood is the increasing use of so-called sentence-combining transformations. Especially by using subordination, complex sentences are produced. The research reported here is an attempt to arrive at a more adequate characterization and explanation. Our starting point was an analysis of 280 texts written by Dutch-speaking pupils of the two highest grades of the primary school and the four lowest grades of three different types of secondary education. It was examined whether systematic shifts in the use of certain groups of so-called function words could be traced. We concluded that the development of the syntactic formulating ability can be characterized as an increase in connectivity: the use of all kinds of function words which explicitly mark logico-semantic relations between propositions. This development starts by inserting special adverbs and coordinating conjunctions resulting in various types of coordination. In a later stage, the syntactic patterning of the sentence is affected as well (various types of subordination). The increase in sentence complexity is only one aspect of the entire development. An explanation for the increase in connectivity is offered based upon a distinction between narrative and expository language use. The latter, but not the former, is characterized by frequent occurrence of connectives. The development in syntactic formulating ability includes a high level of skill in expository language use. Speed of development is determined by intensity of training, e.g. in scholastic and occupational settings.

Abstract

This study explores the effect of feedback with hints on students’ recall of words. In three classroom experiments, high school students individually practiced vocabulary words through computerized retrieval practice with either standard show-answer feedback (display of answer) or hints feedback after incorrect responses. Hints feedback gave students a second chance to find the correct response using orthographic (Experiment 1), mnemonic (Experiment 2), or cross-language hints (Experiment 3). During practice, hints led to a shift of practice time from further repetitions to longer feedback processing but did not reduce (repeated) errors. There was no effect of feedback on later recall except when the hints from practice were also available on the test, indicating limited transfer of practice with hints to later recall without hints (in Experiments 1 and 2). Overall, hints feedback was not preferable over show-answer feedback. The common notion that hints are beneficial may not hold when the total practice time is limited.

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

This paper addresses the question of whether noun incorporation is a syntactically base-generated or a syntactically derived construction. Focusing on so-called 'raised possessors' in West Greenlandic noun incorporating constructions and presenting some new data, I discuss some problems that arise if we use the derivational framework of Bittner and Hale (1996) to analyze them. I show that if we make the predication relations in noun incorporating constructions overt in their syntax and if we adopt a dynamic approach to semantics, a base-generated syntactic input enriched with a coindexation system is all that we need to arrive at an adequate semantic interpretation of these constructions.

Abstract

Although much is known about how nouns facilitate object categorization, very little is known about how verbs (e.g., posture verbs such as stand or lie) facilitate object categorization. Native Dutch speakers are a unique population to investigate this issue with because the configurational categories distinguished by staan (to stand) and liggen (to lie) are inherent in everyday Dutch language. Using an ERP component (N2pc), four experiments demonstrate that selection of posture verb categories is rapid (between 220–320 ms). The effect was attenuated, though present, when removing the perceptual distinction between categories. A similar attenuated effect was obtained in native English speakers, where the category distinction is less familiar, and when category labels were implicit for native Dutch speakers. Our results are among the first to demonstrate that category search based on verbs can be rapid, although extensive linguistic experience and explicit labels may not be necessary to facilitate categorization in this case.

Abstract

Farine and Aplin (1) question the validity of our study reporting group-specific social dynamics in chimpanzees (2). As alternative to our approach, Farine and Aplin advance a “prenetwork permutation” methodology that tests against random assortment (3). We appreciate Farine and Aplin’s interest and applied their suggested approaches to our data. The new analyses revealed highly similar results to those of our initial approach. We further dispel Farine and Aplin’s critique by outlining its incompatibility to our study system, methodology, and analysis.First, when we apply the suggested prenetwork permutation to our proximity dataset, we again find significant population-level differences in association rates, while controlling for population size [as derived from Farine and Aplin’s script (4); original result, P &lt; 0.0001; results including prenetwork permutation, P &lt; 0.0001]. Furthermore, when we … ↵1To whom correspondence may be addressed. Email: ejcvanleeuwen{at}gmail.com.

Abstract

Atypical visual segmentation, affecting object perception, might contribute to face processing problems in Autism Spectrum Disorder (ASD). The current study investigated impairments in visual segmentation of faces in ASD. Thirty participants (ASD: 16; Control: 14) viewed texture-defined faces, houses, and homogeneous images, while electroencephalographic and behavioral responses were recorded. The ASD group showed slower face-segmentation related brain activity and longer segmentation reaction times than the control group, but no difference in house-segmentation related activity or behavioral performance. Furthermore, individual differences in face-segmentation but not house-segmentation correlated with score on the Autism Quotient. Segmentation is thus selectively impaired for faces in ASD, and relates to the degree of ASD traits. Face segmentation relates to recurrent connectivity from the fusiform face area (FFA) to the visual cortex. These findings thus suggest that atypical connectivity from the FFA might contribute to delayed face processing in ASD.

Abstract

The efficiency of neuronal information transfer in activated brain networks may affect behavioral performance.
Gamma-band synchronization has been proposed to be a mechanism that facilitates neuronal processing of
behaviorally relevant stimuli. In line with this, it has been shown that strong gamma-band activity in visual
cortical areas leads to faster responses to a visual go cue. We investigated whether there are directly observable
consequences of trial-by-trial fluctuations in non-invasively observed gamma-band activity on the neuronal
response. Specifically, we hypothesized that the amplitude of the visual evoked response to a go cue can be
predicted by gamma power in the visual system, in the window preceding the evoked response. Thirty-three
human subjects (22 female) performed a visual speeded response task while their magnetoencephalogram
(MEG) was recorded. The participants had to respond to a pattern reversal of a concentric moving grating. We
estimated single trial stimulus-induced visual cortical gamma power, and correlated this with the estimated single
trial amplitude of the most prominent event-related field (ERF) peak within the first 100 ms after the pattern
reversal. In parieto-occipital cortical areas, the amplitude of the ERF correlated positively with gamma power, and
correlated negatively with reaction times. No effects were observed for the alpha and beta frequency bands,
despite clear stimulus onset induced modulation at those frequencies. These results support a mechanistic model,
in which gamma-band synchronization enhances the neuronal gain to relevant visual input, thus leading to more
efficient downstream processing and to faster responses.

Abstract

In lexical development, the specificity of phonological representations is important. The ability to build phonologically specific lexical representations predicts the number of words a child knows (vocabulary breadth), but it is not clear if it also fosters how well words are known (vocabulary depth). Sixty-six children were studied in kindergarten (age 5;7) and first grade (age 6;8). The predictive value of the ability to learn phonologically similar new words, phoneme discrimination ability, and phonological awareness on vocabulary breadth and depth were assessed using hierarchical regression. Word learning explained unique variance in kindergarten and first-grade vocabulary depth, over the other phonological factors. It did not explain unique variance in vocabulary breadth. Furthermore, even after controlling for kindergarten vocabulary breadth, kindergarten word learning still explained unique variance in first-grade vocabulary depth. Skill in learning phonologically similar words appears to predict knowledge children have about what words mean.

Abstract

Meermalen is getracht om syntactische formuleenuuirdigheid direct en objectief te meten aan de hand van gesproken of geschreven teksten. Uitgangspunt hierbij vormde in de regel de syntactische complexiteit van de geproduceerde taaluitingen. Dit heeft echter niet geleid tot een plausibele, duidelijk omschreven en praktisch bruikbare index. N.a.v. een kritische bespreking van de notie complexiteit wordt in dit artikel als nieuw criterium voorgesteld de connectiviteit van de taaluitingen; de expliciete aanduiding van logiscli-scmantische relaties tussen proposities. Connectiviteit is gemakkelijk scoorbaar aan de hand van functiewoorden die verschillende vormen van nevenschikkend en onderschikkend zinsverband markeren. Deze nieuwe index ondetrangt de kritiek die op complexiteit gegeven kon worden, blijkt duidelijk te discrimineren tussen groepen leerlingen die van elkaar verschillen naar leeftijd en opleidingsniveau, en sluit aan bij recente taalpsychologische en sociolinguïstische theorie. Tot besluit worden enige onderwijskundige implicaties aangegeven.

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

Do aesthetic preferences for images of neatly organized compositions (e.g., images collected on blogs like Things Organized Neatly©) generalize across cultures? In an earlier study, focusing on stimulus and personal properties related to order and complexity, Western participants indicated their preference for one of two simultaneously presented images (100 pairs). In the current study, we compared the data of the native Dutch-speaking participants from this earlier sample (N = 356) to newly collected data from a native Chinese-speaking sample (N = 220). Overall, aesthetic preferences were quite similar across cultures. When relating preferences for each sample to ratings of order, complexity, soothingness, and fascination collected from a Western, mainly Dutch-speaking sample, the results hint at a cross-culturally consistent preference for images that Western participants rate as more ordered, but a cross-culturally diverse relation between preferences and complexity.

Abstract

thebeat is a Python package for working with temporal sequences and rhythms in the behavioral and cognitive sciences, as well as in bioacoustics. It provides functionality for creating experimental stimuli, and for visualizing and analyzing temporal data. Sequences, sounds, and experimental trials can be generated using single lines of code. thebeat contains functions for calculating common rhythmic measures, such as interval ratios, and for producing plots, such as circular histograms. thebeat saves researchers time when creating experiments, and provides the first steps in collecting widely accepted methods for use in timing research. thebeat is an open-source, on-going, and collaborative project, and can be extended for use in specialized subfields. thebeat integrates easily with the existing Python ecosystem, allowing one to combine our tested code with custom-made scripts. The package was specifically designed to be useful for both skilled and novice programmers. thebeat provides a foundation for working with temporal sequences onto which additional functionality can be built. This combination of specificity and plasticity should facilitate research in multiple research contexts and fields of study.

Abstract

Research into strategies that can combat episodic memory decline in healthy older adults has gained widespread attention over the years. Evidence suggests that a short period of rest immediately after learning can enhance memory consolidation, as compared to engaging in cognitive tasks. However, a recent study in younger adults has shown that post-encoding engagement in a working memory task leads to the same degree of memory consolidation as from post-encoding rest. Here, we tested whether this finding can be extended to older adults. Using a delayed recognition test, we compared the memory consolidation of word–picture pairs learned prior to 9 min of rest or a 2-Back working memory task, and examined its relationship with executive functioning and mindwandering propensity. Our results show that (1) similar to younger adults, memory for the word–picture associations did not differ when encoding was followed by post-encoding rest or 2-Back task and (2) older adults with higher mindwandering propensity retained more word–picture associations encoded prior to rest relative to those encoded prior to the 2-Back task, whereas participants with lower mindwandering propensity had better memory performance for the pairs encoded prior to the 2-Back task. Overall, our results indicate that the degree of episodic memory consolidation during both active and passive post-encoding periods depends on individual mindwandering tendency.

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

It has been shown that in Germanic languages (e.g. English, Dutch) phonemes are the primary (or proximate) planning units during the early stages of phonological encoding. Contrastingly, in Chinese and Japanese the phoneme does not seem to play an important role but rather the syllable (Chinese) and mora (Japanese) are essential. However, despite the lack of behavioral evidence, neurocorrelational studies in Chinese suggested that electrophysiological brain responses (i.e. preceding overt responses) may indicate some significance for the phoneme. We investigated this matter in Japanese and our data shows that unlike in Chinese (for which the literature shows mixed effects), in Japanese both the behavioral and neurocorrelational data indicate an important role only for the mora (and not the phoneme) during the early stages of phonological encoding.

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

There is evidence from both behavior and brain activity that the way information is structured, through the use of focus, can up-regulate processing of focused constituents, likely to give prominence to the relevant aspects of the input. This is hypothesized to be universal, regardless of the different ways in which languages encode focus. In order to test this universalist hypothesis, we need to go beyond the more familiar linguistic strategies for marking focus, such as by means of intonation or specific syntactic structures (e.g., it-clefts). Therefore, in this study, we examine Makhuwa-Enahara, a Bantu language spoken in northern Mozambique, which uniquely marks focus through verbal conjugation. The participants were presented with sentences that consisted of either a semantically anomalous constituent or a semantically nonanomalous constituent. Moreover, focus on this particular constituent could be either present or absent. We observed a consistent pattern: Focused information generated a more negative N400 response than the same information in nonfocus position. This demonstrates that regardless of how focus is marked, its consequence seems to result in an upregulation of processing of information that is in focus.

Abstract

Language is a multi-faceted form of communication. It is not until recently though that language research moved on from simple stimuli and protocols toward a more ecologically valid approach, namely “shifting” from words and simple sentences to stories with varying degrees of contextual complexity. While much needed, the use of ecologically valid stimuli such as stories should also be explored in interactive rather than individualistic experimental settings leading the way to an interactive neuroscience of language. Indeed, mounting evidence suggests that cognitive processes and their underlying neural activity significantly differ between social and individual experiences. We aim at reviewing evidence, which indicates that the characteristics of linguistic and extra-linguistic contexts may significantly influence communication–including spoken language comprehension. In doing so, we provide evidence on the use of new paradigms and methodological advancements that may enable the study of complex language features in a truly interactive, ecological way.

Abstract

In a multi- and inter-cultural world, we daily encounter new words. Adult learners often rely on a situational context to learn and understand a new word's meaning. Here, we explored whether interactive learning facilitates word learning by directing the learner's attention to a correct new word referent when a situational context is non-informative. We predicted larger involvement of inferior parietal, frontal, and visual cortices involved in visuo-spatial attention during interactive learning. We scanned participants while they played a visual word learning game with and without a social partner. As hypothesized, interactive learning enhanced activity in the right Supramarginal Gyrus when the situational context provided little information. Activity in the right Inferior Frontal Gyrus during interactive learning correlated with post-scanning behavioral test scores, while these scores correlated with activity in the Fusiform Gyrus in the non-interactive group. These results indicate that attention is involved in interactive learning when the situational context is minimal and suggest that individual learning processes may be largely different from interactive ones. As such, they challenge the ecological validity of what we know about individual learning and advocate the exploration of interactive learning in naturalistic settings.

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

Interpreting polygenic overlap between ADHD and both literacy-related and language-related impairments is challenging as genetic associations might be influenced by indirectly shared genetic factors. Here, we investigate genetic overlap between polygenic ADHD risk and multiple literacy-related and/or language-related abilities (LRAs), as assessed in UK children (N ≤ 5919), accounting for genetically predictable educational attainment (EA). Genome-wide summary statistics on clinical ADHD and years of schooling were obtained from large consortia (N ≤ 326,041). Our findings show that ADHD-polygenic scores (ADHD-PGS) were inversely associated with LRAs in ALSPAC, most consistently with reading-related abilities, and explained ≤1.6% phenotypic variation. These polygenic links were then dissected into both ADHD effects shared with and independent of EA, using multivariable regressions (MVR). Conditional on EA, polygenic ADHD risk remained associated with multiple reading and/or spelling abilities, phonemic awareness and verbal intelligence, but not listening comprehension and non-word repetition. Using conservative ADHD-instruments (P-threshold < 5 × 10−8), this corresponded, for example, to a 0.35 SD decrease in pooled reading performance per log-odds in ADHD-liability (P = 9.2 × 10−5). Using subthreshold ADHD-instruments (P-threshold < 0.0015), these effects became smaller, with a 0.03 SD decrease per log-odds in ADHD risk (P = 1.4 × 10−6), although the predictive accuracy increased. However, polygenic ADHD-effects shared with EA were of equal strength and at least equal magnitude compared to those independent of EA, for all LRAs studied, and detectable using subthreshold instruments. Thus, ADHD-related polygenic links with LRAs are to a large extent due to shared genetic effects with EA, although there is evidence for an ADHD-specific association profile, independent of EA, that primarily involves literacy-related impairments.

Abstract

Background

The number of words children produce (expressive vocabulary) and understand (receptive vocabulary) changes rapidly during early development, partially due to genetic factors. Here, we performed a meta–genome-wide association study of vocabulary acquisition and investigated polygenic overlap with literacy, cognition, developmental phenotypes, and neurodevelopmental conditions, including attention-deficit/hyperactivity disorder (ADHD).

Methods

We studied 37,913 parent-reported vocabulary size measures (English, Dutch, Danish) for 17,298 children of European descent. Meta-analyses were performed for early-phase expressive (infancy, 15–18 months), late-phase expressive (toddlerhood, 24–38 months), and late-phase receptive (toddlerhood, 24–38 months) vocabulary. Subsequently, we estimated single nucleotide polymorphism–based heritability (SNP-h2) and genetic correlations (rg) and modeled underlying factor structures with multivariate models.

Results

Early-life vocabulary size was modestly heritable (SNP-h2 = 0.08–0.24). Genetic overlap between infant expressive and toddler receptive vocabulary was negligible (rg = 0.07), although each measure was moderately related to toddler expressive vocabulary (rg = 0.69 and rg = 0.67, respectively), suggesting a multifactorial genetic architecture. Both infant and toddler expressive vocabulary were genetically linked to literacy (e.g., spelling: rg = 0.58 and rg = 0.79, respectively), underlining genetic similarity. However, a genetic association of early-life vocabulary with educational attainment and intelligence emerged only during toddlerhood (e.g., receptive vocabulary and intelligence: rg = 0.36). Increased ADHD risk was genetically associated with larger infant expressive vocabulary (rg = 0.23). Multivariate genetic models in the ALSPAC (Avon Longitudinal Study of Parents and Children) cohort confirmed this finding for ADHD symptoms (e.g., at age 13; rg = 0.54) but showed that the association effect reversed for toddler receptive vocabulary (rg = −0.74), highlighting developmental heterogeneity.

Conclusions

The genetic architecture of early-life vocabulary changes during development, shaping polygenic association patterns with later-life ADHD, literacy, and cognition-related traits.

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

Strategies used in artificial grammar learning can shed light into the abilities of different species to extract regularities from the environment. In the A(X)nB rule, A and B items are linked, but assigned to different positional categories and separated by distractor items. Open questions are how widespread is the ability to extract positional regularities from A(X)nB patterns, which strategies are used to encode positional regularities and whether individuals exhibit preferences for absolute or relative position encoding. We used visual arrays to investigate whether cotton-top tamarins (Saguinusoedipus) can learn this rule and which strategies they use. After training on a subset of exemplars, two of the tested monkeys successfully generalized to novel combinations. These tamarins discriminated between categories of tokens with different properties (A, B, X) and detected a positional relationship between non-adjacent items even in the presence of novel distractors. The pattern of errors revealed that successful subjects used visual similarity with training stimuli to solve the task and that successful tamarins extracted the relative position of As and Bs rather than their absolute position, similarly to what has been observed in other species. Relative position encoding appears to be favoured in different tasks and taxa. Generalization, though, was incomplete, since we observed a failure with items that during training had always been presented in reinforced arrays, showing the limitations in grasping the underlying positional rule. These results suggest the use of local strategies in the extraction of positional rules in cotton-top tamarins.

Abstract

In bonobos, strong bonds have been documented between unrelated females and between mothers
and their adult sons, which can have important fitness benefits. Often age, sex or kinship similarity
have been used to explain social bond strength variation. Recent studies in other species also stress
the importance of personality, but this relationship remains to be investigated in bonobos. We used
behavioral observations on 39 adult and adolescent bonobos housed in 5 European zoos to study the
role of personality similarity in dyadic relationship quality. Dimension reduction analyses on individual
and dyadic behavioral scores revealed multidimensional personality (Sociability, Openness, Boldness,
Activity) and relationship quality components (value, compatibility). We show that, aside from
relatedness and sex combination of the dyad, relationship quality is also associated with personality
similarity of both partners. While similarity in Sociability resulted in higher relationship values, lower
relationship compatibility was found between bonobos with similar Activity scores. The results of this
study expand our understanding of the mechanisms underlying social bond formation in anthropoid
apes. In addition, we suggest that future studies in closely related species like chimpanzees should
implement identical methods for assessing bond strength to shed further light on the evolution of this
phenomenon.

Abstract

Three experiments investigated semantic and syntactic effects in the production of phrases in Dutch. Bilingual participants were presented with English nouns and were asked to produce an adjective + noun phrase in Dutch including the translation of the noun. In 2 experiments, the authors blocked items by either semantic category or grammatical gender. Participants performed the task slower when the target nouns were of the same semantic category than when they were from different categories and faster when the target nouns had the same gender than when they had different genders. In a final experiment, both manipulations were crossed. The authors replicated the results of the first 2 experiments, and no interaction was found. These findings suggest a feedforward flow of activation between lexico-semantic and lexico-syntactic information.

Abstract

Graded interference effects were tested in a naming task, in parallel for objects and actions. Participants named either object or action pictures presented in the context of other pictures (blocks) that were either semantically very similar, or somewhat semantically similar or semantically dissimilar. We found that naming latencies for both object and action words were modulated by the semantic similarity between the exemplars in each block, providing evidence in both domains of graded semantic effects.

Abstract

ABSTRACTWe investigated to what extent L2 word learning in spoken interaction takes place when learners are unaware of taking part in a language learning study. Using a novel paradigm for approximating naturalistic (but not necessarily non-intentional) L2 learning in the lab, German learners of Dutch were led to believe that the study concerned judging the price of objects. Dutch target words (object names) were selected individually such that these words were unknown to the respective participant. Then, in a dialogue-like task with the experimenter, the participants were first exposed to and then tested on the target words. In comparison to a no-input control group, we observed a clear learning effect especially from the first two exposures, and better learning for cognates than for non-cognates, but no modulating effect of the exposure-production lag. Moreover, some of the acquired knowledge persisted over a six-month period.

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

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

During early lactation, dairy cows have a negative energy balance since their energy demands exceed their energy intake: in this study, we aimed to investigate the association between diet and plasma metabolomics profiles and how these relate to energy unbalance of course in the early-lactation stage. Holstein-Friesian cows were randomly assigned to a glucogenic (n = 15) or lipogenic (n = 15) diet in early lactation. Blood was collected in week 2 and week 4 after calving. Plasma metabolite profiles were detected using liquid chromatography–mass spectrometry (LC-MS), and a total of 39 metabolites were identified. Two plasma metabolomic profiles were available every week for each cow. Metabolite abundance and metabolite ratios were used for the analysis using the XGboost algorithm to discriminate between diet treatment and lactation week. Using metabolite ratios resulted in better discrimination performance compared with the metabolite abundances in assigning cows to a lipogenic diet or a glucogenic diet. The quality of the discrimination of performance of lipogenic diet and glucogenic diet effects improved from 0.606 to 0.753 and from 0.696 to 0.842 in week 2 and week 4 (as measured by area under the curve, AUC), when the metabolite abundance ratios were used instead of abundances. The top discriminating ratios for diet were the ratio of arginine to tyrosine and the ratio of aspartic acid to valine in week 2 and week 4, respectively. For cows fed the lipogenic diet, choline and the ratio of creatinine to tryptophan were top features to discriminate cows in week 2 vs. week 4. For cows fed the glucogenic diet, methionine and the ratio of 4-hydroxyproline to choline were top features to discriminate dietary effects in week 2 or week 4. This study shows the added value of using metabolite abundance ratios to discriminate between lipogenic and glucogenic diet and lactation weeks in early-lactation cows when using metabolomics data. The application of this research will help to accurately regulate the nutrition of lactating dairy cows and promote sustainable agricultural development.

Abstract

Magnetic resonance spectroscopy (MRS) is the primary method that can measure the levels of metabolites in the brain in vivo. To achieve its potential in clinical usage, the reliability of the measurement requires further articulation. Although there are many studies that investigate the reliability of gamma-aminobutyric acid (GABA), comparatively few studies have investigated the reliability of other brain metabolites, such as glutamate (Glu), N-acetyl-aspartate (NAA), creatine (Cr), phosphocreatine (PCr), or myo-inositol (mI), which all play a significant role in brain development and functions. In addition, previous studies which predominately used only two measurements (two data points) failed to provide the details of the time effect (e.g., time-of-day) on MRS measurement within subjects. Therefore, in this study, MRS data located in the anterior cingulate cortex (ACC) were repeatedly recorded across 1 year leading to at least 25 sessions for each subject with the aim of exploring the variability of other metabolites by using the index coefficient of variability (CV); the smaller the CV, the more reliable the measurements. We found that the metabolites of NAA, tNAA, and tCr showed the smallest CVs (between 1.43% and 4.90%), and the metabolites of Glu, Glx, mI, and tCho showed modest CVs (between 4.26% and 7.89%). Furthermore, we found that the concentration reference of the ratio to water results in smaller CVs compared to the ratio to tCr. In addition, we did not find any time-of-day effect on the MRS measurements. Collectively, the results of this study indicate that the MRS measurement is reasonably reliable in quantifying the levels of metabolites.

Abstract

Background

Transcutaneous vagus nerve stimulation (tVNS) is a new, non-invasive technique being investigated as an intervention for a variety of clinical disorders, including epilepsy and depression. It is thought to exert its therapeutic effect by increasing central norepinephrine (NE) activity, but the evidence supporting this notion is limited.
Objective

In order to test for an impact of tVNS on psychophysiological and hormonal indices of noradrenergic function, we applied tVNS in concert with assessment of salivary alpha amylase (SAA) and cortisol, pupil size, and electroencephalograph (EEG) recordings.
Methods

Across three experiments, we applied real and sham tVNS to 61 healthy participants while they performed a set of simple stimulus-discrimination tasks. Before and after the task, as well as during one break, participants provided saliva samples and had their pupil size recorded. EEG was recorded throughout the task. The target for tVNS was the cymba conchae, which is heavily innervated by the auricular branch of the vagus nerve. Sham stimulation was applied to the ear lobe.
Results

P3 amplitude was not affected by tVNS (Experiment 1A: N=24; Experiment 1B: N=20; Bayes factor supporting null model=4.53), nor was pupil size (Experiment 2: N=16; interaction of treatment and time: p=0.79). However, tVNS increased SAA (Experiments 1A and 2: N=25) and attenuated the decline of salivary cortisol compared to sham (Experiment 2: N=17), as indicated by significant interactions involving treatment and time (p=.023 and p=.040, respectively).
Conclusion

These findings suggest that tVNS modulates hormonal indices but not psychophysiological indices of noradrenergic function.

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

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

Previous studies have shown that spoken-language processing is inhibited by violation of obligatory regressive assimilation. Weber (2001) replicated this inhibitory effect in a phoneme-monitoring study examining regressive place assimilation of nasals, but found facilitation for violation of progressive assimilation. German listeners detected the velar fricative [x] more quickly when fricative assimilation was violated (e.g., *[bIxt] or *[blInx@n]) than when no violation occurred (e.g., [baxt] or [blu:x@n]). It was argued that a combination of two factors caused facilitation:(1) progressive assimilation creates different restrictions for the monitoring target than regressive assimilation does, and (2) the sequences violating assimilation (e.g., *[Ix]) are novel for German listeners and therefore facilitate fricative detection (novel popout). The present study tested progressive assimilation violation in non-novel sequences using the palatal fricative [C]. Stimuli either violated fricative assimilation (e.g., *[ba:C@l ]) or did not (e.g., [bi: C@l ]). This manipulation does not create novel sequences: sequences like *[a:C] can occur across word boundaries, while *[Ix] cannot. No facilitation was found. However, violation also did not significantly inhibit processing. The results confirm that facilitation depends on the combination of progressive assimilation with novelty of the sequence.

Abstract

New linguistic information must be integrated into our existing language system. Using a novel experimental task that incorporates a syntactic priming paradigm into artificial language learning, we investigated how new grammatical regularities and words are learned. This innovation allowed us to control the language input the learner received, while the syntactic priming paradigm provided insight into the nature of the underlying syntactic processing machinery. The results of the present study pointed to facilitatory syntactic processing effects within the first days of learning: Syntactic and lexical priming effects revealed participants’ sensitivity to both novel words and word orders. This suggested that novel syntactic structures and their meaning (form–function mapping) can be acquired rapidly through incidental learning. More generally, our study indicated similar mechanisms for learning and processing in both artificial and natural languages, with implications for the relationship between first and second language learning.

Abstract

Introduction
Words are not processed in isolation but in rich contexts that are used to modulate and facilitate language comprehension. Here, we investigate distinct neural networks underlying two types of contexts, the current linguistic environment and verb‐based syntactic preferences.

Methods
We had two main manipulations. The first was the current linguistic environment, where the relative frequencies of two syntactic structures (prepositional object [PO] and double‐object [DO]) would either follow everyday linguistic experience or not. The second concerned the preference toward one or the other structure depending on the verb; learned in everyday language use and stored in memory. German participants were reading PO and DO sentences in German while brain activity was measured with functional magnetic resonance imaging.

Results
First, the anterior cingulate cortex (ACC) showed a pattern of activation that integrated the current linguistic environment with everyday linguistic experience. When the input did not match everyday experience, the unexpected frequent structure showed higher activation in the ACC than the other conditions and more connectivity from the ACC to posterior parts of the language network. Second, verb‐based surprisal of seeing a structure given a verb (PO verb preference but DO structure presentation) resulted, within the language network (left inferior frontal and left middle/superior temporal gyrus) and the precuneus, in increased activation compared to a predictable verb‐structure pairing.

Conclusion
In conclusion, (1) beyond the canonical language network, brain areas engaged in prediction and error signaling, such as the ACC, might use the statistics of syntactic structures to modulate language processing, (2) the language network is directly engaged in processing verb preferences. These two networks show distinct influences on sentence processing.

Abstract

Rapid advances over the last decade in DNA sequencing and statistical genetics enable us to investigate the genomic makeup of individuals throughout history. In a recent notable study, Begg et al.1 used Ludwig van Beethoven’s hair strands for genome sequencing and explored genetic predispositions for some of his documented medical issues. Given that it was arguably Beethoven’s skills as a musician and composer that made him an iconic figure in Western culture, we here extend the approach and apply it to musicality. We use this as an example to illustrate the broader challenges of individual-level genetic predictions.

Abstract

In this paper, we report an experiment on the naming of household containers in Dutch and Icelandic carried out as part of the Evolution of Semantic Systems project (EoSS; Majid et al., 2011). This naming experiment allows us to support and elaborate on a hypothesis by Malt et al. (2003) that productive morphology in the naming domain can have an influence on boundary placement within the extensional space. Specifically, we demonstrate that the Dutch diminutive -(t)je favours a cut between small items versus others, whereas Icelandic, which does not use the diminutive in this domain, favours a cut between large items and others. This is not a typological effect, as Dutch and Icelandic are both Germanic languages and both have diminutive morphology available in principle. We find no evidence that the diminutive produces a proliferation of terms and/or fine-grained nesting within the extensional domain. Rather, the Dutch diminutive favours a more even distribution of terms across the space whereas Icelandic favours broad inclusive terms with a number of narrower specialist terms. Further, the extensional space defined by the diminutive is not associated with its own clear prototypical exemplar. Using evidence from compounding and modification, we also consider which semantic features are prominent in differentiating categories within the domain. By far the most prominent in both languages is the inferred contents of the container. Other than contents, however, the languages differ in the range and prominence of features such as intended usage or material of composition. Our results demonstrate that in order to understand the processes that produce semantic divisions of basic object classes, we should consider fine-grained analyses of closely related languages alongside analyses of typologically different languages.

Abstract

Iconic words and signs are characterized by a perceived resemblance between aspects of their form and aspects of their meaning. For example, in English, iconic words include peep and crash, which mimic the sounds they denote, and wiggle and zigzag, which mimic motion. As a semiotic property of words and signs, iconicity has been demonstrated to play a role in word learning, language processing, and language evolution. This paper presents the results of a large-scale norming study for more than 14,000 English words conducted with over 1400 American English speakers. We demonstrate the utility of these ratings by replicating a number of existing findings showing that iconicity ratings are related to age of acquisition, sensory modality, semantic neighborhood density, structural markedness, and playfulness. We discuss possible use cases and limitations of the rating dataset, which is made publicly available.

Abstract

Vocal learning is a behavioral trait in which the social and acoustic environment shapes the vocal repertoire of individuals. Over the past century, the study of vocal learning has progressed at the intersection of ecology, physiology, neuroscience, molecular biology, genomics, and evolution. Yet, despite the complexity of this trait, vocal learning is frequently described as a binary trait, with species being classified as either vocal learners or vocal non-learners. As a result, studies have largely focused on a handful of species for which strong evidence for vocal learning exists. Recent studies, however, suggest a continuum in vocal learning capacity across taxa. Here, we further suggest that vocal learning is a multi-component behavioral phenotype comprised of distinct yet interconnected modules. Discretizing the vocal learning phenotype into its constituent modules would facilitate integration of findings across a wider diversity of species, taking advantage of the ways in which each excels in a particular module, or in a specific combination of features. Such comparative studies can improve understanding of the mechanisms and evolutionary origins of vocal learning. We propose an initial set of vocal learning modules supported by behavioral and neurobiological data and highlight the need for diversifying the field in order to disentangle the complexity of the vocal learning phenotype.

Abstract

Impaired emotion regulation may underlie exaggerated emotional reactivity in patients with obsessive compulsive disorder (OCD), yet instructed emotion regulation has never been studied in the disorder. METHOD: This study aimed to assess the neural correlates of emotion processing and regulation in 43 medication-free OCD patients and 38 matched healthy controls, and additionally test if these can be modulated by stimulatory (patients) and inhibitory (controls) repetitive transcranial magnetic stimulation (rTMS) over the left dorsolateral prefrontal cortex (dlPFC). Participants performed an emotion regulation task during functional magnetic resonance imaging before and after a single session of randomly assigned real or sham rTMS. Effect of group and rTMS were assessed on self-reported distress ratings and brain activity in frontal-limbic regions of interest. RESULTS: Patients had higher distress ratings than controls during emotion provocation, but similar rates of distress reduction after voluntary emotion regulation. OCD patients compared with controls showed altered amygdala responsiveness during symptom provocation and diminished left dlPFC activity and frontal-amygdala connectivity during emotion regulation. Real v. sham dlPFC stimulation differentially modulated frontal-amygdala connectivity during emotion regulation in OCD patients. CONCLUSIONS: We propose that the increased emotional reactivity in OCD may be due to a deficit in emotion regulation caused by a failure of cognitive control exerted by the dorsal frontal cortex. Modulatory rTMS over the left dlPFC may influence automatic emotion regulation capabilities by influencing frontal-limbic connectivity.

Abstract

In three cross-modal priming experiments we asked whether adaptation to a foreign-accented speaker is automatic, and whether adaptation can be seen after a long delay between initial exposure and test. Dutch listeners were exposed to a Hebrew-accented Dutch speaker with two types of Dutch words: those that contained [ɪ] (globally accented words), and those in which the Dutch [i] was shortened to [ɪ] (specific accent marker words). Experiment 1, which served as a baseline, showed that native Dutch participants showed facilitatory priming for globally accented, but not specific accent, words. In experiment 2, participants performed a 3.5-minute phoneme monitoring task, and were tested on their comprehension of the accented speaker 24 hours later using the same cross-modal priming task as in experiment 1. During the phoneme monitoring task, listeners were asked to detect a consonant that was not strongly accented. In experiment 3, the delay between exposure and test was extended to 1 week. Listeners in experiments 2 and 3 showed facilitatory priming for both globally accented and specific accent marker words. Together, these results show that adaptation to a foreign-accented speaker can be rapid and automatic, and can be observed after a prolonged delay in testing.

Abstract

To identify genetic variants associated with refractive astigmatism in the general population, meta-analyses of genome-wide association studies were performed for: White Europeans aged at least 25 years (20 cohorts, N = 31,968); Asian subjects aged at least 25 years (7 cohorts, N = 9,295); White Europeans aged <25 years (4 cohorts, N = 5,640); and all independent individuals from the above three samples combined with a sample of Chinese subjects aged <25 years (N = 45,931). Participants were classified as cases with refractive astigmatism if the average cylinder power in their two eyes was at least 1.00 diopter and as controls otherwise. Genome-wide association analysis was carried out for each cohort separately using logistic regression. Meta-analysis was conducted using a fixed effects model. In the older European group the most strongly associated marker was downstream of the neurexin-1 (NRXN1) gene (rs1401327, P = 3.92E−8). No other region reached genome-wide significance, and association signals were lower for the younger European group and Asian group. In the meta-analysis of all cohorts, no marker reached genome-wide significance: The most strongly associated regions were, NRXN1 (rs1401327, P = 2.93E−07), TOX (rs7823467, P = 3.47E−07) and LINC00340 (rs12212674, P = 1.49E−06). For 34 markers identified in prior GWAS for spherical equivalent refractive error, the beta coefficients for genotype versus spherical equivalent, and genotype versus refractive astigmatism, were highly correlated (r = −0.59, P = 2.10E−04). This work revealed no consistent or strong genetic signals for refractive astigmatism; however, the TOX gene region previously identified in GWAS for spherical equivalent refractive error was the second most strongly associated region. Analysis of additional markers provided evidence supporting widespread genetic co-susceptibility for spherical and astigmatic refractive errors.

Abstract

In het onderwijs wordt aangenomen dat hardop en stillezen dezelfde processen zijn. In dit onderzoek wordt gekeken naar het verschil tussen hardop en stillezen wat betreft leessnelheid en tekstbegrip bij 90 kinderen uit groep 4. Ook wordt de invloed van de cognitieve vaardigheden fonologisch bewustzijn, benoemsnelheid en visuele aandachtsspanne op de verschillende leesmodi onderzocht. De participanten lazen stil sneller, maar begrepen de tekst beter hardop. De cognitieve vaardigheden correleerden met hardop en stillezen wat betreft leessnelheid, maar hingen in beide leesmodi niet samen met tekstbegrip. Hoewel hardop en stillezen samenhangen, onderstrepen deze bevindingen dat het verschillende leesmodi zijn.

Abstract

This study aimed to increase our understanding on the relationship between reading and listening comprehension. Both in comprehension theory and in educational practice, reading and listening comprehension are often seen as interchangeable, overlooking modality-specific aspects of them separately. Three questions were addressed. First, it was examined to what extent reading and listening comprehension comprise modality-specific, distinct skills or an overlapping, domain-general skill in terms of the amount of explained variance in one comprehension type by the opposite comprehension type. Second, general and modality-unique subskills of reading and listening comprehension were sought by assessing the contributions of the foundational skills word reading fluency, vocabulary, memory, attention, and inhibition to both comprehension types. Lastly, the practice of using either listening comprehension or vocabulary as a proxy of general comprehension was investigated. Reading and listening comprehension tasks with the same format were assessed in 85 second and third grade children. Analyses revealed that reading comprehension explained 34% of the variance in listening comprehension, and listening comprehension 40% of reading comprehension. Vocabulary and word reading fluency were found to be shared contributors to both reading and listening comprehension. None of the other cognitive skills contributed significantly to reading or listening comprehension. These results indicate that only part of the comprehension process is indeed domain-general and not influenced by the modality in which the information is provided. Especially vocabulary seems to play a large role in this domain-general part. The findings warrant a more prominent focus of modality-specific aspects of both reading and listening comprehension in research and education.

Abstract

For bilinguals, speaking in a second language (L2) compared to the native language (L1) is usually more difficult. In this study we asked whether the difficulty in L2 production reflects increased demands imposed on domain-general or core language mechanisms. We compared the brain response to speech production in L1 and L2 within two functionally-defined networks in the brain: the Multiple Demand (MD) network and the language network. We found that speech production in L2 was linked to a widespread increase of brain activity in the domain-general MD network. The language network did not show a similarly robust differences in processing speech in the two languages, however, we found increased response to L2 production in the language-specific portion of the left inferior frontal gyrus (IFG). To further explore our results, we have looked at domain-general and language-specific response within the brain structures postulated to form a Bilingual Language Control (BLC) network. Within this network, we found a robust increase in response to L2 in the domain-general, but also in some language-specific voxels including in the left IFG. Our findings show that L2 production strongly engages domain-general mechanisms, but only affects language sensitive portions of the left IFG. These results put constraints on the current model of bilingual language control by precisely disentangling the domain-general and language-specific contributions to the difficulty in speech production in L2.