Publications

Abstract

Population-based linkage analysis is a new method for analysing genomewide single nucleotide polymorphism (SNP) genotype data in case-control samples, which does not assume a common disease, common variant model. The genome is scanned for extended segments that show increased identity-by-descent sharing within case-case pairs, relative to case-control or control-control pairs. The method is robust to allelic heterogeneity and is suited to mapping genes which contain multiple, rare susceptibility variants of relatively high penetrance. We analysed genomewide SNP datasets for two schizophrenia case-control cohorts, collected in Aberdeen (461 cases, 459 controls) and Munich (429 cases, 428 controls). Population-based linkage testing must be performed within homogeneous samples and it was therefore necessary to analyse the cohorts separately. Each cohort was first subjected to several procedures to improve genetic homogeneity, including identity-by-state outlier detection and multidimensional scaling analysis. When testing only cases who reported a positive family history of major psychiatric disease, consistent with a model of strongly penetrant susceptibility alleles, we saw a distinct peak on chromosome 19q in both cohorts that appeared in meta-analysis (P=0.000016) to surpass the traditional level for genomewide significance for complex trait linkage. The linkage signal was also present in a third case-control sample for familial bipolar disorder, such that meta-analysing all three datasets together yielded a linkage P=0.0000026. A model of rare but highly penetrant disease alleles may be more applicable to some instances of major psychiatric diseases than the common disease common variant model, and we therefore suggest that other genome scan datasets are analysed with this new, complementary method.

Abstract

Attention deficit/hyperactivity disorder (ADHD) is one of the most common neuropsychiatric disorders with a worldwide prevalence around 4–5% in children and 1–4% in adults. Although ADHD is highly heritable and familial risk may contribute most strongly to the persistent form of the disorder, there are few studies on the genetics of ADHD in adults. In this paper, we present the first results of the International Multicentre Persistent ADHD Genetics CollaboraTion (IMpACT) that has been set up with the goal of performing research into the genetics of persistent ADHD. In this study, we carried out a combined analysis as well as a meta-analysis of the association of the SLC6A3/DAT1 gene with persistent ADHD in 1440 patients and 1769 controls from IMpACT and an earlier report. DAT1, encoding the dopamine transporter, is one of the most frequently studied genes in ADHD, though results have been inconsistent. A variable number tandem repeat polymorphism (VNTR) in the 3′-untranslated region (UTR) of the gene and, more recently, a haplotype of this VNTR with another VNTR in intron 8 have been the target of most studies. Although the 10/10 genotype of the 3′-UTR VNTR and the 10-6 haplotype of the two VNTRs are thought to be risk factors for ADHD in children, we found the 9/9 genotype and the 9-6 haplotype associated with persistent ADHD. In conclusion, a differential association of DAT1 with ADHD in children and in adults might help explain the inconsistencies observed in earlier association studies. However, the data might also imply that DAT1 has a modulatory rather than causative role in ADHD.

Abstract

Previous research on the effect of perturbed auditory feedback in speech production has focused on two types of responses. In the short term, speakers generate compensatory motor commands in response to unexpected perturbations. In the longer term, speakers adapt feedforward motor programmes in response to feedback perturbations, to avoid future errors. The current study investigated the relation between these two types of responses to altered auditory feedback. Specifically, it was hypothesised that consistency in previous feedback perturbations would influence whether speakers adapt their feedforward motor programmes. In an altered auditory feedback paradigm, formant perturbations were applied either across all trials (the consistent condition) or only to some trials, whereas the others remained unperturbed (the inconsistent condition). The results showed that speakers’ responses were affected by feedback consistency, with stronger speech changes in the consistent condition compared with the inconsistent condition. Current models of speech-motor control can explain this consistency effect. However, the data also suggest that compensation and adaptation are distinct processes, which are not in line with all current models.

Abstract

To identify genetic variants associated with birth weight, we meta-analyzed six genome-wide association (GWA) studies (n = 10,623 Europeans from pregnancy/birth cohorts) and followed up two lead signals in 13 replication studies (n = 27,591). rs900400 near LEKR1 and CCNL1 (P = 2 x 10(-35)) and rs9883204 in ADCY5 (P = 7 x 10(-15)) were robustly associated with birth weight. Correlated SNPs in ADCY5 were recently implicated in regulation of glucose levels and susceptibility to type 2 diabetes, providing evidence that the well-described association between lower birth weight and subsequent type 2 diabetes has a genetic component, distinct from the proposed role of programming by maternal nutrition. Using data from both SNPs, we found that the 9% of Europeans carrying four birth weight-lowering alleles were, on average, 113 g (95% CI 89-137 g) lighter at birth than the 24% with zero or one alleles (P(trend) = 7 x 10(-30)). The impact on birth weight is similar to that of a mother smoking 4-5 cigarettes per day in the third trimester of pregnancy.

Abstract

Kleefstra syndrome (KS) is a neurodevelopmental disorder caused by mutations in the histone methyltransferase EHMT1. To study the impact of decreased EHMT1 function in human cells, we generated excitatory cortical neurons from induced pluripotent stem (iPS) cells derived from KS patients. Neuronal networks of patient-derived cells exhibit network bursting with a reduced rate, longer duration, and increased temporal irregularity compared to control networks. We show that these changes are mediated by upregulation of NMDA receptor (NMDAR) subunit 1 correlating with reduced deposition of the repressive H3K9me2 mark, the catalytic product of EHMT1, at the GRIN1 promoter. In mice EHMT1 deficiency leads to similar neuronal network impairments with increased NMDAR function. Finally, we rescue the KS patient-derived neuronal network phenotypes by pharmacological inhibition of NMDARs. Summarized, we demonstrate a direct link between EHMT1 deficiency and NMDAR hyperfunction in human neurons, providing a potential basis for more targeted therapeutic approaches for KS.

Abstract

Disruptions of the FOXP2 gene cause a speech and language disorder involving difficulties in sequencing orofacial movements. FOXP2 is expressed in cortico-striatal and cortico-cerebellar circuits important for fine motor skills, and affected individuals show abnormalities in these brain regions. We selectively disrupted Foxp2 in the cerebellar Purkinje cells, striatum or cortex of mice and assessed the effects on skilled motor behaviour using an operant lever-pressing task. Foxp2 loss in each region impacted behaviour differently, with striatal and Purkinje cell disruptions affecting the variability and the speed of lever-press sequences, respectively. Mice lacking Foxp2 in Purkinje cells showed a prominent phenotype involving slowed lever pressing as well as deficits in skilled locomotion. In vivo recordings from Purkinje cells uncovered an increased simple spike firing rate and decreased modulation of firing during limb movements. This was caused by increased intrinsic excitability rather than changes in excitatory or inhibitory inputs. Our findings show that Foxp2 can modulate different aspects of motor behaviour in distinct brain regions, and uncover an unknown role for Foxp2 in the modulation of Purkinje cell activity that severely impacts skilled movements.

Abstract

Disruptions of the FOXP2 gene cause a rare speech and language disorder, a discovery that has opened up novel avenues for investigating the relevant neural pathways. FOXP2 shows remarkably high conservation of sequence and neural expression in diverse vertebrates, suggesting that studies in other species are useful in elucidating its functions. Here we describe how investigations of mice that carry disruptions of Foxp2 provide insights at multiple levels: molecules, cells, circuits and behaviour. Work thus far has implicated the gene in key processes including neurite outgrowth, synaptic plasticity, sensorimotor integration and motor-skill learning.

Abstract

High frequency words have been suggested to benefit both speech segmentation and grammatical categorization of the words around them. Despite utilizing similar information, these tasks are usually investigated separately in studies examining learning. We determined whether including high frequency words in continuous speech could support categorization when words are being segmented for the first time. We familiarized learners with continuous artificial speech comprising repetitions of target words, which were preceded by high-frequency marker words. Crucially, marker words distinguished targets into 2 distributionally defined categories. We measured learning with segmentation and categorization tests and compared performance against a control group that heard the artificial speech without these marker words (i.e., just the targets, with no cues for categorization). Participants segmented the target words from speech in both conditions, but critically when the marker words were present, they influenced acquisition of word-referent mappings in a subsequent transfer task, with participants demonstrating better early learning for mappings that were consistent (rather than inconsistent) with the distributional categories. We propose that high-frequency words may assist early grammatical categorization, while speech segmentation is still being learned.

Abstract

Cumulative tool-based culture underwrote our species' evolutionary success and tool-based nut-cracking is one of the strongest candidates for cultural transmission in our closest relatives, chimpanzees. However the social learning processes that may explain both the similarities and differences between the species remain unclear. A previous study of nut-cracking by initially naïve chimpanzees suggested that a learning chimpanzee holding no hammer nevertheless replicated hammering actions it witnessed. This observation has potentially important implications for the nature of the social learning processes and underlying motor coding involved. In the present study, model and observer actions were quantified frame-by-frame and analysed with stringent statistical methods, demonstrating synchrony between the observer's and model's movements, cross-correlation of these movements above chance level and a unidirectional transmission process from model to observer. These results provide the first quantitative evidence for motor mimicking underlain by motor coding in apes, with implications for mirror neuron function.

Abstract

Previous research on language development shows that children are tuned early on to the language-specific semantic and syntactic encoding of events in their native language. Here we ask whether language-specificity is also evident in children's early representations in gesture accompanying speech. In a longitudinal study, we examined the spontaneous speech and cospeech gestures of eight Turkish-speaking children aged one to three and focused on their caused motion event expressions. In Turkish, unlike in English, the main semantic elements of caused motion such as Action and Path can be encoded in the verb (e.g. sok- ‘put in’) and the arguments of a verb can be easily omitted. We found that Turkish-speaking children's speech indeed displayed these language-specific features and focused on verbs to encode caused motion. More interestingly, we found that their early gestures also manifested specificity. Children used iconic cospeech gestures (from 19 months onwards) as often as pointing gestures and represented semantic elements such as Action with Figure and/or Path that reinforced or supplemented speech in language-specific ways until the age of three. In the light of previous reports on the scarcity of iconic gestures in English-speaking children's early productions, we argue that the language children learn shapes gestures and how they get integrated with speech in the first three years of life.

Abstract

Several studies report an association between REM Sleep Behavior Disorder (RBD) and neurodegenerative diseases, in particular synucleinopathies. Interestingly, the onset of RBD precedes the development of neurodegeneration by several years. This review and meta-analysis aims to establish the rate of conversion of RBD into neurodegenerative diseases. Longitudinal studies were searched from the PubMed, Web of Science, and SCOPUS databases. Using random-effect modeling, we performed a meta-analysis on the rate of RBD conversions into neurodegeneration. Furthermore, we fitted a Kaplan-Meier analysis and compared the differences between survival curves of different diseases with log-rank tests. The risk for developing neurodegenerative diseases was 33.5% at five years follow-up, 82.4% at 10.5 years and 96.6% at 14 years. The average conversion rate was 31.95% after a mean duration of follow-up of 4.75 ± 2.43 years. The majority of RBD patients converted to Parkinson's Disease (43%), followed by Dementia with Lewy Bodies (25%). The estimated risk for RBD patients to develop a neurodegenerative disease over a long-term follow-up is more than 90%. Future studies should include control group for the evaluation of REM sleep without atonia as marker for neurodegeneration also in non-clinical population and target RBD as precursor of neurodegeneration to develop protective trials.

Abstract

As the popularity of sending messages electronically increases, so does the necessity of conveying messages more efficiently. One way of increasing efficiency is to abbreviate words and expressions by combining letters with numbers such as gr8 for “great,” using acronyms, such as lol for “laughing out loud,” or clippings such as msg for “message.” The present study compares the processing of shortcuts to the processing of closely matched pseudo-shortcuts. ERPs were recorded while participants were performing a lexical decision task. Response times showed that shortcuts were categorized more slowly as nonwords than pseudo-shortcuts. The ERP results showed no differences between shortcuts and pseudo-shortcuts at time windows 50–150 ms and 150–270 ms, but there were significant differences between 270 and 500 ms. These results suggest that at early stages of word recognition, the orthographic and phonological processing is similar for shortcuts and pseudo-shortcuts. However, at the time of lexical access, shortcuts diverge from pseudo-shortcuts, suggesting that shortcuts activate stored lexical representations.

Abstract

The current event-related brain potential study examined the processing of observed speech errors.
Participants were asked to detect errors in the speech of others while listening to the description of a visual
network. Networks consisted of colored drawings of objects connected by straight or curved lines. We
investigated the processing of two types of errors in the network descriptions, i.e., incorrect color and errors
in determiners usage (gender agreement violations). In the 100- to 300-ms and 300- to 550-ms time
windows, we found larger PMN and N400 amplitudes for both color and determiner error trials compared to
correct trials. Furthermore, color but not determiner errors led to larger P600 amplitudes compared to
correct color trials. Color errors also showed enhanced P600 amplitudes compared to determiner errors.
Taken together, processing erroneous network descriptions elicits different brain potentials than listening to
the corresponding correct utterances. Hence, speech is monitored for errors not only during speech
production but also during listening to the naturally occurring speech of others.

Abstract

For efficiency reasons, words in electronic messages are sometimes formed by combining letters with numbers, as in gr8 for “great.” The aim of this study was to investigate whether a digit incorporated into a letter—digit shortcut would retain its numerosity. A priming paradigm was used with letter—digit shortcuts (e.g., gr8) and matched pseudoshortcuts (e.g., qr8) as primes. The primes were presented simultaneously with sets of dots (targets) for which even/odd decisions were required, or they appeared 250 msec before target onset. When pseudoshortcuts were presented, decision latencies were shorter when the target and the digit in the prime were matched in parity than when they were mismatched. This main effect of match was not significant for shortcuts. The results suggest that the number concepts of digits combined with letters become activated but are quickly suppressed or deactivated when the digit is part of an existing shortcut.

Abstract

This study investigated how sentence formulation is influenced by a preceding discourse context. In two eye-tracking experiments, participants described pictures of two-character transitive events in Dutch (Experiment 1) and Chinese (Experiment 2). Focus was manipulated by presenting questions before each picture. In the Neutral condition, participants first heard ‘What is happening here?’ In the Object or Subject Focus conditions, the questions asked about the Object or Subject character (What is the policeman stopping? Who is stopping the truck?). The target response was the same in all conditions (The policeman is stopping the truck). In both experiments, sentence formulation in the Neutral condition showed the expected pattern of speakers fixating the subject character (policeman) before the object character (truck). In contrast, in the focus conditions speakers rapidly directed their gaze preferentially only to the character they needed to encode to answer the question (the new, or focused, character). The timing of gaze shifts to the new character varied by language group (Dutch vs. Chinese): shifts to the new character occurred earlier when information in the question can be repeated in the response with the same syntactic structure (in Chinese but not in Dutch). The results show that discourse affects the timecourse of linguistic formulation in simple sentences and that these effects can be modulated by language-specific linguistic structures such as parallels in the syntax of questions and declarative sentences.

Abstract

Researchers have long avoided neurophysiological experiments of overt speech production due to the suspicion that artifacts caused by muscle activity may lead to a bad signal-to-noise ratio in the measurements. However, the need to actually produce speech may influence earlier processing and qualitatively change speech production processes and what we can infer from neurophysiological measures thereof. Recently, however, overt speech has been successfully investigated using EEG, MEG, and fMRI. The aim of this Research Topic is to draw together recent research on the neurophysiological basis of language production, with the aim of developing and extending theoretical accounts of the language production process. In this Research Topic of Frontiers in Language Sciences, we invite both experimental and review papers, as well as those about the latest methods in acquisition and analysis of overt language production data. All aspects of language production are welcome: i.e., from conceptualization to articulation during native as well as multilingual language production. Focus should be placed on using the neurophysiological data to inform questions about the processing stages of language production. In addition, emphasis should be placed on the extent to which the identified components of the electrophysiological signal (e.g., ERP/ERF, neuronal oscillations, etc.), brain areas or networks are related to language comprehension and other cognitive domains. By bringing together electrophysiological and neuroimaging evidence on language production mechanisms, a more complete picture of the locus of language production processes and their temporal and neurophysiological signatures will emerge.

Abstract

Learning to read a second language (L2) can pose a great challenge for children who have already been struggling to read in their first language (L1). Moreover, it is not clear whether, to what extent, and under what circumstances L1 reading difficulty increases the risk of L2 reading difficulty. This study investigated Chinese (L1) and English (L2) reading skills in a large representative sample of 1,824 Chinese–English bilingual children in Grades 4 and 5 from both urban and rural schools in Beijing. We examined the prevalence of reading difficulty in Chinese only (poor Chinese readers, PC), English only (poor English readers, PE), and both Chinese and English (poor bilingual readers, PB) and calculated the co-occurrence, that is, the chances of becoming a poor reader in English given that the child was already a poor reader in Chinese. We then conducted a multinomial logistic regression analysis and compared the prevalence of PC, PE, and PB between children in Grade 4 versus Grade 5, in urban versus rural areas, and in boys versus girls. Results showed that compared to girls, boys demonstrated significantly higher risk of PC, PE, and PB. Meanwhile, compared to the 5th graders, the 4th graders demonstrated significantly higher risk of PC and PB. In addition, children enrolled in the urban schools were more likely to become better second language readers, thus leading to a concerning rural–urban gap in the prevalence of L2 reading difficulty. Finally, among these Chinese–English bilingual children, regardless of sex and school location, poor reading skill in Chinese significantly increased the risk of also being a poor English reader, with a considerable and stable co-occurrence of approximately 36%. In sum, this study suggests that despite striking differences between alphabetic and logographic writing systems, L1 reading difficulty still significantly increases the risk of L2 reading difficulty. This indicates the shared meta-linguistic skills in reading different writing systems and the importance of understanding the universality and the interdependent relationship of reading between different writing systems. Furthermore, the male disadvantage (in both L1 and L2) and the urban–rural gap (in L2) found in the prevalence of reading difficulty calls for special attention to disadvantaged populations in educational practice.

Abstract

Previous research shows conflicting findings for the effect of font readability on comprehension and memory for language. It has been found that—perhaps counterintuitively–a hard to read font can be beneficial for language comprehension, especially for difficult language. Here we test how font readability influences the subjective experience of poetry reading. In three experiments we tested the influence of poem difficulty and font readability on the subjective experience of poems. We specifically predicted that font readability would have opposite effects on the subjective experience of easy versus difficult poems. Participants read poems which could be more or less difficult in terms of conceptual or structural aspects, and which were presented in a font that was either easy or more difficult to read. Participants read existing poems and subsequently rated their subjective experience (measured through four dependent variables: overall liking, perceived flow of the poem, perceived topic clarity, and perceived structure). In line with previous literature we observed a Poem Difficulty x Font Readability interaction effect for subjective measures of poetry reading. We found that participants rated easy poems as nicer when presented in an easy to read font, as compared to when presented in a hard to read font. Despite the presence of the interaction effect, we did not observe the predicted opposite effect for more difficult poems. We conclude that font readability can influence reading of easy and more difficult poems differentially, with strongest effects for easy poems.

Abstract

It is a common finding across languages that young children have problems in understanding patient-initial sentences. We used Tagalog, a verb-initial language with a reliable voice-marking system and highly frequent patient voice constructions, to test the predictions of several accounts that have been proposed to explain this difficulty: the frequency account, the Competition Model, and the incremental processing account. Study 1 presents an analysis of Tagalog child-directed speech, which showed that the dominant argument order is agent-before-patient and that morphosyntactic markers are highly valid cues to thematic role assignment. In Study 2, we used a combined self-paced listening and picture verification task to test how Tagalog-speaking adults and 5- and 7-year-old children process reversible transitive sentences. Results showed that adults performed well in all conditions, while children’s accuracy and listening times for the first noun phrase indicated more difficulty in interpreting patient-initial sentences in the agent voice compared to the patient voice. The patient voice advantage is partly explained by both the frequency account and incremental processing account.

Abstract

The constraints that govern acceptable phoneme combinations in speech perception and production have considerable plasticity. We addressed whether sleep influences the acquisition of new constraints and their integration into the speech-production system. Participants repeated sequences of syllables in which two phonemes were artificially restricted to syllable onset or syllable coda, depending on the vowel in that sequence. After 48 sequences, participants either had a 90-min nap or remained awake. Participants then repeated 96 sequences so implicit constraint learning could be examined, and then were tested for constraint generalization in a forced-choice task. The sleep group, but not the wake group, produced speech errors at test that were consistent with restrictions on the placement of phonemes in training. Furthermore, only the sleep group generalized their learning to new materials. Polysomnography data showed that implicit constraint learning was associated with slow-wave sleep. These results show that sleep facilitates the integration of new linguistic knowledge with existing production constraints. These data have relevance for systems-consolidation models of sleep.

Abstract

Heterozygous mutations of the human FOXP2 gene are implicated in a severe speech and language disorder. Aetiological mutations of murine Foxp2 yield abnormal synaptic plasticity and impaired motor-skill learning in mutant mice, while knockdown of the avian orthologue in songbirds interferes with auditory-guided vocal learning. Here, we investigate influences of two distinct Foxp2 point mutations on vocalizations of 4-day-old mouse pups (Mus musculus). The R552H missense mutation is identical to that causing speech and language deficits in a large well-studied human family, while the S321X nonsense mutation represents a null allele that does not produce Foxp2 protein. We ask whether vocalizations, based solely on innate mechanisms of production, are affected by these alternative Foxp2 mutations. Sound recordings were taken in two different situations: isolation and distress, eliciting a range of call types, including broadband vocalizations of varying noise content, ultrasonic whistles and clicks. Sound production rates and several acoustic parameters showed that, despite absence of functional Foxp2, homozygous mutants could vocalize all types of sounds in a normal temporal pattern, but only at comparably low intensities. We suggest that altered vocal output of these homozygotes may be secondary to developmental delays and somatic weakness. Heterozygous mutants did not differ from wild-types in any of the measures that we studied (R552H ) or in only a few (S321X ), which were in the range of differences routinely observed for different mouse strains. Thus, Foxp2 is not essential for the innate production of emotional vocalizations with largely normal acoustic properties by mouse pups.

Abstract

The way the human brain represents speech in memory is still unknown. An obvious characteristic of speech is its evolvement over time.
During speech processing, neural oscillations are modulated by the temporal properties of the acoustic speech signal, but also acquired
knowledge on the temporal structure of language influences speech perception-related brain activity. This suggests that speech could be
represented in the temporal domain, a form of representation that the brain also uses to encode autobiographic memories. Empirical
evidence for such a memory code is lacking. We investigated the nature of speech memory representations using direct cortical recordings
in the left perisylvian cortex during delayed sentence reproduction in female and male patients undergoing awake tumor surgery.
Our results reveal that the brain endogenously represents speech in the temporal domain. Temporal pattern similarity analyses revealed
that the phase of frontotemporal low-frequency oscillations, primarily in the beta range, represents sentence identity in working memory.
The positive relationship between beta power during working memory and task performance suggests that working memory
representations benefit from increased phase separation.

Abstract

An endophenotype for attention deficit/hyperactivity disorder (AD/HD) is executive functioning. In the autism and developmental literature executive dysfunctions has also been linked to theory of mind (ToM) and pragmatic language use. The central question of this review is whether deficits in ToM and pragmatic language use are common in AD/HD. AD/HD seems to be associated with pragmatic deficits, but not with ToM deficits. In this review we address how this pattern of findings might facilitate the understanding of the commonalities and differences between executive functioning, ToM, and pragmatic abilities. Based on the reviewed studies we conclude that ToM is not likely to be a potential endophenotype for AD/HD, while it is too early to draw such a conclusion for pragmatic language use.

Abstract

Developmental dyslexia (DD) is one of the most prevalent learning disorders, with high impact on school and psychosocial development and high comorbidity with conditions like attention-deficit hyperactivity disorder (ADHD), depression, and anxiety. DD is characterized by deficits in different cognitive skills, including word reading, spelling, rapid naming, and phonology. To investigate the genetic basis of DD, we conducted a genome-wide association study (GWAS) of these skills within one of the largest studies available, including nine cohorts of reading-impaired and typically developing children of European ancestry (N = 2562–3468). We observed a genome-wide significant effect (p < 1 × 10−8) on rapid automatized naming of letters (RANlet) for variants on 18q12.2, within MIR924HG (micro-RNA 924 host gene; rs17663182 p = 4.73 × 10−9), and a suggestive association on 8q12.3 within NKAIN3 (encoding a cation transporter; rs16928927, p = 2.25 × 10−8). rs17663182 (18q12.2) also showed genome-wide significant multivariate associations with RAN measures (p = 1.15 × 10−8) and with all the cognitive traits tested (p = 3.07 × 10−8), suggesting (relational) pleiotropic effects of this variant. A polygenic risk score (PRS) analysis revealed significant genetic overlaps of some of the DD-related traits with educational attainment (EDUyears) and ADHD. Reading and spelling abilities were positively associated with EDUyears (p ~ [10−5–10−7]) and negatively associated with ADHD PRS (p ~ [10−8−10−17]). This corroborates a long-standing hypothesis on the partly shared genetic etiology of DD and ADHD, at the genome-wide level. Our findings suggest new candidate DD susceptibility genes and provide new insights into the genetics of dyslexia and its comorbities.

Abstract

Reading and language abilities are heritable traits that are likely to share some genetic influences with each other. To identify pleiotropic genetic variants affecting these traits, we first performed a Genome-wide Association Scan (GWAS) meta-analysis using three richly characterised datasets comprising individuals with histories of reading or language problems, and their siblings. GWAS was performed in a total of 1862 participants using the first principal component computed from several quantitative measures of reading- and language-related abilities, both before and after adjustment for performance IQ. We identified novel suggestive associations at the SNPs rs59197085 and rs5995177 (uncorrected p≈10−7 for each SNP), located respectively at the CCDC136/FLNC and RBFOX2 genes. Each of these SNPs then showed evidence for effects across multiple reading and language traits in univariate association testing against the individual traits. FLNC encodes a structural protein involved in cytoskeleton remodelling, while RBFOX2 is an important regulator of alternative splicing in neurons. The CCDC136/FLNC locus showed association with a comparable reading/language measure in an independent sample of 6434 participants from the general population, although involving distinct alleles of the associated SNP. Our datasets will form an important part of on-going international efforts to identify genes contributing to reading and language skills.

Abstract

Irrelevant speech impairs the immediate serial recall of visually presented material. Previously, we have shown that the irrelevant speech effect (ISE) was associated with a relative decrease of regional blood flow in cortical regions subserving the verbal working memory, in particular the superior temporal cortex. In this extension of the previous study, the working memory load was increased and an increased activity as a response to irrelevant speech was noted in the dorsolateral prefrontal cortex. We suggest that the two studies together provide some basic insights as to the nature of the irrelevant speech effect. Firstly, no area in the brain can be ascribed as the single locus of the irrelevant speech effect. Instead, the functional neuroanatomical substrate to the effect can be characterized in terms of changes in networks of functionally interrelated areas. Secondly, the areas that are sensitive to the irrelevant speech effect are also generically activated by the verbal working memory task itself. Finally, the impact of irrelevant speech and related brain activity depends on working memory load as indicated by the differences between the present and the previous study. From a brain perspective, the irrelevant speech effect may represent a complex phenomenon that is a composite of several underlying mechanisms, which depending on the working memory load, include top-down inhibition as well as recruitment of compensatory support and control processes. We suggest that, in the low-load condition, a selection process by an inhibitory top-down modulation is sufficient, whereas in the high-load condition, at or above working memory span, auxiliary adaptive cognitive resources are recruited as compensation

Abstract

BACKGROUND: It is unclear to what extent non-clinical psychotic experiences during childhood and adolescence share underlying aetiological mechanisms with schizophrenia. One candidate mechanism for schizophrenia involves the epigenetic status of the developing fetus, which depends on the internal folate-status of mother and child. Our study examines the relationships between multiple determinants of perinatal folate-status and development of psychotic experiences in adolescence. METHODS: Study participants were up to 5344 mother-child pairs from the Avon Longitudinal Study of Parents and their Children, UK, with information on maternal and/or child MTHFR C677T genotype, maternal folate intake (supplementation at 18/32- weeks gestation; dietary intake at 32- weeks gestation) and psychosis-like symptoms (PLIKS) for children assessed at age 12. RESULTS: Nominal evidence was observed that maternal folate supplementation at 18 weeks increased the odds of PLIKS in children (odds ratio(OR)=1.34; 95%-CI:[1.00;1.76]) and, consistent with this, that children of MTHFR C667T TT homozygous mothers had decreased odds of PLIKS (OR=0.72; 95%CI:[0.50;1.02]; recessive model) with strongest effects in boys (OR=0.44, 95%-CI:[0.22;0.79]; sex-specific p=0.029). None of the reported effects remained significant when corrected for multiple testing. CONCLUSIONS: Overall, this study found no support that maternal/child MTHFR C677T genotype and maternal folate intake during pregnancy contribute to common aetiological pathways that are shared between schizophrenia and non-clinical psychotic symptoms in adolescents, assuming that decreased folate-status increases schizophrenia risk.

Abstract

PURPOSE: Conduct problems and peer effects are among the strongest risk factors for adolescent substance use and problem use. However, it is unclear to what extent the effects of conduct problems and peer behavior interact, and whether adolescents' capacity to refuse the offer of substances may moderate such links. This study was conducted to examine relationships between conduct problems, close friends' substance use, and refusal assertiveness with adolescents' alcohol use problems, tobacco, and marijuana use. METHODS: We studied a population-based sample of 1,237 individuals from the Cardiff Study of All Wales and North West of England Twins aged 11-18 years. Adolescent and mother-reported information was obtained. Statistical analyses included cross-sectional and prospective logistic regression models and family-based permutations. RESULTS: Conduct problems and close friends' substance use were associated with increased adolescents' substance use, whereas refusal assertiveness was associated with lower use of cigarettes, alcohol, and marijuana. Peer substance use moderated the relationship between conduct problems and alcohol use problems, such that conduct problems were only related to increased risk for alcohol use problems in the presence of substance-using friends. This effect was found in both cross-sectional and prospective analyses and confirmed using the permutation approach. CONCLUSIONS: Reduced opportunities for interaction with alcohol-using peers may lower the risk of alcohol use problems in adolescents with conduct problems.

Abstract

Patterns formed by reaction-diffusion mechanisms are crucial for the development or sustenance of most organisms in nature. Patterns include dynamic waves, but are more often found as static distributions, such as animal skin patterns. Yet, a simplistic biological model system to reproduce and quantitatively investigate static reaction-diffusion patterns has been missing so far. Here, we demonstrate that the Escherichia coli MM system, known for its oscillatory behavior between the cell poles, is under certain conditions capable of transitioning to quasi-stationary protein distributions on membranes closely resembling Turing patterns. We systematically titrated both proteins, MinD and MinE, and found that removing all purification tags and linkers from the N-terminus of MinE was critical for static patterns to occur. At small bulk heights, dynamic patterns dominate, such as in rod-shaped microcompartments. We see implications of this work for studying pattern formation in general, but also for creating artificial gradients as downstream cues in synthetic biology applications.

Abstract

Interactive models of language production predict that it should be possible to observe long-distance interactions; effects that arise at one level of processing influence multiple subsequent stages of representation and processing. We examine the hypothesis that disruptions arising in nonform-based levels of planning—specifically, lexical selection—should modulate articulatory processing. A novel automatic phonetic analysis method was used to examine productions in a paradigm yielding both general disruptions to formulation processes and, more specifically, overt errors during lexical selection. This analysis method allowed us to examine articulatory disruptions at multiple levels of analysis, from whole words to individual segments. Baseline performance by young adults was contrasted with young speakers’ performance under time pressure (which previous work has argued increases interaction between planning and articulation) and performance by older adults (who may have difficulties inhibiting nontarget representations, leading to heightened interactive effects). The results revealed the presence of interactive effects. Our new analysis techniques revealed these effects were strongest in initial portions of responses, suggesting that speech is initiated as soon as the first segment has been planned. Interactive effects did not increase under response pressure, suggesting interaction between planning and articulation is relatively fixed. Unexpectedly, lexical selection disruptions appeared to yield some degree of facilitation in articulatory processing (possibly reflecting semantic facilitation of target retrieval) and older adults showed weaker, not stronger interactive effects (possibly reflecting weakened connections between lexical and form-level representations).

Abstract

Chicks can convey information about their needs with calls. But it is still unknown if there are any universal need indicators in chick vocalizations. Previous studies have shown that in some species vocal activity and/or temporal-frequency variables of calls are related to the chick state, whereas other studies did not confirm it. Here, we tested experimentally whether vocal activity and temporal-frequency variables of calls change with cooling. We studied 10 human-raised
Siberian crane (Grus leucogeranus) chicks at 3–15 days of age. We found that the cooled chicks produced calls higher in fundamental
frequency and power variables, longer in duration and at a higher calling rate than in the control chicks. However, we did not find
significant changes in level of entropy and occurrence of non-linear phenomena in chick calls recorded during the experimental cooling. We suggest that the level of vocal activity is a universal indicator of need for warmth in precocial and semi-precocial birds (e.g. cranes), but not in altricial ones. We also assume that coding of needs via temporal-frequency variables of calls is typical in species whose adults could not confuse their chicks with other chicks. Siberian cranes stay on separate territories during their breeding season, so parents do not need to check individuality of their offspring in the home area. In this case, all call characteristics are available for other purposes and serve to communicate chicks’ vital needs.

Abstract

Semantic verbal fluency tasks are commonly used in neuropsychological assessment. Investigations of the influence of level of literacy have not yielded consistent results in the literature. This prompted us to investigate the ecological relevance of task specifics, in particular, the choice of semantic criteria used. Two groups of literate and illiterate subjects were compared on two verbal fluency tasks using different semantic criteria. The performance on a food criterion (supermarket fluency task), considered more ecologically relevant for the two literacy groups, and an animal criterion (animal fluency task) were compared. The data were analysed using both quantitative and qualitative measures. The quantitative analysis indicated that the two literacy groups performed equally well on the supermarket fluency task. In contrast, results differed significantly during the animal fluency task. The qualitative analyses indicated differences between groups related to the strategies used, especially with respect to the animal fluency task. The overall results suggest that there is not a substantial difference between literate and illiterate subjects related to the fundamental workings of semantic memory. However, there is indication that the content of semantic memory reflects differences in shared cultural background - in other words, formal education –, as indicated by the significant interaction between level of literacy and semantic criterion.

Abstract

Previous studies have described the existence of a phonotactic bias called the Labial–Coronal (LC) bias, corresponding to a tendency to produce more words beginning with a labial consonant followed by a coronal consonant (i.e. “bat”) than the opposite CL pattern (i.e. “tap”). This bias has initially been interpreted in terms of articulatory constraints of the human speech production system. However, more recently, it has been suggested that this presumably language-general LC bias in production might be accompanied by LC and CL biases in perception, acquired in infancy on the basis of the properties of the linguistic input. The present study investigates the origins of these perceptual biases, testing infants learning Japanese, a language that has been claimed to possess more CL than LC sequences, and comparing them with infants learning French, a language showing a clear LC bias in its lexicon. First, a corpus analysis of Japanese IDS and ADS revealed the existence of an overall LC bias, except for plosive sequences in ADS, which show a CL bias across counts. Second, speech preference experiments showed a perceptual preference for CL over LC plosive sequences (all recorded by a Japanese speaker) in 13- but not in 7- and 10-month-old Japanese-learning infants (Experiment 1), while revealing the emergence of an LC preference between 7 and 10 months in French-learning infants, using the exact same stimuli. These crosslinguistic behavioral differences, obtained with the same stimuli, thus reflect differences in processing in two populations of infants, which can be linked to differences in the properties of the lexicons of their respective native languages. These findings establish that the emergence of a CL/LC bias is related to exposure to a linguistic input.

Abstract

Humans appear to rely on spatial mappings to represent and describe concepts. The conceptual cuing effect describes the tendency for participants to orient attention to a spatial location following the presentation of an unrelated cue word (e.g., orienting attention upward after reading the word sky). To date, such effects have predominately been explained within the embodied cognition framework, according to which people’s attention is oriented on the basis of prior experience (e.g., sky → up via perceptual simulation). However, this does not provide a compelling explanation for how abstract words have the same ability to orient attention. Why, for example, does dream also orient attention upward? We report on an experiment that investigated the role of language use (specifically, collocation between concept words and spatial words for up and down dimensions) and found that it predicted the cuing effect. The results suggest that language usage patterns may be instrumental in explaining conceptual cuing.

Abstract

Our recent studies suggest that congenitally blind adults have severely impaired thresholds in an auditory spatial bisection task, pointing to the importance of vision in constructing complex auditory spatial maps (Gon etal., 2014). To explore strategies that may improve the auditory spatial sense in visually impaired people, we investigated the impact of tactile feedback on spatial auditory localization in 48 blindfolded sighted subjects. We measured auditory spatial bisection thresholds before and after training, either with tactile feedback, verbal feedback, or no feedback. Audio thresholds were first measured with a spatial bisection task: subjects judged whether the second sound of a three sound sequence was spatially closer to the first or the third sound. The tactile feedback group underwent two audio-tactile feedback sessions of 100 trials, where each auditory trial was followed by the same spatial sequence played on the subject's forearm; auditory spatial bisection thresholds were evaluated after each session. In the verbal feedback condition, the positions of the sounds were verbally reported to the subject after each feedback trial.The no feedback group did the same sequence of trials, with no feedback. Performance improved significantly only after audio-tactile feedback. The results suggest that direct tactile feedback interacts with the auditory spatial localization system, possibly by a process of cross-sensory recalibration. Control tests with the subject rotated suggested that this effect occurs only when the tactile and acoustic sequences are spatially congruent. Our results suggest that the tactile system can be used to recalibrate the auditory sense of space. These results encourage the possibility of designing rehabilitation programs to help blind persons establish a robust auditory sense of space, through training with the tactile modality.

Abstract

The involvement of neural motor and sensory systems in the processing of language has so far mainly been studied in native (L1) speakers. In an fMRI experiment, we investigated whether non-native (L2) semantic representations are rich enough to allow for activation in motor and somatosensory brain areas. German learners of Dutch and a control group of Dutch native speakers made lexical decisions about visually presented Dutch motor and non-motor verbs. Region-of-interest (ROI) and whole-brain analyses indicated that L2 speakers, like L1 speakers, showed significantly increased activation for simple motor compared to non-motor verbs in motor and somatosensory regions. This effect was not restricted to Dutch-German cognate verbs, but was also present for non-cognate verbs. These results indicate that L2 semantic representations are rich enough for motor-related activations to develop in motor and somatosensory areas.

Abstract

In this functional magnetic resonance imaging (fMRI) long-lag priming study, we investigated the processing of Dutch semantically transparent, derived prefix verbs. In such words, the meaning of the word as a whole can be deduced from the meanings of its parts, e.g., wegleggen “put aside.” Many behavioral and some fMRI studies suggest that native (L1) speakers decompose transparent derived words. The brain region usually implicated in morphological decomposition is the left inferior frontal gyrus (LIFG). In non-native (L2) speakers, the processing of transparent derived words has hardly been investigated, especially in fMRI studies, and results are contradictory: some studies find more reliance on holistic (i.e., non-decompositional) processing by L2 speakers; some find no difference between L1 and L2 speakers. In this study, we wanted to find out whether Dutch transparent derived prefix verbs are decomposed or processed holistically by German L2 speakers of Dutch. Half of the derived verbs (e.g., omvallen “fall down”) were preceded by their stem (e.g., vallen “fall”) with a lag of 4–6 words (“primed”); the other half (e.g., inslapen “fall asleep”) were not (“unprimed”). L1 and L2 speakers of Dutch made lexical decisions on these visually presented verbs. Both region of interest analyses and whole-brain analyses showed that there was a significant repetition suppression effect for primed compared to unprimed derived verbs in the LIFG. This was true both for the analyses over L2 speakers only and for the analyses over the two language groups together. The latter did not reveal any interaction with language group (L1 vs. L2) in the LIFG. Thus, L2 speakers show a clear priming effect in the LIFG, an area that has been associated with morphological decomposition. Our findings are consistent with the idea that L2 speakers engage in decomposition of transparent derived verbs rather than processing them holistically

Abstract

The discussion on root infinitives has mainly centered around their supposed modal usage. This article aims at modelling the form-function relation of the root infinitive phenomenon by taking into account the full range of interpretational facets encountered cross-linguistically and interindividually. Following the idea of a subsequent ‘‘cell partitioning’’ in the emergence of form-function correlations, I claim that it is the major fission between [+-finite] which is central to express temporal reference different from the default here&now in tense-oriented languages. In aspectual-oriented languages, a similar opposition is mastered with the marking of early aspectual forms. It is observed that in tense-oriented languages like Dutch and German, the progression of functions associated with the infinitival form proceeds from nonmodal to modal, whereas the reverse progression holds for the Russian infinitive. Based on this crucial observation, a model of acquisition is proposed which allows for a flexible and systematic relationship between morphological forms and their respective interpretational biases dependent on their developmental context. As for early child language, I argue that children entertain only two temporal parameters: one parameter is fixed to the here&now point in time, and a second parameter relates to the time talked about, the topic time; this latter time overlaps the situation time as long as no empirical evidence exists to support the emergence of a proper distinction between tense and aspect.

Abstract

This study examined electrophysiological correlates of sentence comprehension of native-accented and foreign-accented
speech in a second language (L2), for sentences produced in a foreign accent different from that associated with the listeners’
L1. Bilingual speaker-listeners process different accents in their L2 conversations, but the effects on real-time L2 sentence
comprehension are unknown. Dutch–English bilinguals listened to native American-English accented sentences and foreign
(and for them unfamiliarly-accented) Chinese-English accented sentences while EEG was recorded. Behavioral sentence
comprehension was highly accurate for both native-accented and foreign-accented sentences. ERPs showed different patterns
for L2 grammar and semantic processing of native- and foreign-accented speech. For grammar, only native-accented speech
elicited an Nref. For semantics, both native- and foreign-accented speech elicited an N400 effect, but with a delayed onset
across both accent conditions. These findings suggest that the way listeners comprehend native- and foreign-accented
sentences in their L2 depends on their familiarity with the accent.

Abstract

Language in high-functioning autism is characterized by pragmatic and semantic deficits, and people with autism have a reduced tendency to integrate information. Because the left and right inferior frontal (LIF and RIF) regions are implicated with integration of speaker information, world knowledge, and semantic knowledge, we hypothesized that abnormal functioning of the LIF and RIF regions might contribute to pragmatic and semantic language deficits in autism. Brain activation of sixteen 12- to 18-year-old, high-functioning autistic participants was measured with functional magnetic resonance imaging during sentence comprehension and compared with that of twenty-six matched controls. The content of the pragmatic sentence was congruent or incongruent with respect to the speaker characteristics (male/female, child/adult, and upper class/lower class). The semantic- and world-knowledge sentences were congruent or incongruent with respect to semantic expectancies and factual expectancies about the world, respectively. In the semanticknowledge and world-knowledge condition, activation of the LIF region did not differ between groups. In sentences that required integration of speaker information, the autism group showed abnormally reduced activation of the LIF region. The results suggest that people with autism may recruit the LIF region in a different manner in tasks that demand integration of social information.

Abstract

Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic variants contribute substantially to ASD susceptibility, but to date no individual variants have been robustly associated with ASD. With a marked sample-size increase from a unique Danish population resource, we report a genome-wide association meta-analysis of 18,381 individuals with ASD and 27,969 controls that identified five genome-wide-significant loci. Leveraging GWAS results from three phenotypes with significantly overlapping genetic architectures (schizophrenia, major depression, and educational attainment), we identified seven additional loci shared with other traits at equally strict significance levels. Dissecting the polygenic architecture, we found both quantitative and qualitative polygenic heterogeneity across ASD subtypes. These results highlight biological insights, particularly relating to neuronal function and corticogenesis, and establish that GWAS performed at scale will be much more productive in the near term in ASD.

Abstract

The left and right sides of the human brain are specialized for different kinds of information processing, and much of our cognition is lateralized to an extent towards one side or the other. Handedness is a reflection of nervous system lateralization. Roughly ten percent of people are mixed- or left-handed, and they show an elevated rate of reductions or reversals of some cerebral functional asymmetries compared to right-handers. Brain anatomical correlates of left-handedness have also been suggested. However, the relationships of left-handedness to brain structure and function remain far from clear. We carried out a comprehensive analysis of cortical surface area differences between 106 left-handed subjects and 1960 right-handed subjects, measured using an automated method of regional parcellation (FreeSurfer, Destrieux atlas). This is the largest study sample that has so far been used in relation to this issue. No individual cortical region showed an association with left-handedness that survived statistical correction for multiple testing, although there was a nominally significant association with the surface area of a previously implicated region: the left precentral sulcus. Identifying brain structural correlates of handedness may prove useful for genetic studies of cerebral asymmetries, as well as providing new avenues for the study of relations between handedness, cerebral lateralization and cognition.

Abstract

Functional and anatomical asymmetries are prevalent features of the human brain, linked to gender, handedness, and cognition. However, little is known about the neurodevelopmental processes involved. In zebrafish, asymmetries arise in the diencephalon before extending within the central nervous system. We aimed to identify genes involved in the development of subtle, left-right volumetric asymmetries of human subcortical structures using large datasets. We first tested the feasibility of measuring left-right volume differences in such large-scale samples, as assessed by two automated methods of subcortical segmentation (FSL|FIRST and FreeSurfer), using data from 235 subjects who had undergone MRI twice. We tested the agreement between the first and second scan, and the agreement between the segmentation methods, for measures of bilateral volumes of six subcortical structures and the hippocampus, and their volumetric asymmetries. We also tested whether there were biases introduced by left-right differences in the regional atlases used by the methods, by analyzing left-right flipped images. While many bilateral volumes were measured well (scan-rescan r = 0.6-0.8), most asymmetries, with the exception of the caudate nucleus, showed lower repeatabilites. We meta-analyzed genome-wide association scan results for caudate nucleus asymmetry in a combined sample of 3,028 adult subjects but did not detect associations at genome-wide significance (P < 5 × 10-8). There was no enrichment of genetic association in genes involved in left-right patterning of the viscera. Our results provide important information for researchers who are currently aiming to carry out large-scale genome-wide studies of subcortical and hippocampal volumes, and their asymmetries

Abstract

A large body of evidence has shown that visual context information can rapidly modulate language comprehension for concrete sentences and when it is mediated by a referential or a lexical-semantic link. What has not yet been examined is whether visual context can also modulate comprehension of abstract sentences incrementally when it is neither referenced by, nor lexically associated with, the sentence. Three eye-tracking reading experiments examined the effects of spatial distance between words (Experiment 1) and objects (Experiment 2 and 3) on participants’ reading times for sentences that convey similarity or difference between two abstract nouns (e.g., ‘Peace and war are certainly different...’). Before reading the sentence, participants inspected a visual context with two playing cards that moved either far apart or close together. In Experiment 1, the cards turned and showed the first two nouns of the sentence (e.g., ‘peace’, ‘war’). In Experiments 2 and 3, they turned but remained blank. Participants’ reading times at the adjective (Experiment 1: first-pass reading time; Experiment 2: total times) and at the second noun phrase (Experiment 3: first-pass times) were faster for sentences that expressed similarity when the preceding words/objects were close together (vs. far apart) and for sentences that expressed dissimilarity when the preceding words/objects were far apart (vs. close together). Thus, spatial distance between words or entirely unrelated objects can rapidly and incrementally modulate the semantic interpretation of abstract sentences.

Abstract

The central topic of this study is to investigate three- and four-place predicate in Yaqui, which are characterized by having multiple object arguments. As with other Southern Uto-Aztecan languages, it has been said that Yaqui follows the Primary/Secondary Object pattern (Dryer 1986). Actually, Yaqui presents three patterns: verbs like nenka ‘sell’ follow the direct–indirect object pattern, verbs like miika ‘give’ follow the primary object pattern, and verbs like chijakta ‘sprinkle’ follow the locative alternation pattern; the primary object pattern is the exclusive one found with derived verbs. This paper shows that the contrast between direct object and primary object languages is not absolute but rather one of degree, and hence two “object” selection principles are needed to explain this mixed system. The two principles are not limited to Yaqui but are found in other languages as well, including English.

Abstract

Partisan gerrymandering poses a threat to democracy. Moreover, the complexity of the districting task may exceed human capacities. One potential solution is using computational models to automate the districting process by optimizing objective and open criteria, such as how spatially compact districts are. We formulated one such model that minimised pairwise distance between voters within a district. Using US Census Bureau data, we confirmed our prediction that the difference in compactness between the computed and actual districts would be greatest for states that are large and, therefore, difficult for humans to properly district given their limited capacities. The computed solutions highlighted differences in how humans and machines solve this task with machine solutions more fully optimised and displaying emergent properties not evident in human solutions. These results suggest a division of labour in which humans debate and formulate districting criteria whereas machines optimise the criteria to draw the district boundaries. We discuss how criteria can be expanded beyond notions of compactness to include other factors, such as respecting municipal boundaries, historic communities, and relevant legislation.

Abstract

Despite the literature on the role of input in adult second-language (L2) acquisition and on artificial and statistical language learning, surprisingly little is known about how adults break into a new language in the wild. This article reports on a series of behavioral and neuroimaging studies that examine what linguistic information adults can extract from naturalistic but controlled audiovisual input in an unknown and typologically distant L2 after minimal exposure (7–14 min) without instruction or training. We tested the stepwise development of segmental, phonotactic, and lexical knowledge in Dutch adults after minimal exposure to Mandarin Chinese and the role of item frequency, speech-associated gestures, and word length at the earliest stages of learning. In an exploratory neural connectivity study we further examined the neural correlates of word recognition in a new language, identifying brain regions whose connectivity was related to performance both before and after learning. While emphasizing the complexity of the learning task, the results suggest that the adult learning mechanism is more powerful than is normally assumed when faced with small amounts of complex, continuous audiovisual language input.

Abstract

Gestures, the symbolic movements speakers perform while they speak, form a closely inter-connected system with speech where gestures serve both addressee-directed (‘communicative’) and speaker-directed (’internal’) functions. This paper aims (1) to show that a combined analysis of gesture and speech offers new ways to address theoretical issues in SLA and bilingualism studies, probing SLA and bilingualism as product and process; and (2) to outline some methodological concerns and desiderata to facilitate the inclusion of gesture in SLA and bilingualism research.

Abstract

Placement verbs describe every-day events like putting a toy in a box. Dutch uses two semi-obligatory caused posture verbs (leggen ‘lay’ and zetten ‘set/stand’) to distinguish between events based on whether the located object is placed horizontally or vertically. Although prevalent in the input, these verbs cause Dutch children difficulties even at age five (Narasimhan & Gullberg, submitted). Children overextend leggen to all placement events and underextend use of zetten. This study examines what gestures can reveal about Dutch three- and five-year-olds’ semantic representations of such verbs. The results show that children gesture differently from adults in this domain. Three-year-olds express only the path of the caused motion, whereas five-year-olds, like adults, also incorporate the located object. Crucially, gesture patterns are tied to verb use: those children who over-use leggen 'lay' for all placement events only gesture about path. Conversely, children who use the two verbs differentially for horizontal and vertical placement also incorporate objects in gestures like adults. We argue that children's gestures reflect their current knowledge of verb semantics, and indicate a developmental transition from a system with a single semantic component – (caused) movement – to an (adult-like) focus on two semantic components – (caused) movement-and-object

Abstract

One of the features that distinguishes modern humans from our extinct relatives
and ancestors is a globular shape of the braincase [1-4]. As the endocranium
closely mirrors the outer shape of the brain, these differences might reflect
altered neural architecture [4,5]. However, in the absence of fossil brain tissue the
underlying neuroanatomical changes as well as their genetic bases remain
elusive. To better understand the biological foundations of modern human
endocranial shape, we turn to our closest extinct relatives, the Neandertals.
Interbreeding between modern humans and Neandertals has resulted in
introgressed fragments of Neandertal DNA in the genomes of present-day non-
Africans [6,7]. Based on shape analyses of fossil skull endocasts, we derive a
measure of endocranial globularity from structural magnetic resonance imaging
(MRI) scans of thousands of modern humans, and study the effects of
introgressed fragments of Neandertal DNA on this phenotype. We find that
Neandertal alleles on chromosomes 1 and 18 are associated with reduced
endocranial globularity. These alleles influence expression of two nearby genes,
UBR4 and PHLPP1, which are involved in neurogenesis and myelination,
respectively. Our findings show how integration of fossil skull data with archaic
genomics and neuroimaging can suggest developmental mechanisms that may
contribute to the unique modern human endocranial shape.

Abstract

Although the sentences that we hear or read have meaning, this does not necessarily mean that they are also true. Relatively little is known about the critical brain structures for, and the relative time course of, establishing the meaning and truth of linguistic expressions. We present electroencephalogram data that show the rapid parallel integration of both semantic and world
knowledge during the interpretation of a sentence. Data from functional magnetic resonance imaging revealed that the left inferior prefrontal cortex is involved in the integration of both meaning and world knowledge. Finally, oscillatory brain responses indicate that the brain keeps a record of what makes a sentence hard to interpret.

Abstract

Current views on the neurobiological underpinnings of language are discussed that deviate in a number of ways from the classical Wernicke–Lichtheim–Geschwind model. More areas than Broca's and Wernicke's region are involved in language. Moreover, a division along the axis of language production and language comprehension does not seem to be warranted. Instead, for central aspects of language processing neural infrastructure is shared between production and comprehension. Three different accounts of the role of Broca's area in language are discussed. Arguments are presented in favor of a dynamic network view, in which the functionality of a region is co-determined by the network of regions in which it is embedded at particular moments in time. Finally, core regions of language processing need to interact with other networks (e.g. the attentional networks and the ToM network) to establish full functionality of language and communication.

Abstract

In this contribution, the following four questions are discussed: (i) where is meaning?; (ii) what is meaning?; (iii) what is the meaning of mechanism?; (iv) what are the mechanisms of meaning? I will argue that meanings are in the head. Meanings have multiple facets, but minimally one needs to make a distinction between single word meanings (lexical meaning) and the meanings of multi-word utterances. The latter ones cannot be retrieved from memory, but need to be constructed on the fly. A mechanistic account of the meaning-making mind requires an analysis at both a functional and a neural level, the reason being that these levels are causally interdependent. I will show that an analysis exclusively focusing on patterns of brain activation lacks explanatory power. Finally, I shall present an initial sketch of how the dynamic interaction between temporo-parietal areas and inferior frontal cortex might instantiate the interpretation of linguistic utterances in the context of a multimodal setting and ongoing discourse information.

Abstract

In this Review, I propose a multiple-network view for the neurobiological basis of distinctly human language skills. A much more complex picture of interacting brain areas emerges than in the classical neurobiological model of language. This is because using language is more than single-word processing, and much goes on beyond the information given in the acoustic or orthographic tokens that enter primary sensory cortices. This requires the involvement of multiple networks with functionally nonoverlapping contributions

Abstract

A hallmark of human language is that we combine lexical building blocks retrieved from memory in endless new ways. This combinatorial aspect of language is referred to as unification. Here we focus on the neurobiological infrastructure for syntactic and semantic unification. Unification is characterized by a high-speed temporal profile including both prediction and integration of retrieved lexical elements. A meta-analysis of numerous neuroimaging studies reveals a clear dorsal/ventral gradient in both left inferior frontal cortex and left posterior temporal cortex, with dorsal foci for syntactic processing and ventral foci for semantic processing. In addition to core areas for unification, further networks need to be recruited to realize language-driven communication to its full extent. One example is the theory of mind network, which allows listeners and readers to infer the intended message (speaker meaning) from the coded meaning of the linguistic utterance. This indicates that sensorimotor simulation cannot handle all of language processing.

Abstract

This paper follows the changing fortunes of Chomsky’s search for a pedigree in the history of Western thought during the late 1960s. Having achieved a unique position of supremacy in the theory of syntax and having exploited that position far beyond the narrow circles of professional syntacticians, he felt the need to shore up his theory with the authority of history. It is shown that this attempt, resulting mainly in his Cartesian Linguistics of 1966, was widely, and rightly, judged to be a radical failure, even though it led to a sudden revival of interest in the history of linguistics. Ironically, the very upswing in historical studies caused by Cartesian Linguistics ended up showing that the real pedigree belongs to Generative Semantics, developed by the same ‘angry young men’ Chomsky was so bent on destroying.

Abstract

In the recent past the work on large-scale linguistic distributions across the globe has intensified considerably. Work on macro-areal relationships in Africa (Güldemann, 2010) suggests that the shape of convergence areas may be determined by climatic factors and geophysical features such as mountains, water bodies, coastlines, etc. Worldwide data is now available for geophysical features as well as linguistic features, including numeral systems and basic constituent order. We explore the possibility that the shape of areal aggregations of individual features in these two linguistic domains correlates with Köppen-Geiger climate zones. Furthermore, we test the hypothesis that the shape of such areal feature aggregations is determined by the contour of adjacent geophysical features like mountain ranges or coastlines. In these first basic tests, we do not find clear evidence that either Köppen-Geiger climate zones or the contours of geophysical features are major predictors for the linguistic data at hand

Abstract

While the notion of the ‘area’ or ‘Sprachbund’ has a long history in linguistics, with geographically-defined regions frequently cited as a useful means to explain typological distributions, the problem of delimiting areas has not been well addressed. Lists of general-purpose, largely independent ‘macro-areas’ (typically continent size) have been proposed as a step to rule out contact as an explanation for various large-scale linguistic phenomena. This squib points out some problems in some of the currently widely-used predetermined areas, those found in the World Atlas of Language Structures (Haspelmath et al., 2005). Instead, we propose a principled division of the world’s landmasses into six macro-areas that arguably have better geographical independence properties

Abstract

One attempt at explaining why some language families are large (while others are small) is the hypothesis that the families that are now large became large because their ancestral speakers had a technological advantage, most often agriculture. Variants of this idea are referred to as the Language Farming Dispersal Hypothesis. Previously, detailed language family studies have uncovered various supporting examples and counterexamples to this idea. In the present paper I weigh the evidence from ALL attested language families. For each family, I use the number of member languages as a measure of cardinal size, member language coordinates to measure geospatial size and ethnographic evidence to assess subsistence status. This data shows that, although agricultural families tend to be larger in cardinal size, their size is hardly due to the simple presence of farming. If farming were responsible for language family expansions, we would expect a greater east-west geospatial spread of large families than is actually observed. The data, however, is compatible with weaker versions of the farming dispersal hypothesis as well with models where large families acquire farming because of their size, rather than the other way around.

Abstract

This chapter aims to provide an updated list of all Bantu languages known at present and to provide individual pointers to further information on the inventory. The area division has some correlation with what are perceived genealogical relations between Bantu languages, but they are not defined as such and do not change whenever there is an update in our understanding of genealogical relations. Given the popularity of Guthrie codes in Bantu linguistics, our listing also features a complete mapping to Guthrie codes. The language inventory listed excludes sign languages used in the Bantu area, speech registers, pidgins, drummed/whistled languages and urban youth languages. Pointers to such languages in the Bantu area are included in the continent-wide overview in Hammarstrom. The most important alternative names, subvarieties and spelling variants are given for each language, though such lists are necessarily incomplete and reflect some degree of arbitrary selection.

Abstract

This paper aims to list all known language families that are not yet extinct and all of whose member languages are very poorly documented, i.e., less than a sketch grammar’s worth of data has been collected. It explains what constitutes a valid family, what amount and kinds of documentary data are sufficient, when a language is considered extinct, and more. It is hoped that the survey will be useful in setting priorities for documentation fieldwork, in particular for those documentation efforts whose underlying goal is to understand linguistic diversity.

Abstract

Whitesands is an Oceanic language of the southern Vanuatu subgroup. Like the related languages of southern Vanuatu, Whitesands has developed a clause-linkage system which monitors referent continuity on new clauses – typically contrasting with the previous clause. In this chapter I address how the construction interacts with topic continuity in discourse. I outline the morphosyntactic form of this anaphoric co-reference device. From a functionalist perspective, I show how the system is used in natural discourse and discuss its restrictions with respect to relative and complement clauses. I conclude with a discussion on its interactions with theoretical notions of information structure – in particular the nature of presupposed versus asserted clauses, information back- and foregrounding and how these affect the use of the switch-reference system

Abstract

Speech production studies have shown that phonological unit initially used to fill the metrical frame during phonological encoding is language specific, that is, a phoneme for English and Dutch, an atonal syllable for Mandarin Chinese, and a mora for Japanese. However, only a few studies chronometrically investigated speech production in Korean, and they obtained mixed results. Korean is particularly interesting as there might be both phonemic and syllabic influences during phonological encoding. The purpose of this study is to further examine the initial phonological preparation unit in Korean, employing a masked priming task (Experiment 1) and a phonological Stroop task (Experiment 2). The results showed that significant onset (and onset-plus, that is, consonant-vowel [CV]) effects were found in both experiments, but there was no compelling evidence for a prominent role for the syllable. When the prime words were presented in three different forms related to the targets, namely, without any change, with re-syllabified codas, and with nasalised codas, there were no significant differences in facilitation among the three forms. Alternatively, it is also possible that participants may not have had sufficient time to process the primes up to the point that re-syllabification or nasalisation could have been carried out. In addition, the results of a Stroop task demonstrated that the onset phoneme effect was not driven by any orthographic influence. These findings suggest that the onset segment and not the syllable is the initial (or proximate) phonological unit used in the segment-to-frame encoding process during speech planning in Korean.

Abstract

Slovak (sometimes also called Slovakian) is an Indo-European language belonging to the West-Slavic branch, and is most closely related to Czech. Slovak is spoken as a native language by 4.6 million speakers in Slovakia (that is by roughly 85% of the population), and by over two million Slovaks living abroad, most of them in the USA, the Czech Republic, Hungary, Canada and Great Britain (Office for Slovaks Living Abroad 2009).

Abstract

The possible-word constraint (PWC; Norris, McQueen, Cutler, & Butterfield, 1997) has been proposed as a language-universal segmentation principle: Lexical candidates are disfavoured if the resulting segmentation of continuous speech leads to vowelless residues in the input—for example, single consonants. Three word-spotting experiments investigated segmentation in Slovak, a language with single-consonant words and fixed stress. In Experiment 1, Slovak listeners detected real words such as ruka “hand” embedded in prepositional-consonant contexts (e.g., /gruka/) faster than those in nonprepositional-consonant contexts (e.g., /truka/) and slowest in syllable contexts (e.g., /dugruka/). The second experiment controlled for effects of stress. Responses were still fastest in prepositional-consonant contexts, but were now slowest in nonprepositional-consonant contexts. In Experiment 3, the lexical and syllabic status of the contexts was manipulated. Responses were again slowest in nonprepositional-consonant contexts but equally fast in prepositional-consonant, prepositional-vowel, and nonprepositional-vowel contexts. These results suggest that Slovak listeners use fixed stress and the PWC to segment speech, but that single consonants that can be words have a special status in Slovak segmentation. Knowledge about what constitutes a phonologically acceptable word in a given language therefore determines whether vowelless stretches of speech are or are not treated as acceptable parts of the lexical parse.

Abstract

Feedback has been shown to be effective in shifting attention across perceptual cues to a phonological contrast in speech perception (Francis, Baldwin & Nusbaum, 2000). However, the learning mechanisms behind this process remain obscure. We compare the predictions of supervised error-driven learning (Rescorla & Wagner, 1972) and reinforcement learning (Sutton & Barto, 1998) using computational simulations. Supervised learning predicts downweighting of an informative cue when the learner receives evidence that it is no longer informative. In contrast, reinforcement learning suggests that a reduction in cue weight requires positive evidence for the informativeness of an alternative cue. Experimental evidence supports the latter prediction, implicating reinforcement learning as the mechanism behind the effect of feedback on cue weighting in speech perception. Native English listeners were exposed to either bimodal or unimodal VOT distributions spanning the unaspirated/aspirated boundary (bear/pear). VOT is the primary cue to initial stop voicing in English. However, lexical feedback in training indicated that VOT was no longer predictive of voicing. Reduction in the weight of VOT was observed only when participants could use an alternative cue, F0, to predict voicing. Frequency distributions had no effect on learning. Overall, the results suggest that attention shifting in learning the phonetic cues to phonological categories is accomplished using simple reinforcement learning principles that also guide the choice of actions in other domains.

Abstract

Previous studies have linked the low expression variant of a variable number of tandem repeat polymorphism in the monoamine oxidase A gene (MAOA‐L) to the risk for impulsivity and aggression, brain developmental abnormalities, altered cortico‐limbic circuit function, and an exaggerated neural serotonergic tone. However, the neurobiological effects of this variant on human brain network architecture are incompletely understood. We studied healthy individuals and used multimodal neuroimaging (sample size range: 219–284 across modalities) and network‐based statistics (NBS) to probe the specificity of MAOA‐L‐related connectomic alterations to cortical‐limbic circuits and the emotion processing domain. We assessed the spatial distribution of affected links across several neuroimaging tasks and data modalities to identify potential alterations in network architecture. Our results revealed a distributed network of node links with a significantly increased connectivity in MAOA‐L carriers compared to the carriers of the high expression (H) variant. The hyperconnectivity phenotype primarily consisted of between‐lobe (“anisocoupled”) network links and showed a pronounced involvement of frontal‐temporal connections. Hyperconnectivity was observed across functional magnetic resonance imaging (fMRI) of implicit emotion processing (pFWE = .037), resting‐state fMRI (pFWE = .022), and diffusion tensor imaging (pFWE = .044) data, while no effects were seen in fMRI data of another cognitive domain, that is, spatial working memory (pFWE = .540). These observations are in line with prior research on the MAOA‐L variant and complement these existing data by novel insights into the specificity and spatial distribution of the neurogenetic effects. Our work highlights the value of multimodal network connectomic approaches for imaging genetics.

Abstract

All primates learn things from conspecifics socially, but it is not clear whether they conform to the behavior of these conspecifics—if conformity is defined as overriding individually acquired behavioral tendencies in order to copy peers’ behavior. In the current study, chimpanzees, orangutans, and 2-year-old human children individually acquired a problem-solving strategy. They then watched several conspecific peers demonstrate an alternative strategy. The children switched to this new, socially demonstrated strategy in roughly half of all instances, whereas the other two great-ape species almost never adjusted their behavior to the majority’s. In a follow-up study, children switched much more when the peer demonstrators were still present than when they were absent, which suggests that their conformity arose at least in part from social motivations. These results demonstrate an important difference between the social learning of humans and great apes, a difference that might help to account for differences in human and nonhuman cultures

Abstract

Contemporary comparative cognition has a large repertoire of animal models and methods, with concurrent theoretical advances that are providing initial answers to crucial questions about human cognition. What cognitive traits are uniquely human? What are the species-typical inherited predispositions of the human mind? What is the human mind capable of without certain types of specific experiences with the surrounding environment? Here, we review recent findings from the domains of space, time and number cognition. These findings are produced using different comparative methodologies relying on different animal species, namely birds and non-human great apes. The study of these species not only reveals the range of cognitive abilities across vertebrates, but also increases our understanding of human cognition in crucial ways.

Abstract

Cranial growth and development is a complex process which affects the closely related traits of head circumference (HC) and intracranial volume (ICV). The underlying genetic influences affecting these traits during the transition from childhood to adulthood are little understood, but might include both age-specific genetic influences and low-frequency genetic variation. To understand these influences, we model the developmental genetic architecture of HC, showing this is genetically stable and correlated with genetic determinants of ICV. Investigating up to 46,000 children and adults of European descent, we identify association with final HC and/or final ICV+HC at 9 novel common and low-frequency loci, illustrating that genetic variation from a wide allele frequency spectrum contributes to cranial growth. The largest effects are reported for low-frequency variants within TP53, with 0.5 cm wider heads in increaser-allele carriers versus non-carriers during mid-childhood, suggesting a previously unrecognized role of TP53 transcripts in human cranial development.

Abstract

OBJECTIVE: Plasma adiponectin is strongly associated with various components of metabolic syndrome, type 2 diabetes and cardiovascular outcomes. Concentrations are highly heritable and differ between men and women. We therefore aimed to investigate the genetics of plasma adiponectin in men and women. METHODS: We combined genome-wide association scans of three population-based studies including 4659 persons. For the replication stage in 13795 subjects, we selected the 20 top signals of the combined analysis, as well as the 10 top signals with p-values less than 1.0 x 10(-4) for each the men- and the women-specific analyses. We further selected 73 SNPs that were consistently associated with metabolic syndrome parameters in previous genome-wide association studies to check for their association with plasma adiponectin. RESULTS: The ADIPOQ locus showed genome-wide significant p-values in the combined (p=4.3 x 10(-24)) as well as in both women- and men-specific analyses (p=8.7 x 10(-17) and p=2.5 x 10(-11), respectively). None of the other 39 top signal SNPs showed evidence for association in the replication analysis. None of 73 SNPs from metabolic syndrome loci exhibited association with plasma adiponectin (p>0.01). CONCLUSIONS: We demonstrated the ADIPOQ gene as the only major gene for plasma adiponectin, which explains 6.7% of the phenotypic variance. We further found that neither this gene nor any of the metabolic syndrome loci explained the sex differences observed for plasma adiponectin. Larger studies are needed to identify more moderate genetic determinants of plasma adiponectin.

Abstract

This paper provides an overview of the question–response system of Danish, based on a collection of 350 questions (and responses) collected from video recordings of naturally occurring face-to-face interactions between native speakers of Danish. The paper identifies the lexico-grammatical options for formulating questions, the range of social actions that can be implemented through questions and the relationship between questions and responses. It further describes features where Danish questions differ from a range of other languages in terms of, for instance, distribution and the relationship between question format and social action. For instance, Danish has a high frequency of interrogatively formatted questions and questions that are negatively formulated, when compared to languages that have the same grammatical options. In terms of action, Danish shows a higher number of questions that are used for making suggestions, offers and requests and does not use repetition as a way of answering a question as often as other languages.

Abstract

Objective: This study investigates the relationship of ‘online commentary’(contemporaneous physician comments about physical examination [PE] findings) with (i) parent questioning of the treatment recommendation and (ii) inappropriate antibiotic prescribing. Methods: A nested cross-sectional study of 522 encounters motivated by upper respiratory symptoms in 27 California pediatric practices (38 pediatricians). Physicians completed a post-visit survey regarding physical examination findings, diagnosis, treatment, and whether they perceived the parent as expecting an antibiotic. Taped encounters were coded for ‘problem’ online commentary (PE findings discussed as significant or clearly abnormal) and ‘no problem’ online commentary (PE findings discussed reassuringly as normal or insignificant). Results: Online commentary during the PE occurred in 73% of visits with viral diagnoses (n = 261). Compared to similar cases with ‘no problem’ online commentary, ‘problem’ comments were associated with a 13% greater probability of parents uestioning a non-antibiotic treatment plan (95% CI 0-26%, p = .05,) and a 27% (95% CI: 2-52%, p < .05) greater probability of an inappropriate antibiotic prescription. Conclusion: With viral illnesses, problematic online comments are associated with more pediatrician-parent conflict over non-antibiotic treatment recommendations. This may increase inappropriate antibiotic prescribing. Practice implications: In viral cases, physicians should consider avoiding the use of problematic online commentary.

Abstract

Bilingual listeners comprehend speech-in-noise better in their native than non-native language. This native-language benefit is thought to arise from greater use of top-down linguistic information to assist degraded speech comprehension. Using functional magnetic resonance imaging, we recently showed that left angular gyrus activation is modulated when semantic context is used to assist native language speech-in-noise comprehension (Golestani, Hervais-Adelman, Obleser, & Scott, 2013). Here, we extend the previous work, by reanalyzing the previous data alongside the results obtained in the non-native language of the same late bilingual participants. We found a behavioral benefit of semantic context in processing speech-in-noise in the native language only, and the imaging results also revealed a native language context effect in the left angular gyrus. We also find a complementary role of lower-level auditory regions during stimulus-driven processing. Our findings help to elucidate the neural basis of the established native language behavioral benefit of speech-in-noise processing. (C) 2014 Elsevier Inc. All rights reserved.

Abstract

Learning to read is associated with the appearance of an orthographically sensitive brain region known as the visual word form area. It has been claimed that development of this area proceeds by impinging upon territory otherwise available for the processing of culturally relevant stimuli such as faces and houses. In a large-scale functional magnetic resonance imaging study of a group of individuals of varying degrees of literacy (from completely illiterate to highly literate), we examined cortical responses to orthographic and nonorthographic visual stimuli. We found that literacy enhances responses to other visual input in early visual areas and enhances representational similarity between text and faces, without reducing the extent of response to nonorthographic input. Thus, acquisition of literacy in childhood recycles existing object representation mechanisms but without destructive competition.

Abstract

Superiority in visual search for individuals diagnosed with autism spectrum disorder (ASD) is a well-reported finding. We administered two visual search tasks to individuals with ASD and matched controls. One showed no difference between the groups, and one did show the expected superior performance for individuals with ASD. These results offer an explanation, formulated in terms of load theory. We suggest that there is a limit to the superiority in visual search for individuals with ASD, related to the perceptual load of the stimuli. When perceptual load becomes so high that no additional task-(ir)relevant information can be processed, performance will be based on single stimulus identification, in which no differences between individuals with ASD and controls have been demonstrated