Publications

Abstract

This book argues that the complex, anthropocentric, and often culture-specific meanings of words have been shaped directly by their history of 'utility' for communication in social life. N. J. Enfield draws on semantic and pragmatic case studies from his extensive fieldwork in Laos to investigate a range of semantic fields including emotion terms, culinary terms, landscape terminology, and honorific pronouns, among many others. These studies form the building blocks of a conceptual framework for understanding meaning in language. The book argues that the goals and relevancies of human communication are what bridge the gap between the private representation of language in the mind and its public processes of usage, acquisition, and conventionalization in society. Professor Enfield argues that in order to understand this process, we first need to understand the ways in which linguistic meaning is layered, multiple, anthropocentric, cultural, distributed, and above all, useful. This wide-ranging account brings together several key strands of research across disciplines including semantics, pragmatics, cognitive linguistics, and sociology of language, and provides a rich account of what linguistic meaning is like and why.

Abstract

Over the decades, high-intensity language learners scattered over the globe referred to as “hyperpolyglots” have undertaken a natural experiment into the limits of learning and acquiring proficiencies in multiple languages. This chapter details several ways in which hyperpolyglots are relevant to research on aptitude. First, historical hyperpolyglots Cardinal Giuseppe Mezzofanti, Emil Krebs, Elihu Burritt, and Lomb Kató are described in terms of how they viewed their own exceptional outcomes. Next, I draw on results from an online survey with 390 individuals to explore how contemporary hyperpolyglots consider the explanatory value of aptitude. Third, the challenges involved in studying the genetic basis of hyperpolyglottism (and by extension of language aptitude) are discussed. This mosaic of data is meant to inform the direction of future aptitude research that takes hyperpolyglots, one type of exceptional language learner and user, into account.

Abstract

In an auditory lexical decision experiment, 5,541 spoken content words and pseudo-words were presented to 20 native speakers of Dutch. The words vary in phonological makeup and in number of syllables and stress pattern, and are further representative of the native Dutch vocabulary in that most are morphologically complex, comprising two stems or one stem plus derivational and inflectional suffixes, with inflections representing both regular and irregular paradigms; the pseudo-words were matched in these respects to the real words. The BALDEY data file includes response times and accuracy rates, with for each item morphological information plus phonological and acoustic information derived from automatic phonemic segmentation of the stimuli. Two initial analyses illustrate how this data set can be used. First, we discuss several measures of the point at which a word has no further neighbors, and compare the degree to which each measure predicts our lexical decision response outcomes. Second, we investigate how well four different measures of frequency of occurrence (from written corpora, spoken corpora, subtitles and frequency ratings by 70 participants) predict the same outcomes. These analyses motivate general conclusions about the auditory lexical decision task. The (publicly available) BALDEY database lends itself to many further analyses.

Abstract

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

Abstract

This article presents two studies investigating how the situation in which speech is uttered affects the frequency with which words are reduced. Study 1 is based on the Spoken Dutch Corpus, which consists of 15 components, nearly all representing a different speech situation. This study shows that the components differ in how often ten semantically weak words are highly reduced. The differences are especially large between the components with scripted and unscripted speech. Within the component group of unscripted speech, the formality of the situation shows an effect. Study 2 investigated segment reduction in a shadowing experiment in which participants repeated Dutch carefully and casually articulated sentences. Prefixal schwa and suffixal /t/ were absent in participants' responses to both sentences types as often as in formal interviews. If a segment was absent, this appeared to be mostly due to extreme co-articulation, unlike in speech produced in less formal situations. Speakers thus adapted more to the formal situation of the experiment than to the stimuli to be shadowed. We conclude that speech situation affects the occurrence of reduced word pronunciation variants, which should be accounted for by psycholinguistic models of speech production and comprehension

Abstract

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

Abstract

The larynx is the essential articulatory mechanism that primes the vocal tract. Far from being only a glottal source of voicing, the complex laryngeal mechanism entrains the ontogenetic acquisition of speech and, through coarticulatory coupling, guides the production of oral sounds in the infant vocal tract. As such, it is not possible to speculate as to the origins of the speaking modality in humans without considering the fundamental role played by the laryngeal articulatory mechanism. The Laryngeal Articulator Model, which divides the vocal tract into a laryngeal component and an oral component, serves as a basis for describing early infant speech and for positing how speech sounds evolving in various hominids may be related phonetically. To this end, we offer some suggestions for how the evolution and development of vocal tract anatomy fit with our infant speech acquisition data and discuss the implications this has for explaining phonetic learning and for interpreting the biological evolution of the human vocal tract in relation to speech and speech acquisition.

Abstract

Mutations affecting the transcription factor FOXP2 cause a rare form of severe speech and language disorder. Although it is clear that sufficient FOXP2 expression is crucial for normal brain development, little is known about how this transcription factor is regulated. To investigate post-translational mechanisms for FOXP2 regulation, we searched for protein interaction partners of FOXP2, and identified members of the PIAS family as novel FOXP2 interactors. PIAS proteins mediate post-translational modification of a range of target proteins with small ubiquitin-like modifiers (SUMOs). We found that FOXP2 can be modified with all three human SUMO proteins and that PIAS1 promotes this process. An aetiological FOXP2 mutation found in a family with speech and language disorder markedly reduced FOXP2 SUMOylation. We demonstrate that FOXP2 is SUMOylated at a single major site, which is conserved in all FOXP2 vertebrate orthologues and in the paralogues FOXP1 and FOXP4. Abolishing this site did not lead to detectable changes in FOXP2 subcellular localization, stability, dimerization or transcriptional repression in cellular assays, but the conservation of this site suggests a potential role for SUMOylation in regulating FOXP2 activity in vivo.

Abstract

Childhood adversity (CA) has been associated with long-term structural brain alterations and an increased risk for psychiatric disorders. Evidence is emerging that subtypes of CA, varying in the dimensions of threat and deprivation, lead to distinct neural and behavioral outcomes. However, these specific associations have yet to be established without potential confounders such as psychopathology. Moreover, differences in neural development and psychopathology necessitate the exploration of sexual dimorphism. Young healthy adult subjects were selected based on history of CA from a large database to assess gray matter (GM) differences associated with specific subtypes of adversity. We compared voxel-based morphometry data of subjects reporting specific childhood exposure to abuse (n = 127) or deprivation (n = 126) and a similar sized group of controls (n = 129) without reported CA. Subjects were matched on age, gender, and educational level. Differences between CA subtypes were found in the fusiform gyrus and middle occipital gyms, where subjects with a history of deprivation showed reduced GM compared with subjects with a history of abuse. An interaction between sex and CA subtype was found. Women showed less GM in the visual posterior precuneal region after both subtypes of CA than controls. Men had less GM in the postcentral gyms after childhood deprivation compared with abuse. Our results suggest that even in a healthy population, CA subtypes are related to specific alterations in brain structure, which are modulated by sex. These findings may help understand neurodevelopmental consequences related to CA

Abstract

We summarize a number of findings in laryngology demonstrating that perturbations of phonation, including increased jitter and shimmer, are associated with desiccated ambient air. We predict that, given the relative imprecision of vocal fold vibration in desiccated versus humid contexts, arid and cold ecologies should be less amenable, when contrasted to warm and humid ecologies, to the development of languages with phonemic tone, especially complex tone. This prediction is supported by data from two large independently coded databases representing 3,700+ languages. Languages with complex tonality have generally not developed in very cold or otherwise desiccated climates, in accordance with the physiologically based predictions. The predicted global geographic–linguistic association is shown to operate within continents, within major language families, and across language isolates. Our results offer evidence that human sound systems are influenced by environmental factors.

Abstract

We make the case that, contra standard assumption in linguistic theory, the sound systems of human languages are adapted to their environment. While not conclusive, this plausible case rests on several points discussed in this work: First, human behavior is generally adaptive and the assumption that this characteristic does not extend to linguistic structure is empirically unsubstantiated. Second, animal communication systems are well known to be adaptive within species across a variety of phyla and taxa. Third, research in laryngology demonstrates clearly that ambient desiccation impacts the performance of the human vocal cords. The latter point motivates a clear, testable hypothesis with respect to the synchronic global distribution of language types. Fourth, this hypothesis is supported in our own previous work, and here we discuss new approaches being developed to further explore the hypothesis. We conclude by suggesting that the time has come to more substantively examine the possibility that linguistic sound systems are adapted to their physical ecology

Abstract

We begin by thanking the respondents for their thoughtful comments and insightful leads. The overall impression we are left with by this exchange is one of progress, even if no consensus remains about the particular hypothesis we raise. To date, there has been a failure to seriously engage with the possibility that humans might adapt their communication to ecological factors. In these exchanges, we see signs of serious engagement with that possibility. Most respondents expressed agreement with the notion that our central premise—that language is ecologically adaptive—requires further exploration and may in fact be operative. We are pleased to see this shift in discourse, and to witness a heightening appreciation of possible ecological constraints on language evolution. It is that shift in discourse that represents progress in our view. Our hope is that future work will continue to explore these issues, paying careful attention to the fact that the human larynx is clearly sensitive to characteristics of ambient air. More generally, we think this exchange is indicative of the growing realization that inquiries into language development must consider potential external factors (see Dediu 2015)...

Abstract

Myopia, currently at epidemic levels in East Asia, is a leading cause of untreatable visual impairment. Genome-wide association studies (GWAS) in adults have identified 39 loci associated with refractive error and myopia. Here, the age-of-onset of association between genetic variants at these 39 loci and refractive error was investigated in 5200 children assessed longitudinally across ages 7-15 years, along with gene-environment interactions involving the major environmental risk-factors, nearwork and time outdoors. Specific variants could be categorized as showing evidence of: (a) early-onset effects remaining stable through childhood, (b) early-onset effects that progressed further with increasing age, or (c) onset later in childhood (N = 10, 5 and 11 variants, respectively). A genetic risk score (GRS) for all 39 variants explained 0.6% (P = 6.6E-08) and 2.3% (P = 6.9E-21) of the variance in refractive error at ages 7 and 15, respectively, supporting increased effects from these genetic variants at older ages. Replication in multi-ancestry samples (combined N = 5599) yielded evidence of childhood onset for 6 of 12 variants present in both Asians and Europeans. There was no indication that variant or GRS effects altered depending on time outdoors, however 5 variants showed nominal evidence of interactions with nearwork (top variant, rs7829127 in ZMAT4; P = 6.3E-04).

Abstract

Myopia is the most common human eye disorder and it results from complex genetic and environmental causes. The rapidly increasing prevalence of myopia poses a major public health challenge. Here, the CREAM consortium performs a joint meta-analysis to test single-nucleotide polymorphism (SNP) main effects and SNP × education interaction effects on refractive error in 40,036 adults from 25 studies of European ancestry and 10,315 adults from 9 studies of Asian ancestry. In European ancestry individuals, we identify six novel loci (FAM150B-ACP1, LINC00340, FBN1, DIS3L-MAP2K1, ARID2-SNAT1 and SLC14A2) associated with refractive error. In Asian populations, three genome-wide significant loci AREG, GABRR1 and PDE10A also exhibit strong interactions with education (P<8.5 × 10−5), whereas the interactions are less evident in Europeans. The discovery of these loci represents an important advance in understanding how gene and environment interactions contribute to the heterogeneity of myopia

Abstract

The oldest of the Celtic language family, Irish differs considerably from English, notably with respect to word order and case marking. In spite of differences in surface constituent structure, less restricted accounts of bilingual shared syntax predict that processing datives and passives in Irish should prime the production of their English equivalents. Furthermore, this cross-linguistic influence should be sensitive to L2 proficiency, if shared structural representations are assumed to develop over time. In Experiment 1, we investigated cross-linguistic structural priming from Irish to English in 47 bilingual adolescents who are educated through Irish. Testing took place in a classroom setting, using written primes and written sentence generation. We found that priming for prepositional-object (PO) datives was predicted by self-rated Irish (L2) proficiency, in line with previous studies. In Experiment 2, we presented translations of the materials to an English-educated control group (n=54). We found a within-language priming effect for PO datives, which was not modulated by English (L1) proficiency. Our findings are compatible with current theories of bilingual language processing and L2 syntactic acquisition.

Abstract

Individuals with heterozygous 16p11.2 deletions reportedly suffer from a variety of difficulties with speech and language. Indeed, recent copy-number variant screens of children with childhood apraxia of speech (CAS), a specific and rare motor speech disorder, have identified three unrelated individuals with 16p11.2 deletions. However, the nature and prevalence of speech and language disorders in general, and CAS in particular, is unknown for individuals with 16p11.2 deletions. Here we took a genotype-first approach, conducting detailed and systematic characterization of speech abilities in a group of 11 unrelated children ascertained on the basis of 16p11.2 deletions. To obtain the most precise and replicable phenotyping, we included tasks that are highly diagnostic for CAS, and we tested children under the age of 18 years, an age group where CAS has been best characterized. Two individuals were largely nonverbal, preventing detailed speech analysis, whereas the remaining nine met the standard accepted diagnostic criteria for CAS. These results link 16p11.2 deletions to a highly penetrant form of CAS. Our findings underline the need for further precise characterization of speech and language profiles in larger groups of affected individuals, which will also enhance our understanding of how genetic pathways contribute to human communication disorders.

Abstract

This paper shows that the dictation task, a well-
known testing instrument in language education, has
untapped potential as a research tool for studying
speech perception. We describe how transcriptions
can be scored on measures of lexical, orthographic,
phonological, and semantic similarity to target
phrases to provide comprehensive information about
accuracy at different processing levels. The former
three measures are automatically extractable,
increasing objectivity, and the middle two are
gradient, providing finer-grained information than
traditionally used. We evaluate the measures in an
English dictation task featuring phonetically reduced
continuous speech. Whereas the lexical and
orthographic measures emphasize listeners’ word
identification difficulties, the phonological measure
demonstrates that listeners can often still recover
phonological features, and the semantic measure
captures their ability to get the gist of the utterances.
Correlational analyses and a discussion of practical
and theoretical considerations show that combining
multiple measures improves the dictation task’s
utility as a research tool.

Abstract

Lexically guided perceptual learning has traditionally been studied with ambiguous consonant sounds to which native listeners are exposed in a purely receptive listening context. To extend previous research, we investigate whether lexically guided learning applies to a vowel shift encountered by non-native listeners in an interactive dialogue. Dutch participants played a two-player game in English in either a control condition, which contained no evidence for a vowel shift, or a lexically constraining condition, in which onscreen lexical information required them to re-interpret their interlocutor’s /ɪ/ pronunciations as representing /ε/. A phonetic categorization pre-test and post-test were used to assess whether the game shifted listeners’ phonemic boundaries such that more of the /ε/-/ɪ/ continuum came to be perceived as /ε/. Both listener groups showed an overall post-test shift toward /ɪ/, suggesting that vowel perception may be sensitive to directional biases related to properties of the speaker’s vowel space. Importantly, listeners in the lexically constraining condition made relatively more post-test /ε/ responses than the control group, thereby exhibiting an effect of lexically guided adaptation. The results thus demonstrate that non-native listeners can adjust their phonemic boundaries on the basis of lexical information to accommodate a vowel shift learned in interactive conversation.

Abstract

When speaking in any language, speakers must conceptualize what they want to say before they can formulate and articulate their message. We present two experiments employing a novel experimental paradigm in which the formulating and articulating stages of speech production were kept identical across conditions of differing conceptualizing difficulty. We tracked the effect of difficulty in conceptualizing during the generation of speech (Experiment 1) and during the abandonment and regeneration of speech (Experiment 2) on speaking fluency by Dutch native speakers in their first (L1) and second (L2) language (English). The results showed that abandoning and especially regenerating a speech plan taxes the speaker, leading to disfluencies. For most fluency measures, the increases in disfluency were similar across L1 and L2. However, a significant interaction revealed that abandoning and regenerating a speech plan increases the time needed to solve conceptual difficulties while speaking in the L2 to a greater degree than in the L1. This finding supports theories in which cognitive resources for conceptualizing are shared with those used for later stages of speech planning. Furthermore, a practical implication for language assessment is that increasing the conceptual difficulty of speaking tasks should be considered with caution.

Abstract

A long-standing debate in cognitive neurosciences concerns the effect of music on verbal learning and memory. Research in this field has largely provided conflicting results in both clinical as well as non-clinical populations. Although several studies have shown a positive effect of music on the encoding and retrieval of verbal stimuli, music has also been suggested to hinder mnemonic performance by dividing attention. In an attempt to explain this conflict, we review the most relevant literature on the effects of music on verbal learning and memory. Furthermore, we specify several mechanisms through which music may modulate these cognitive functions. We suggest that the extent to which music boosts these cognitive functions relies on experimental factors, such as the relative complexity of musical and verbal stimuli employed. These factors should be carefully considered in further studies, in order to reliably establish how and when music boosts verbal memory and learning. The answers to these questions are not only crucial for our knowledge of how music influences cognitive and brain functions, but may have important clinical implications. Considering the increasing number of approaches using music as a therapeutic tool, the importance of understanding exactly how music works can no longer be underestimated.

Abstract

A large literature in social neuroscience has associated the medial prefrontal cortex (mPFC) with the processing of self-related information. However, only recently have social neuroscience studies begun to consider the large behavioral literature showing a strong self-positivity bias, and these studies have mostly focused on its correlates during self-related judgments and decision making. We carried out a functional MRI (fMRI) study to ask whether the mPFC would show effects of the self-positivity bias in a paradigm that probed participants’ self-concept without any requirement of explicit self-judgment. We presented social vignettes that were either self-relevant or non-self-relevant with a neutral, positive, or negative outcome described in the second sentence. In previous work using event-related potentials, this paradigm has shown evidence of a self-positivity bias that influences early stages of semantically processing incoming stimuli. In the present fMRI study, we found evidence for this bias within the mPFC: an interaction between self-relevance and valence, with only positive scenarios showing a self vs other effect within the mPFC. We suggest that the mPFC may play a role in maintaining a positively-biased self-concept and discuss the implications of these findings for the social neuroscience of the self and the role of the mPFC.

Abstract

The aim of the present work is to identify the evolutionary origins of the ability to speak and understand a natural language. I will adopt Botha’s “Windows Approach” (Language and Communication, 2006, 26, pp. 129–143) in order to justify the following two assumptions, which concern the evolutionary continuity between human language and animals’ communication systems: (a) despite the uniqueness of human language in sharing and conveying utterances with an open-ended structure, some isolated components of our linguistic competence are shared with non- human primates, grounding a line of evolutionary continuity; (b) the very first “linguistic” utterances were holistic, that is, whole bunches of sounds able to convey information despite their lack of modern syntax. I will address such suppositions through the comparative analysis of three constitutive features of human language: syntax, the semantic value of utterances, and the ability to attribute mental states to conspecifics, i.e. the theory of mind.

Abstract

Across a wide range of animal taxa, prosodic modulation of the voice can express emotional information and is used to coordinate vocal interactions between multiple individuals. Within a comparative approach to animal communication systems, I hypothesize that the ability for emotional and interactional prosody (EIP) paved the way for the evolution of linguistic prosody – and perhaps also of music, continuing to play a vital role in the acquisition of language. In support of this hypothesis, I review three research fields: (i) empirical studies on the adaptive value of EIP in non-human primates, mammals, songbirds, anurans, and insects; (ii) the beneficial effects of EIP in scaffolding language learning and social development in human infants; (iii) the cognitive relationship between linguistic prosody and the ability for music, which has often been identified as the evolutionary precursor of language.

Abstract

The perception of danger in the environment can induce physiological responses (such as a heightened state of arousal) in animals, which may cause measurable changes in the prosodic modulation of the voice (Briefer, 2012). The ability to interpret the prosodic features of animal calls as an indicator of emotional arousal may have provided the first hominins with an adaptive advantage, enabling, for instance, the recognition of a threat in the surroundings. This ability might have paved the ability to process meaningful prosodic modulations in the emerging linguistic utterances.

Abstract

Humans combine multiple sources of information to comprehend meanings. These sources can be characterized as linguistic (i.e., lexical units and/or sentences) or paralinguistic (e.g. body posture, facial expression, voice intonation, pragmatic context). Emotion communication is a special case in which linguistic and paralinguistic dimensions can simultaneously denote the same, or multiple incongruous referential meanings. Think, for instance, about when someone says “I’m sad!”, but does so with happy intonation and a happy facial expression. Here, the communicative channels express very specific (although conflicting) emotional states as denotations. In such cases of intermodal incongruence, are we involuntarily biased to respond to information in one channel over the other? We hypothesize that humans are involuntary biased to respond to prosody over verbal content and facial expression, since the ability to communicate socially relevant information such as basic emotional states through prosodic modulation of the voice might have provided early hominins with an adaptive advantage that preceded the emergence of segmental speech (Darwin 1871; Mithen, 2005). To address this hypothesis, we examined the interaction between multiple communicative channels in recruiting attentional resources, within a Stroop interference task (i.e. a task in which different channels give conflicting information; Stroop, 1935). In experiment 1, we used synonyms of “happy” and “sad” spoken with happy and sad prosody. Participants were asked to identify the emotion expressed by the verbal content while ignoring prosody (Word task) or vice versa (Prosody task). Participants responded faster and more accurately in the Prosody task. Within the Word task, incongruent stimuli were responded to more slowly and less accurately than congruent stimuli. In experiment 2, we adopted synonyms of “happy” and “sad” spoken in happy and sad prosody, while a happy or sad face was displayed. Participants were asked to identify the emotion expressed by the verbal content while ignoring prosody and face (Word task), to identify the emotion expressed by prosody while ignoring verbal content and face (Prosody task), or to identify the emotion expressed by the face while ignoring prosody and verbal content (Face task). Participants responded faster in the Face task and less accurately when the two non-focused channels were expressing an emotion that was incongruent with the focused one, as compared with the condition where all the channels were congruent. In addition, in the Word task, accuracy was lower when prosody was incongruent to verbal content and face, as compared with the condition where all the channels were congruent. Our data suggest that prosody interferes with emotion word processing, eliciting automatic responses even when conflicting with both verbal content and facial expressions at the same time. In contrast, although processed significantly faster than prosody and verbal content, faces alone are not sufficient to interfere in emotion processing within a three-dimensional Stroop task. Our findings align with the hypothesis that the ability to communicate emotions through prosodic modulation of the voice – which seems to be dominant over verbal content - is evolutionary older than the emergence of segmental articulation (Mithen, 2005; Fitch, 2010). This hypothesis fits with quantitative data suggesting that prosody has a vital role in the perception of well-formed words (Johnson & Jusczyk, 2001), in the ability to map sounds to referential meanings (Filippi et al., 2014), and in syntactic disambiguation (Soderstrom et al., 2003). This research could complement studies on iconic communication within visual and auditory domains, providing new insights for models of language evolution. Further work aimed at how emotional cues from different modalities are simultaneously integrated will improve our understanding of how humans interpret multimodal emotional meanings in real life interactions.

Abstract

Temporal regularities in speech, such as interdependencies in the timing of speech events, are thought to scaffold early acquisition of the building blocks in speech. By providing on-line clues to the location and duration of upcoming syllables, temporal structure may aid segmentation and clustering of continuous speech into separable units. This hypothesis tacitly assumes that learners exploit predictability in the temporal structure of speech. Existing measures of speech timing tend to focus on first-order regularities among adjacent units, and are overly sensitive to idiosyncrasies in the data they describe. Here, we compare several statistical methods on a sample of 18 languages, testing whether syllable occurrence is predictable over time. Rather than looking for differences between languages, we aim to find across languages (using clearly defined acoustic, rather than orthographic, measures), temporal predictability in the speech signal which could be exploited by a language learner. First, we analyse distributional regularities using two novel techniques: a Bayesian ideal learner analysis, and a simple distributional measure. Second, we model higher-order temporal structure—regularities arising in an ordered series of syllable timings—testing the hypothesis that non-adjacent temporal structures may explain the gap between subjectively-perceived temporal regularities, and the absence of universally-accepted lower-order objective measures. Together, our analyses provide limited evidence for predictability at different time scales, though higher-order predictability is difficult to reliably infer. We conclude that temporal predictability in speech may well arise from a combination of individually weak perceptual cues at multiple structural levels, but is challenging to pinpoint.

Abstract

The rise of genomic technologies has yielded exciting new routes for studying the biological foundations of language. Researchers have begun to identify genes implicated in neurodevelopmental disorders that disrupt speech and language skills. This chapter illustrates how such work can provide powerful entry points into the critical neural pathways using FOXP2 as an example. Rare mutations of this gene cause problems with learning to sequence mouth movements during speech, accompanied by wide-ranging impairments in language production and comprehension. FOXP2 encodes a regulatory protein, a hub in a network of other genes, several of which have also been associated with language-related impairments. Versions of FOXP2 are found in similar form in many vertebrate species; indeed, studies of animals and birds suggest conserved roles in the development and plasticity of certain sets of neural circuits. Thus, the contributions of this gene to human speech and language involve modifications of evolutionarily ancient functions.

Abstract

Theories addressing the biological basis of language must be built on
an appreciation of the ways that molecular and neurobiological substrates
can contribute to aspects of human cognition. Here, we lay out
the principles by which a genome could potentially encode the necessary
information to produce a language-ready brain. We describe
what genes are; how they are regulated; and how they affect the formation,
function, and plasticity of neuronal circuits. At each step,
we give examples of molecules implicated in pathways that are important
for speech and language. Finally, we discuss technological advances
in genomics that are revealing considerable genotypic variation in
the human population, from rare mutations to common polymorphisms,
with the potential to relate this variation to natural variability
in speech and language skills. Moving forward, an interdisciplinary
approach to the language sciences, integrating genetics, neurobiology,
psychology, and linguistics, will be essential for a complete understanding
of our unique human capacities.

Abstract

FOXP2 mutations cause a speech and language disorder, raising interest in potential roles of this gene in human evolution. A new study re-evaluates genomic variation at the human FOXP2 locus but finds no evidence of recent adaptive evolution.

Abstract

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

Abstract

Event-related potentials (ERPs) provide a window into how the brain is processing language. Here, we propose a theory that argues that ERPs such as the N400 and P600 arise as side effects of an error-based learning mechanism that explains linguistic adaptation and language learning. We instantiated this theory in a connectionist model that can simulate data from three studies on the N400 (amplitude modulation by expectancy, contextual constraint, and sentence position), five studies on the P600 (agreement, tense, word category, subcategorization and garden-path sentences), and a study on the semantic P600 in role reversal anomalies. Since ERPs are learning signals, this account explains adaptation of ERP amplitude to within-experiment frequency manipulations and the way ERP effects are shaped by word predictability in earlier sentences. Moreover, it predicts that ERPs can change over language development. The model provides an account of the sensitivity of ERPs to expectation mismatch, the relative timing of the N400 and P600, the semantic nature of the N400, the syntactic nature of the P600, and the fact that ERPs can change with experience. This approach suggests that comprehension ERPs are related to sentence production and language acquisition mechanisms

Abstract

Systematic investigations into the role of semantics in the speech production process have remained elusive. This special issue aims at moving forward toward a more detailed account of how precisely conceptual information is used to access the lexicon in speaking and what corresponding format of conceptual representations needs to be assumed. The studies presented in this volume investigated effects of conceptual processing on different processing stages of language production, including sentence formulation, lemma selection, and word form access.

Abstract

The typological contrast between verb- and satellite-framed languages (Talmy, 1985) has set the basis for many empirical studies on L2 acquisition. The current analysis goes beyond this typology by looking in detail at the conceptualization of the path of motion in a motion event. We take as a starting point the cognitive salience of specific elements of motion events that are relevant when conceptualizing space. When expressing direction in French, specific spatial relations involving the entity in motion (its alignment and its distance toward a [potential] endpoint) are relevant, given a variety of path verbs in the lexicon expressing this information (e.g., se diriger vers, avancer to direct oneself toward,' to advance'). This is not the case in German (manner verbs in the lexicon mainly). In German, spatial information is packaged in adjuncts and particles and the path of motion is typically structured via features of the ground (entlanglaufen/fahren to walk/drive along') or endpoints (to walk/drive to/toward'). We investigate those fundamental differences in spatial conceptualization in French and German, as reflected in pre-articulatory patterns of attention allocation (measured with eye tracking) to moving entities and endpoints in motion scenes in an event description task. Our focus is on spatial conceptualization in an L2 (French L2 users of German), analyzing the extent to which these L2 users display target-like patterns or traces of L1 conceptualization transfer. Findings show that, in line with directional concepts expressed in verbs, L1 French speakers allocate more attention to entities in motion and endpoints, before utterance onset, than L1 German speakers do. The L2 German speakers pattern with L1 German speakers in the use of manner verbs, but they have not fully acquired the spatial concepts and means that structure the path of motion in the L2. This is reflected in pre-articulatory attention allocation patterns, according to which the L2 speakers pattern with native speakers of their L1 (French). The findings show a continued deep entrenchment of L1-based processing patterns and spatial frames of reference when speakers prepare for speech in an L2

Abstract

Studies on gaze allocation during sentence production have recently begun to implement cross-linguistic analyses in the investigation of visual and linguistic processing. The underlying assumption is that the aspects of a scene that attract attention prior to articulation are, in part, linked to the specifi c linguistic system and means used for expression. The present study concerns naturalistic, dynamic scenes (video clips) showing causative events (agent acting on an object) and exploits grammatical diff erences in the domain of verbal aspect, and the way in which the status of an event (a specifi c vs. habitual instance of an event) is encoded in English and German. Fixations in agent and action areas of interest were timelocked to utterance onset, and we focused on the pre-articulatory time span to shed light on sentence planning processes, involving message generation and scene conceptualization.

Abstract

We investigated whether brain potentials of grammatical aspect processing resemble semantic or morpho-syntactic processing, or whether they instead are characterized by an entirely distinct pattern in the same individuals. We studied aspect from the perspective of agreement between the temporal information in the context (temporal adverbials, e.g., Right now) and a morpho-syntactic marker of grammatical aspect (e.g., progressive is swimming). Participants read questions providing a temporal context that was progressive (What is Sophie doing in the pool right now?) or habitual (What does Sophie do in the pool every Monday?). Following a lead-in sentence context such as Right now, Sophie…, we measured event-related brain potentials (ERPs) time-locked to verb phrases in four different conditions, e.g., (a) is swimming (control); (b) ∗is cooking (semantic violation); (c) ∗are swimming (morpho-syntactic violation); or (d)?swims (aspect mismatch); …in the pool.” The collected ERPs show typical N400 and P600 effects for semantics and morpho-syntax, while aspect processing elicited an Early Negativity (250–350 ms). The aspect-related Negativity was short-lived and had a central scalp distribution with an anterior onset. This differentiates it not only from the semantic N400 effect, but also from the typical LAN (Left Anterior Negativity), that is frequently reported for various types of agreement processing. Moreover, aspect processing did not show a clear P600 modulation. We argue that the specific context for each item in this experiment provided a trigger for agreement checking with temporal information encoded on the verb, i.e., morphological aspect marking. The aspect-related Negativity obtained for aspect agreement mismatches reflects a violated expectation concerning verbal inflection (in the example above, the expected verb phrase was Sophie is X-ing rather than Sophie X-s in condition d). The absence of an additional P600 for aspect processing suggests that the mismatch did not require additional reintegration or processing costs. This is consistent with participants’ post hoc grammaticality judgements of the same sentences, which overall show a high acceptability of aspect mismatch sentences.

Abstract

Recent studies have identified neural correlates of language effects on perception in static domains of experience such as colour and objects. The generalization of such effects to dynamic domains like motion events remains elusive. Here, we focus on grammatical differences between languages relevant for the description of motion events and their impact on visual scene perception. Two groups of native speakers of German or English were presented with animated videos featuring a dot travelling along a trajectory towards a geometrical shape (endpoint). English is a language with grammatical aspect in which attention is drawn to trajectory and endpoint of motion events equally. German, in contrast, is a non-aspect language which highlights endpoints. We tested the comparative perceptual saliency of trajectory and endpoint of motion events by presenting motion event animations (primes) followed by a picture symbolising the event (target): In 75% of trials, the animation was followed by a mismatching picture (both trajectory and endpoint were different); in 10% of trials, only the trajectory depicted in the picture matched the prime; in 10% of trials, only the endpoint matched the prime; and in 5% of trials both trajectory and endpoint were matching, which was the condition requiring a response from the participant. In Experiment 1 we recorded event-related brain potentials elicited by the picture in native speakers of German and native speakers of English. German participants exhibited a larger P3 wave in the endpoint match than the trajectory match condition, whereas English speakers showed no P3 amplitude difference between conditions. In Experiment 2 participants performed a behavioural motion matching task using the same stimuli as those used in Experiment 1. German and English participants did not differ in response times showing that motion event verbalisation cannot readily account for the difference in P3 amplitude found in the first experiment. We argue that, even in a non-verbal context, the grammatical properties of the native language and associated sentence-level patterns of event encoding influence motion event perception, such that attention is automatically drawn towards aspects highlighted by the grammar.

Abstract

In the Cha’palaa language of Ecuador the main-clause use of the otherwise non-finite morpheme -ba can be accounted for by a specific interactive practice: the ‘counter-assertion’ of statement or implicature of a previous conversational turn. Attention to the ways in which different constructions are deployed in such recurrent conversational contexts reveals a plausible account for how this type of dependent clause has come to be one of the options for finite clauses. After giving some background on Cha’palaa and placing ba clauses within a larger ecology of insubordination constructions in the language, this chapter uses examples from a video corpus of informal conversation to illustrate how interactive data provides answers that may otherwise be elusive for understanding how the different grammatical options for Cha’palaa finite verb constructions have been structured by insubordination

Abstract

From the study of sign languages we know that the visual modality robustly supports the encoding of conventionalized linguistic elements, yet while the same possibility exists for the visual bodily behavior of speakers of spoken languages, such practices are often referred to as ‘gestural’ and are not usually described in linguistic terms. This article describes a practice of speakers of the Brazilian indigenous language Nheengatú of pointing to positions along the east-west axis of the sun’s arc for time-of-day reference, and illustrates how it satisfies any of the common criteria for linguistic elements, as a system of standardized and productive form-meaning pairings whose contributions to propositional meaning remain stable across contexts. First, examples from a video corpus of natural speech demonstrate these conventionalized properties of Nheengatú time reference across multiple speakers. Second, a series of video-based elicitation stimuli test several dimensions of its conventionalization for nine participants. The results illustrate why modality is not an a priori reason that linguistic properties cannot develop in the visual practices that accompany spoken language. The conclusion discusses different possible morphosyntactic and pragmatic analyses for such conventionalized visual elements and asks whether they might be more crosslinguistically common than we presently know.

Abstract

This article describes the interactional patterns and linguistic structures associated with otherinitiated repair, as observed in a corpus of video-recorded conversation in the Cha’palaa (a Barbacoan language spoken in north-western Ecuador). Special attention is given to the relation of repair formats to the morphosyntactic and intonational systems of the language. It examines the distinctive falling intonation observed with interjections and content question formats and the pattern of a held mid-high tone observed in polarity questions, as well as the function of Cha’palaa grammatical features such as the case marking system, the nominal classifiers and the verb classification system as formats for repair initiation. It considers a selection of examples from a video corpus to illustrate a broad range of sequence types of opened and restricted other-initiated repair, noting that Cha’palaa had the highest relative rate of open repair in the cross-linguistic sample. It also considers the extension of OIR to other practices such as news uptake and disagreement in the Cha’palaa corpus.

Abstract

This chapter surveys the available data on Barbacoan languages and their neighbors to explore a case study of switch reference within a single language family and in a situation of areal contact. To the extent possible given the available data, we weigh accounts appealing to common inheritance and areal convergence to ask what combination of factors led to the current state of these languages. We discuss the areal distribution of switch reference systems in the northwest Andean region, the different types of systems and degrees of complexity observed, and scenarios of contact and convergence, particularly in the case of Barbacoan and Ecuadorian Quechua. We then covers each of the Barbacoan languages’ systems (with the exception of Totoró, represented by its close relative Guambiano), identifying limited formal cognates, primarily between closely-related Tsafiki and Cha’palaa, as well as broader functional similarities, particularly in terms of interactions with topic/focus markers. n accounts for the current state of affairs with a complex scenario of areal prevalence of switch reference combined with deep structural family inheritance and formal re-structuring of the systems over time

Abstract

This article expands the study of other-initiated repair in conversation—when one party
signals a problemwith producing or perceiving another’s turn at talk—into the domain
of visual bodily behavior. It presents one primary cross-linguistic finding about the
timing of visual bodily behavior in repair sequences: if the party who initiates repair
accompanies their turn with a “hold”—when relatively dynamic movements are
temporarily andmeaningfully held static—this positionwill not be disengaged until the
problem is resolved and the sequence closed. We base this finding on qualitative and
quantitative analysis of corpora of conversational interaction from three unrelated languages representing two different modalities: Northern Italian, the Cha’palaa language of Ecuador, and Argentine Sign Language. The cross-linguistic similarities
uncovered by this comparison suggest that visual bodily practices have been
semiotized for similar interactive functions across different languages and modalities
due to common pressures in face-to-face interaction.

Abstract

The ethnographic literature has described the northwest Amazon as an area of shared culture across linguistic groups. This paper illustrates how a principle of semantic transparency across languages is a key means of establishing elements of a common regional culture through practices like the calquing of ethnonyms and toponyms so that they are semantically, but not phonologically, equivalent across languages. It places the northwest Amazon in a general discussion of cross-linguistic naming practices in South America and considers the extent to which a preference for semantic transparency can be linked to cases of widespread cultural “calquing”. It also addresses the principle of semantic transparency beyond specific referential phrases and into larger discourse structures. It concludes that an attention to semiotic practices in multilingual settings can provide new and more complex ways of thinking about the idea of shared culture

Abstract

The nineteenth century witnessed some of the greatest neuroanatomists of all times. Amongst them is the largely forgotten Heinrich Sachs, a student of Carl Wernicke in Breslau.

Abstract

This is the first complete translation of Heinrich Sachs' outstanding white matter atlas dedicated to the occipital lobe. This work is accompanied by a prologue by Prof Carl Wernicke who for many years was Sachs' mentor in Breslau and enthusiastically supported his work.

Abstract

Previous studies suggest that linguistic material can modulate visual perception, but it is unclear at which level of processing these interactions occur. Here we aim to dissociate between two competing models of language–perception interactions: a feed-forward and a feedback model. We capitalized on the fact that the models make different predictions on the role of feedback. We presented unmasked (aware) or masked (unaware) words implying motion (e.g. “rise,” “fall”), directly preceding an upward or downward visual motion stimulus. Crucially, masking leaves intact feed-forward information processing from low- to high-level regions, whereas it abolishes subsequent feedback. Under this condition, participants remained faster and more accurate when the direction implied by the motion word was congruent with the direction of the visual motion stimulus. This suggests that language–perception interactions are driven by the feed-forward convergence of linguistic and perceptual information at higher-level conceptual and decision stages.

Abstract

Previous studies have shown that language can modulate visual perception, by biasing and/
or enhancing perceptual performance. However, it is still debated where in the brain visual and
linguistic information are integrated, and whether the effects of language on perception are
automatic and persist even in the absence of awareness of the linguistic material. Here, we aimed
to explore the automaticity of language-perception interactions and the neural loci of these
interactions in an fMRI study. Participants engaged in a visual motion discrimination task (upward
or downward moving dots). Before each trial, a word prime was briefly presented that implied
upward or downward motion (e.g., “rise”, “fall”). These word primes strongly influenced behavior:
congruent motion words sped up reaction times and improved performance relative to incongruent
motion words. Neural congruency effects were only observed in the left middle temporal gyrus,
showing higher activity for congruent compared to incongruent conditions. This suggests that higherlevel
conceptual areas rather than sensory areas are the locus of language-perception interactions.
When motion words were rendered unaware by means of masking, they still affected visual motion
perception, suggesting that language-perception interactions may rely on automatic feed-forward
integration of perceptual and semantic material in language areas of the brain.

Abstract

Perception does not function as an isolated module but is tightly linked with other cognitive functions. Several studies have demonstrated an influence of language on motion perception, but it remains debated at which level of processing this modulation takes place. Some studies argue for an interaction in perceptual areas, but it is also possible that the interaction is mediated by "language areas" that integrate linguistic and visual information. Here, we investigated whether language-perception interactions were specific to the language-dominant left hemisphere by comparing the effects of language on visual material presented in the right (RVF) and left visual fields (LVF). Furthermore, we determined the neural locus of the interaction using fMRI. Participants performed a visual motion detection task. On each trial, the visual motion stimulus was presented in either the LVF or in the RVF, preceded by a centrally presented word (e.g., "rise"). The word could be congruent, incongruent, or neutral with regard to the direction of the visual motion stimulus that was presented subsequently. Participants were faster and more accurate when the direction implied by the motion word was congruent with the direction of the visual motion stimulus. Interestingly, the speed benefit was present only for motion stimuli that were presented in the RVF. We observed a neural counterpart of the behavioral facilitation effects in the left middle temporal gyrus, an area involved in semantic processing of verbal material. Together, our results suggest that semantic information about motion retrieved in language regions may automatically modulate perceptual decisions about motion.

Abstract

Lateralizations of brain structure and motor behavior have been observed in humans as early as the first trimester of gestation, and are likely to arise from asymmetrical genetic–developmental programs, as in other animals. Studies of gene expression levels in postmortem tissue samples, comparing the left and right sides of the human cerebral cortex, have generally not revealed striking transcriptional differences between the hemispheres. This is likely due to lateralization of gene expression being subtle and quantitative. However, a recent re-analysis and meta-analysis of gene expression data from the adult superior temporal and auditory cortex found lateralization of transcription of genes involved in synaptic transmission and neuronal electrophysiology. Meanwhile, human subcortical mid- and hindbrain structures have not been well studied in relation to lateralization of gene activity, despite being potentially important developmental origins of asymmetry. Genetic polymorphisms with small effects on adult brain and behavioral asymmetries are beginning to be identified through studies of large datasets, but the core genetic mechanisms of lateralized human brain development remain unknown. Identifying subtly lateralized genetic networks in the brain will lead to a new understanding of how neuronal circuits on the left and right are differently fine-tuned to preferentially support particular cognitive and behavioral functions.

Abstract

Prior language input is not lost but integrated with the current input. This principle is demonstrated by “reservoir computing”: Untrained recurrent neural networks project input sequences onto a random point in high-dimensional state space. Earlier inputs can be retrieved from this projection, albeit less reliably so as more input is received. The bottleneck is therefore not “Now-or-Never” but “Sooner-is-Better.

Abstract

Schizophrenia is a devastating psychiatric illness with high heritability. Brain structure and function differ, on average, between people with schizophrenia and healthy individuals. As common genetic associations are emerging for both schizophrenia and brain imaging phenotypes, we can now use genome-wide data to investigate genetic overlap. Here we integrated results from common variant studies of schizophrenia (33,636 cases, 43,008 controls) and volumes of several (mainly subcortical) brain structures (11,840 subjects). We did not find evidence of genetic overlap between schizophrenia risk and subcortical volume measures either at the level of common variant genetic architecture or for single genetic markers. These results provide a proof of concept (albeit based on a limited set of structural brain measures) and define a roadmap for future studies investigating the genetic covariance between structural or functional brain phenotypes and risk for psychiatric disorders

Abstract

This study aims to test a prediction of recent
theoretical frameworks in speech motor control: if speech production targets are specified in auditory
terms, people with better auditory acuity should have more precise speech targets.
To investigate this, we had participants perform speech perception and production tasks in a counterbalanced order. To assess speech perception acuity, we used an adaptive speech discrimination
task. To assess variability in speech production, participants performed a pseudo-word reading task; formant values were measured for each recording.
We predicted that speech production variability to correlate inversely with discrimination performance.
The results suggest that people do vary in their production and perceptual abilities, and that better discriminators have more distinctive vowel production targets, confirming our prediction. This
study highlights the importance of individual
differences in the study of speech motor control, and sheds light on speech production-perception interaction.

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

Models of speech production explain event-related suppression of the auditory cortical
response as reflecting a comparison between auditory predictions and feedback. The present MEG
study was designed to test two predictions from this framework: 1) whether the reduced auditory
response varies as a function of the mismatch between prediction and feedback; 2) whether individual
variation in this response is predictive of speech-motor adaptation.
Participants alternated between online imitation and listening tasks. In the imitation task, participants
began each trial producing the same vowel (/e/) and subsequently listened to and imitated auditorilypresented
vowels varying in acoustic distance from /e/.
Results replicated suppression, with a smaller M100 during speaking than listening. Although we did
not find unequivocal support for the first prediction, participants with less M100 suppression were
better at the imitation task. These results are consistent with the enhancement of M100 serving as an
error signal to drive subsequent speech-motor adaptation.

Abstract

PTEN is a tumor suppressor associated with an inherited cancer syndrome and an important regulator of ongoing neural connectivity and plasticity. The present study examined molecular and phenotypic characteristics of individuals with germline heterozygous PTEN mutations and autism spectrum disorder (ASD) (PTEN-ASD), with the aim of identifying pathophysiologic markers that specifically associate with PTEN-ASD and that may serve as targets for future treatment trials. PTEN-ASD patients (n=17) were compared with idiopathic (non-PTEN) ASD patients with (macro-ASD, n=16) and without macrocephaly (normo-ASD, n=38) and healthy controls (n=14). Group differences were evaluated for PTEN pathway protein expression levels, global and regional structural brain volumes and cortical thickness measures, neurocognition and adaptive behavior. RNA expression patterns and brain characteristics of a murine model of Pten mislocalization were used to further evaluate abnormalities observed in human PTEN-ASD patients. PTEN-ASD had a high proportion of missense mutations and showed reduced PTEN protein levels. Compared with the other groups, prominent white-matter and cognitive abnormalities were specifically associated with PTEN-ASD patients, with strong reductions in processing speed and working memory. White-matter abnormalities mediated the relationship between PTEN protein reductions and reduced cognitive ability. The Ptenm3m4 murine model had differential expression of genes related to myelination and increased corpus callosum. Processing speed and working memory deficits and white-matter abnormalities may serve as useful features that signal clinicians that PTEN is etiologic and prompting referral to genetic professionals for gene testing, genetic counseling and cancer risk management; and could reveal treatment targets in trials of treatments for PTEN-ASD.

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

Do people incrementally incorporate the meaning of quantifier expressions to understand an unfolding sentence? Most previous studies concluded that quantifiers do not immediately influence how a sentence is understood based on the observation that online N400-effects differed from offline plausibility judgments. Those studies, however, used serial visual presentation (SVP), which involves unnatural reading. In the current ERP-experiment, we presented spoken positive and negative quantifier sentences (“Practically all/practically no postmen prefer delivering mail, when the weather is good/bad during the day”). Different from results obtained in a previously reported SVP-study (Nieuwland, 2016) sentence truth-value N400 effects occurred in positive and negative quantifier sentences alike, reflecting fully incremental quantifier comprehension. This suggests that the prosodic information available during spoken language comprehension supports the generation of online predictions for upcoming words and that, at least for quantifier sentences, comprehension of spoken language may proceed more incrementally than comprehension during SVP reading.

Abstract

Achieving linguistic proficiency requires identifying words from speech, and discovering the constraints that govern the way those words are used. In a recent study of non-adjacent dependency learning, Frost and Monaghan (2016) demonstrated that learners may perform these tasks together, using similar statistical processes - contrary to prior suggestions. However, in their study, non-adjacent dependencies were marked by phonological cues (plosive-continuant-plosive structure), which may have influenced learning. Here, we test the necessity of these cues by comparing learning across three conditions; fixed phonology, which contains these cues, varied phonology, which omits them, and shapes, which uses visual shape sequences to assess the generality of statistical processing for these tasks. Participants segmented the sequences and generalized the structure in both auditory conditions, but learning was best when phonological cues were present. Learning was around chance on both tasks for the visual shapes group, indicating statistical processing may critically differ across domains.

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

Language learning requires mastering multiple tasks, including segmenting speech to identify words, and learning the syntactic role of these words within sentences. A key question in language acquisition research is the extent to which these tasks are sequential or successive, and consequently whether they may be driven by distinct or similar computations. We explored a classic artificial language learning paradigm, where the language structure is defined in terms of non-adjacent dependencies. We show that participants are able to use the same statistical information at the same time to segment continuous speech to both identify words and to generalise over the structure, when the generalisations were over novel speech that the participants had not previously experienced. We suggest that, in the absence of evidence to the contrary, the most economical explanation for the effects is that speech segmentation and grammatical generalisation are dependent on similar statistical processing mechanisms.

Abstract

Recent studies suggest that high-frequency words may benefit speech segmentation (Bortfeld, Morgan, Golinkoff, & Rathbun, 2005) and grammatical categorisation (Monaghan, Christiansen, & Chater, 2007). To date, these tasks have been examined separately, but not together. We familiarised adults with continuous speech comprising repetitions of target words, and compared learning to a language in which targets appeared alongside high-frequency marker words. Marker words reliably preceded targets, and distinguished them into two otherwise unidentifiable categories. Participants completed a 2AFC segmentation test, and a similarity judgement categorisation test. We tested transfer to a word-picture mapping task, where words from each category were used either consistently or inconsistently to label actions/objects. Participants segmented the speech successfully, but only demonstrated effective categorisation when speech contained high-frequency marker words. The advantage of marker words extended to the early stages of the transfer task. Findings indicate the same high-frequency words may assist speech segmentation and grammatical categorisation.

Abstract

The past two decades have seen an upsurge of interest in the collective behaviors of complex systems composed of many agents entrained to each other and to external events. In this paper, we extend the concept of entrainment to the dynamics of human collective attention. We conducted a detailed investigation of the unfolding of human entrainment—as expressed by the content and patterns of hundreds of thousands of messages on Twitter—during the 2012 US presidential debates. By time-locking these data sources, we quantify the impact of the unfolding debate on human attention at three time scales. We show that collective social behavior covaries second-by-second to the interactional dynamics of the debates: A candidate speaking induces rapid increases in mentions of his name on social media and decreases in mentions of the other candidate. Moreover, interruptions by an interlocutor increase the attention received. We also highlight a distinct time scale for the impact of salient content during the debates: Across well-known remarks in each debate, mentions in social media start within 5–10 seconds after it occurs; peak at approximately one minute; and slowly decay in a consistent fashion across well-known events during the debates. Finally, we show that public attention after an initial burst slowly decays through the course of the debates. Thus we demonstrate that large-scale human entrainment may hold across a number of distinct scales, in an exquisitely time-locked fashion. The methods and results pave the way for careful study of the dynamics and mechanisms of large-scale human entrainment.

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

Photosensitivity is a heritable abnormal cortical response to flickering light, manifesting as particular electroencephalographic changes, with or without seizures. Photosensitivity is prominent in a very rare epileptic encephalopathy due to de novo CHD2 mutations, but is also seen in epileptic encephalopathies due to other gene mutations. We determined whether CHD2 variation underlies photosensitivity in common epilepsies, specific photosensitive epilepsies and individuals with photosensitivity without seizures. We studied 580 individuals with epilepsy and either photosensitive seizures or abnormal photoparoxysmal response on electroencephalography, or both, and 55 individuals with photoparoxysmal response but no seizures. We compared CHD2 sequence data to publicly available data from 34 427 individuals, not enriched for epilepsy. We investigated the role of unique variants seen only once in the entire data set. We sought CHD2 variants in 238 exomes from familial genetic generalized epilepsies, and in other public exome data sets. We identified 11 unique variants in the 580 individuals with photosensitive epilepsies and 128 unique variants in the 34 427 controls: unique CHD2 variation is over-represented in cases overall (P = 2·17 × 10−5). Among epilepsy syndromes, there was over-representation of unique CHD2 variants (3/36 cases) in the archetypal photosensitive epilepsy syndrome, eyelid myoclonia with absences (P = 3·50 × 10−4). CHD2 variation was not over-represented in photoparoxysmal response without seizures. Zebrafish larvae with chd2 knockdown were tested for photosensitivity. Chd2 knockdown markedly enhanced mild innate zebrafish larval photosensitivity. CHD2 mutation is the first identified cause of the archetypal generalized photosensitive epilepsy syndrome, eyelid myoclonia with absences. Unique CHD2 variants are also associated with photosensitivity in common epilepsies. CHD2 does not encode an ion channel, opening new avenues for research into human cortical excitability.

Abstract

Large-scale graph data in real-world applications is often not static but dynamic,
i. e., new nodes and edges appear over time. Current graph convolution approaches
are promising, especially, when all the graph’s nodes and edges are available dur-
ing training. When unseen nodes and edges are inserted after training, it is not
yet evaluated whether up-training or re-training from scratch is preferable. We
construct an experimental setup, in which we insert previously unseen nodes and
edges after training and conduct a limited amount of inference epochs. In this
setup, we compare adapting pretrained graph neural networks against retraining
from scratch. Our results show that pretrained models yield high accuracy scores
on the unseen nodes and that pretraining is preferable over retraining from scratch.
Our experiments represent a first step to evaluate and develop truly online variants
of graph neural networks.

Abstract

In this paper we present the first results of the application of computational methods, inspired by the ideas in McMahon & McMahon (2005), to a dataset collected from languages of every branch of the Tupian family (including all living non-Tupí-Guaraní languages) in order to produce a classification of the family based on lexical distance. We used both a Swadesh list (with historically stabler terms) and a list of animal and plant names for results comparison. In addition, we also selected more (HiHi) and less (LoLo) stable terms from the Swadesh list to form sublists for indepedent treatment. We compared the resulting NeighborNet networks and neighbor-joining cladograms and drew conclusions about their significance for the current understanding of the classification of Tupian languages. One important result is the lack of support for the currently discussed idea of an Eastern-Western division within Tupí

Abstract

Reading with Rapid Serial Visual Presentation (RSVP) has shown promise for optimizing screen space and increasing reading speed without compromising comprehension. Given the wide use of small-screen devices, the present study compared RSVP and traditional reading on three types of reading comprehension, reading speed, and subjective measures on a smart watch. Results confirm previous studies that show faster reading speed with RSVP without detracting from comprehension. Subjective data indicate that Traditional is strongly preferred to RSVP as a primary reading method. Given the optimal use of screen space, increased speed and comparable comprehension, future studies should focus on making RSVP a more comfortable format.

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

Mutations of the forkhead transcription factor FOXP2 gene have been implicated in inherited speech-and-language disorders, and specific Foxp2 expression patterns in neuronal populations and neuronal phenotypes arising from Foxp2 disruption have been described. However, molecular functions of FOXP2 are not completely understood. Here we report a requirement for FOXP2 in growth arrest of the osteosarcoma cell line 143B. We observed endogenous expression of this transcription factor both transiently in normally developing murine osteoblasts and constitutively in human SAOS-2 osteosarcoma cells blocked in early osteoblast development. Critically, we demonstrate that in 143B osteosarcoma cells with minimal endogenous expression, FOXP2 induced by growth arrest is required for up-regulation of p21WAF1/CIP1. Upon growth factor withdrawal, FOXP2 induction occurs rapidly and precedes p21WAF1/CIP1 activation. Additionally, FOXP2 expression could be induced by MAPK pathway inhibition in growth-arrested 143B cells, but not in traditional cell line models of osteoblast differentiation (MG-63, C2C12, MC3T3-E1). Our data are consistent with a model in which transient upregulation of Foxp2 in pre-osteoblast mesenchymal cells regulates a p21-dependent growth arrest checkpoint, which may have implications for normal mesenchymal and osteosarcoma biology

Abstract

Adult mouse ultrasonic vocalizations (USVs) occur in multiple behavioral and stimulus contexts associated with various levels of arousal, emotion, and social interaction. Here, in three experiments of increasing stimulus intensity (water; female urine; male interacting with adult female), we tested the hypothesis that USVs of adult males express the strength of arousal and emotion via different USV parameters (18 parameters analyzed). Furthermore, we analyzed two mouse lines with heterozygous Foxp2 mutations (R552H missense, S321X nonsense), known to produce severe speech and language disorders in humans. These experiments allowed us to test whether intact Foxp2 function is necessary for developing full adult USV repertoires, and whether mutations of this gene influence instinctive vocal expressions based on arousal and emotion. The results suggest that USV calling rate characterizes the arousal level, while sound pressure and spectro-temporal call complexity (overtones/harmonics, type of frequency jumps) may provide indices of levels of positive emotion. The presence of Foxp2 mutations did not qualitatively affect the USVs; all USV types that were found in wild-type animals also occurred in heterozygous mutants. However, mice with Foxp2 mutations displayed quantitative differences in USVs as compared to wild-types, and these changes were context dependent. Compared to wild-type animals, heterozygous mutants emitted mainly longer and louder USVs at higher minimum frequencies with a higher occurrence rate of overtones/harmonics and complex frequency jump types. We discuss possible hypotheses about Foxp2 influence on emotional vocal expressions, which can be investigated in future experiments using selective knockdown of Foxp2 in specific brain circuits.

Abstract

We present the first rhythm detection experiment using a Lindenmayer grammar, a self-similar recursive grammar shown previously to be learnable by adults using speech stimuli. Results show that learners were unable to correctly accept or reject grammatical and ungrammatical strings at the group level, although five (of 40) participants were able to do so with detailed instructions before the exposure phase.

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

Importance 
Neuroticism is a pervasive risk factor for psychiatric conditions. It genetically overlaps with major depressive disorder (MDD) and is therefore an important phenotype for psychiatric genetics. The Genetics of Personality Consortium has created a resource for genome-wide association analyses of personality traits in more than 63 000 participants (including MDD cases).Objectives
To identify genetic variants associated with neuroticism by performing a meta-analysis of genome-wide association results based on 1000 Genomes imputation; to evaluate whether common genetic variants as assessed by single-nucleotide polymorphisms (SNPs) explain variation in neuroticism by estimating SNP-based heritability; and to examine whether SNPs that predict neuroticism also predict MDD.Design, Setting, and Participants
Genome-wide association meta-analysis of 30 cohorts with genome-wide genotype, personality, and MDD data from the Genetics of Personality Consortium. The study included 63 661 participants from 29 discovery cohorts and 9786 participants from a replication cohort. Participants came from Europe, the United States, or Australia. Analyses were conducted between 2012 and 2014.Main Outcomes and Measures
Neuroticism scores harmonized across all 29 discovery cohorts by item response theory analysis, and clinical MDD case-control status in 2 of the cohorts.Results
A genome-wide significant SNP was found on 3p14 in MAGI1 (rs35855737; P = 9.26 × 10−9 in the discovery meta-analysis). This association was not replicated (P = .32), but the SNP was still genome-wide significant in the meta-analysis of all 30 cohorts (P = 2.38 × 10−8). Common genetic variants explain 15% of the variance in neuroticism. Polygenic scores based on the meta-analysis of neuroticism in 27 cohorts significantly predicted neuroticism (1.09 × 10−12 <} P {<} .05) and MDD (4.02 × 10−9 {<} P {< .05) in the 2 other cohorts.Conclusions and Relevance
This study identifies a novel locus for neuroticism. The variant is located in a known gene that has been associated with bipolar disorder and schizophrenia in previous studies. In addition, the study shows that neuroticism is influenced by many genetic variants of small effect that are either common or tagged by common variants. These genetic variants also influence MDD. Future studies should confirm the role of the MAGI1 locus for neuroticism and further investigate the association of MAGI1 and the polygenic association to a range of other psychiatric disorders that are phenotypically correlated with neuroticism.

Abstract

Not much is known about event apprehension, the earliest stage of information processing in elicited language production studies, using pictorial stimuli. A reason for our lack of knowledge on this process is that apprehension happens very rapidly (<350 ms after stimulus onset, Griffin & Bock 2000), making it difficult to measure the process directly. To broaden our understanding of apprehension, we analyzed landing positions and onset latencies of first fixations on visual stimuli (pictures of real-world events) given short stimulus presentation times, presupposing that the first fixation directly results from information processing during apprehension

Abstract

The acquisition of linguistic structures that require perspective-taking at the level of message generation is challenging. We investigate use of progressive aspect in L2 event encoding, using a sentence priming paradigm. We focus on Dutch, in which use of progressive aspect is optional. The progressive consists of a prepositional phrase (‘aan het,’ at-the), plus a verbal infinitive. We ask, to what extent L2 speakers, in comparison to native speakers, show priming effects in relation to form (prepositional phrase) or conceptual (progressive aspect) prime sentences. In native Dutch speakers we find a priming effect for the ‘progressive prime,’ compared to a ‘neutral prime’ (aspectually neutral event description). In L2 speakers this effect was absent. For the form prime, no priming effects were obtained in native speakers, rather, we find evidence for a partial blocking effect in L2 speakers. Results suggest that the strength of the link between concept and form of progressive aspect differs in native and L2 speakers. Specific factors contributed to the L2 findings, e.g., level of L2 proficiency and degree of L2 exposure. We conclude that (1) the conceptual basis of grammatical aspect can be primed in native speakers, and (2) in L2 speakers, access to conceptual information is less automatized.

Abstract

Gricean pragmatics has often been criticised for being implausible from a psychological point of view. This line of criticism is never backed up by empirical evidence, but more importantly, it ignores the fact that Grice never meant to advance a processing theory, in the first place. Taking our lead from Marr (1982), we distinguish between two levels of explanation: at the W-level, we are concerned with what agents do and why; at the H-level, we ask how agents do whatever it is they do. Whereas pragmatics is pitched at the W-level, processing theories are at the H-level. This is not to say that pragmatics has no implications for psychology at all, but it is to say that its implications are less direct than is often supposed.

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.