Publications

Displaying 61 - 80 of 7372
  • Bergelson*, E., Casillas*, M., Soderstrom, M., Seidl, A., Warlaumont, A. S., & Amatuni, A. (2019). What Do North American Babies Hear? A large-scale cross-corpus analysis. Developmental Science, 22(1): e12724. doi:10.1111/desc.12724.

    Abstract

    - * indicates joint first authorship - Abstract: A range of demographic variables influence how much speech young children hear. However, because studies have used vastly different sampling methods, quantitative comparison of interlocking demographic effects has been nearly impossible, across or within studies. We harnessed a unique collection of existing naturalistic, day-long recordings from 61 homes across four North American cities to examine language input as a function of age, gender, and maternal education. We analyzed adult speech heard by 3- to 20-month-olds who wore audio recorders for an entire day. We annotated speaker gender and speech register (child-directed or adult-directed) for 10,861 utterances from female and male adults in these recordings. Examining age, gender, and maternal education collectively in this ecologically-valid dataset, we find several key results. First, the speaker gender imbalance in the input is striking: children heard 2--3x more speech from females than males. Second, children in higher-maternal-education homes heard more child-directed speech than those in lower-maternal education homes. Finally, our analyses revealed a previously unreported effect: the proportion of child-directed speech in the input increases with age, due to a decrease in adult-directed speech with age. This large-scale analysis is an important step forward in collectively examining demographic variables that influence early development, made possible by pooled, comparable, day-long recordings of children's language environments. The audio recordings, annotations, and annotation software are readily available for re-use and re-analysis by other researchers.

    Supplementary material

    desc12724-sup-0001-supinfo.pdf
  • Blasi, D. E., Moran, S., Moisik, S. R., Widmer, P., Dediu, D., & Bickel, B. (2019). Human sound systems are shaped by post-Neolithic changes in bite configuration. Science, 363(6432): eaav3218. doi:10.1126/science.aav3218.

    Abstract

    Linguistic diversity, now and in the past, is widely regarded to be independent of biological changes that took place after the emergence of Homo sapiens. We show converging evidence from paleoanthropology, speech biomechanics, ethnography, and historical linguistics that labiodental sounds (such as “f” and “v”) were innovated after the Neolithic. Changes in diet attributable to food-processing technologies modified the human bite from an edge-to-edge configuration to one that preserves adolescent overbite and overjet into adulthood. This change favored the emergence and maintenance of labiodentals. Our findings suggest that language is shaped not only by the contingencies of its history, but also by culturally induced changes in human biology.

    Files private

    Request files
  • Bocanegra, B. R., Poletiek, F. H., Ftitache, B., & Clark, A. (2019). Intelligent problem-solvers externalize cognitive operations. Nature Human Behaviour, 3, 136-142. doi:10.1038/s41562-018-0509-y.

    Abstract

    Humans are nature’s most intelligent and prolific users of external props and aids (such as written texts, slide-rules and software packages). Here we introduce a method for investigating how people make active use of their task environment during problem-solving and apply this approach to the non-verbal Raven Advanced Progressive Matrices test for fluid intelligence. We designed a click-and-drag version of the Raven test in which participants could create different external spatial configurations while solving the puzzles. In our first study, we observed that the click-and-drag test was better than the conventional static test at predicting academic achievement of university students. This pattern of results was partially replicated in a novel sample. Importantly, environment-altering actions were clustered in between periods of apparent inactivity, suggesting that problem-solvers were delicately balancing the execution of internal and external cognitive operations. We observed a systematic relationship between this critical phasic temporal signature and improved test performance. Our approach is widely applicable and offers an opportunity to quantitatively assess a powerful, although understudied, feature of human intelligence: our ability to use external objects, props and aids to solve complex problems.
  • Bode, S., Feuerriegel, D., Bennett, D., & Alday, P. M. (2019). The Decision Decoding ToolBOX (DDTBOX) -- A Multivariate Pattern Analysis Toolbox for Event-Related Potentials. Neuroinformatics, 17(1), 27-42. doi:10.1007/s12021-018-9375-z.

    Abstract

    In recent years, neuroimaging research in cognitive neuroscience has increasingly used multivariate pattern analysis (MVPA) to investigate higher cognitive functions. Here we present DDTBOX, an open-source MVPA toolbox for electroencephalography (EEG) data. DDTBOX runs under MATLAB and is well integrated with the EEGLAB/ERPLAB and Fieldtrip toolboxes (Delorme and Makeig 2004; Lopez-Calderon and Luck 2014; Oostenveld et al. 2011). It trains support vector machines (SVMs) on patterns of event-related potential (ERP) amplitude data, following or preceding an event of interest, for classification or regression of experimental variables. These amplitude patterns can be extracted across space/electrodes (spatial decoding), time (temporal decoding), or both (spatiotemporal decoding). DDTBOX can also extract SVM feature weights, generate empirical chance distributions based on shuffled-labels decoding for group-level statistical testing, provide estimates of the prevalence of decodable information in the population, and perform a variety of corrections for multiple comparisons. It also includes plotting functions for single subject and group results. DDTBOX complements conventional analyses of ERP components, as subtle multivariate patterns can be detected that would be overlooked in standard analyses. It further allows for a more explorative search for information when no ERP component is known to be specifically linked to a cognitive process of interest. In summary, DDTBOX is an easy-to-use and open-source toolbox that allows for characterising the time-course of information related to various perceptual and cognitive processes. It can be applied to data from a large number of experimental paradigms and could therefore be a valuable tool for the neuroimaging community.
  • Bögels, S., Kendrick, K. H., & Levinson, S. C. (2019). Conversational expectations get revised as response latencies unfold. Language, Cognition and Neuroscience. Advance online publication. doi:10.1080/23273798.2019.1590609.

    Abstract

    The present study extends neuro-imaging into conversation through studying dialogue comprehension. Conversation entails rapid responses, with negative semiotics for delay. We explored how expectations about the valence of the forthcoming response develop during the silence before the response and whether negative responses have mainly cognitive or social-emotional consequences. EEG-participants listened to questions from a spontaneous spoken corpus, cross-spliced with short/long gaps and “yes”/“no” responses. Preceding contexts biased listeners to expect the eventual response, which was hypothesised to translate to expectations for a shorter or longer gap. “No” responses showed a trend towards an early positivity, suggesting socio-emotional consequences. Within the long gap, expecting a “yes” response led to an earlier negativity, as well as a trend towards stronger theta-oscillations, after 300 milliseconds. This suggests that listeners anticipate/predict “yes” responses to come earlier than “no” responses, showing strong sensitivities to timing, which presumably promote hastening the pace of verbal interaction.

    Supplementary material

    plcp_a_1590609_sm4630.docx
  • Bosker, H. R., Van Os, M., Does, R., & Van Bergen, G. (2019). Counting 'uhm's: how tracking the distribution of native and non-native disfluencies influences online language comprehension. Journal of Memory and Language, 106, 189-202. doi:10.1016/j.jml.2019.02.006.

    Abstract

    Disfluencies, like 'uh', have been shown to help listeners anticipate reference to low-frequency words. The associative account of this 'disfluency bias' proposes that listeners learn to associate disfluency with low-frequency referents based on prior exposure to non-arbitrary disfluency distributions (i.e., greater probability of low-frequency words after disfluencies). However, there is limited evidence for listeners actually tracking disfluency distributions online. The present experiments are the first to show that adult listeners, exposed to a typical or more atypical disfluency distribution (i.e., hearing a talker unexpectedly say uh before high-frequency words), flexibly adjust their predictive strategies to the disfluency distribution at hand (e.g., learn to predict high-frequency referents after disfluency). However, when listeners were presented with the same atypical disfluency distribution but produced by a non-native speaker, no adjustment was observed. This suggests pragmatic inferences can modulate distributional learning, revealing the flexibility of, and constraints on, distributional learning in incremental language comprehension.
  • Brehm, L., Jackson, C. N., & Miller, K. L. (2019). Speaker-specific processing of anomalous utterances. Quarterly Journal of Experimental Psychology, 72(4), 764-778. doi:10.1177/1747021818765547.

    Abstract

    Existing work shows that readers often interpret grammatical errors (e.g., The key to the cabinets *were shiny) and sentence-level blends (“without-blend”: Claudia left without her headphones *off) in a non-literal fashion, inferring that a more frequent or more canonical utterance was intended instead. This work examines how interlocutor identity affects the processing and interpretation of anomalous sentences. We presented anomalies in the context of “emails” attributed to various writers in a self-paced reading paradigm and used comprehension questions to probe how sentence interpretation changed based upon properties of the item and properties of the “speaker.” Experiment 1 compared standardised American English speakers to L2 English speakers; Experiment 2 compared the same standardised English speakers to speakers of a non-Standardised American English dialect. Agreement errors and without-blends both led to more non-literal responses than comparable canonical items. For agreement errors, more non-literal interpretations also occurred when sentences were attributed to speakers of Standardised American English than either non-Standardised group. These data suggest that understanding sentences relies on expectations and heuristics about which utterances are likely. These are based upon experience with language, with speaker-specific differences, and upon more general cognitive biases.

    Supplementary material

    Supplementary material
  • Brehm, L., Jackson, C. N., & Miller, K. L. (2019). Incremental interpretation in the first and second language. In M. Brown, & B. Dailey (Eds.), BUCLD 43: Proceedings of the 43rd annual Boston University Conference on Language Development (pp. 109-122). Sommerville, MA: Cascadilla Press.
  • Carrion Castillo, A., Van der Haegen, L., Tzourio-Mazoyer, N., Kavaklioglu, T., Badillo, S., Chavent, M., Saracco, J., Brysbaert, M., Fisher, S. E., Mazoyer, B., & Francks, C. (2019). Genome sequencing for rightward hemispheric language dominance. Genes, Brain and Behavior. Advance online publication. doi:10.1111/gbb.12572.

    Abstract

    Most people have left‐hemisphere dominance for various aspects of language processing, but only roughly 1% of the adult population has atypically reversed, rightward hemispheric language dominance (RHLD). The genetic‐developmental program that underlies leftward language laterality is unknown, as are the causes of atypical variation. We performed an exploratory whole‐genome‐sequencing study, with the hypothesis that strongly penetrant, rare genetic mutations might sometimes be involved in RHLD. This was by analogy with situs inversus of the visceral organs (left‐right mirror reversal of the heart, lungs and so on), which is sometimes due to monogenic mutations. The genomes of 33 subjects with RHLD were sequenced and analyzed with reference to large population‐genetic data sets, as well as 34 subjects (14 left‐handed) with typical language laterality. The sample was powered to detect rare, highly penetrant, monogenic effects if they would be present in at least 10 of the 33 RHLD cases and no controls, but no individual genes had mutations in more than five RHLD cases while being un‐mutated in controls. A hypothesis derived from invertebrate mechanisms of left‐right axis formation led to the detection of an increased mutation load, in RHLD subjects, within genes involved with the actin cytoskeleton. The latter finding offers a first, tentative insight into molecular genetic influences on hemispheric language dominance.

    Supplementary material

    gbb12572-sup-0001-AppendixS1.docx
  • Casillas, M., & Cristia, A. (2019). A step-by-step guide to collecting and analyzing long-format speech environment (LFSE) recordings. Collabra, 5(1): 24. doi:10.1525/collabra.209.

    Abstract

    Recent years have seen rapid technological development of devices that can record communicative behavior as participants go about daily life. This paper is intended as an end-to-end methodological guidebook for potential users of these technologies, including researchers who want to study children’s or adults’ communicative behavior in everyday contexts. We explain how long-format speech environment (LFSE) recordings provide a unique view on language use and how they can be used to complement other measures at the individual and group level. We aim to help potential users of these technologies make informed decisions regarding research design, hardware, software, and archiving. We also provide information regarding ethics and implementation, issues that are difficult to navigate for those new to this technology, and on which little or no resources are available. This guidebook offers a concise summary of information for new users and points to sources of more detailed information for more advanced users. Links to discussion groups and community-augmented databases are also provided to help readers stay up-to-date on the latest developments.
  • Castells-Nobau, A., Eidhof, I., Fenckova, M., Brenman-Suttner, D. B., Scheffer-de Gooyert, J. M., Christine, S., Schellevis, R. L., Van der Laan, K., Quentin, C., Van Ninhuijs, L., Hofmann, F., Ejsmont, R., Fisher, S. E., Kramer, J. M., Sigrist, S. J., Simon, A. F., & Schenck, A. (2019). Conserved regulation of neurodevelopmental processes and behavior by FoxP in Drosophila. PLoS One, 14(2): e211652. doi:10.1371/journal.pone.0211652.

    Abstract

    FOXP proteins form a subfamily of evolutionarily conserved transcription factors involved in the development and functioning of several tissues, including the central nervous system. In humans, mutations in FOXP1 and FOXP2 have been implicated in cognitive deficits including intellectual disability and speech disorders. Drosophila exhibits a single ortholog, called FoxP, but due to a lack of characterized mutants, our understanding of the gene remains poor. Here we show that the dimerization property required for mammalian FOXP function is conserved in Drosophila. In flies, FoxP is enriched in the adult brain, showing strong expression in ~1000 neurons of cholinergic, glutamatergic and GABAergic nature. We generate Drosophila loss-of-function mutants and UAS-FoxP transgenic lines for ectopic expression, and use them to characterize FoxP function in the nervous system. At the cellular level, we demonstrate that Drosophila FoxP is required in larvae for synaptic morphogenesis at axonal terminals of the neuromuscular junction and for dendrite development of dorsal multidendritic sensory neurons. In the developing brain, we find that FoxP plays important roles in α-lobe mushroom body formation. Finally, at a behavioral level, we show that Drosophila FoxP is important for locomotion, habituation learning and social space behavior of adult flies. Our work shows that Drosophila FoxP is important for regulating several neurodevelopmental processes and behaviors that are related to human disease or vertebrate disease model phenotypes. This suggests a high degree of functional conservation with vertebrate FOXP orthologues and established flies as a model system for understanding FOXP related pathologies.
  • Cattani, A., Floccia, C., Kidd, E., Pettenati, P., Onofrio, D., & Volterra, V. (2019). Gestures and words in naming: Evidence from crosslinguistic and crosscultural comparison. Language Learning. Advance online publication. doi:10.1111/lang.12346.

    Abstract

    We report on an analysis of spontaneous gesture production in 2‐year‐old children who come from three countries (Italy, United Kingdom, Australia) and who speak two languages (Italian, English), in an attempt to tease apart the influence of language and culture when comparing children from different cultural and linguistic environments. Eighty‐seven monolingual children aged 24–30 months completed an experimental task measuring their comprehension and production of nouns and predicates. The Italian children scored significantly higher than the other groups on all lexical measures. With regard to gestures, British children produced significantly fewer pointing and speech combinations compared to Italian and Australian children, who did not differ from each other. In contrast, Italian children produced significantly more representational gestures than the other two groups. We conclude that spoken language development is primarily influenced by the input language over gesture production, whereas the combination of cultural and language environments affects gesture production.
  • Chang, Y.-N., & Monaghan, P. (2019). Quantity and diversity of preliteracy language exposure both affect literacy development: Evidence from a computational model of reading. Scientific Studies of Reading, 23(3), 235-253. doi:10.1080/10888438.2018.1529177.

    Abstract

    Diversity of vocabulary knowledge and quantity of language exposure prior to literacy are key predictors of reading development. However, diversity and quantity of exposure are difficult to distinguish in behavioural studies, and so the causal relations with literacy are not well known. We tested these relations by training a connectionist triangle model of reading that learned to map between semantic; phonological; and, later, orthographic forms of words. The model first learned to map between phonology and semantics, where we manipulated the quantity and diversity of this preliterate language experience. Then the model learned to read. Both diversity and quantity of exposure had unique effects on reading performance, with larger effects for written word comprehension than for reading fluency. The results further showed that quantity of preliteracy language exposure was beneficial only when this was to a varied vocabulary and could be an impediment when exposed to a limited vocabulary.
  • Chang, Y.-N., Monaghan, P., & Welbourne, S. (2019). A computational model of reading across development: Effects of literacy onset on language processing. Journal of Memory and Language. Advance online publication, 108: 104025. doi:10.1016/j.jml.2019.05.003.

    Abstract

    Cognitive development is shaped by interactions between cognitive architecture and environmental experiences of the growing brain. We examined the extent to which this interaction during development could be observed in language processing. We focused on age of acquisition (AoA) effects in reading, where early-learned words tend to be processed more quickly and accurately relative to later-learned words. We implemented a computational model including representations of print, sound and meaning of words, with training based on children’s gradual exposure to language. The model produced AoA effects in reading and lexical decision, replicating the larger effects of AoA when semantic representations are involved. Further, the model predicted that AoA would relate to differing use of the reading system, with words acquired before versus after literacy onset with distinctive accessing of meaning and sound representations. An analysis of behaviour from the English Lexicon project was consistent with the predictions: Words acquired before literacy are more likely to access meaning via sound, showing a suppressed AoA effect, whereas words acquired after literacy rely more on direct print to meaning mappings, showing an exaggerated AoA effect. The reading system reveals vestigial traces of acquisition reflected in differing use of word representations during reading.
  • Comasco, E., Schijven, D., de Maeyer, H., Vrettou, M., Nylander, I., Sundström-Poromaa, I., & Olivier, J. D. A. (2019). Constitutive serotonin transporter reduction resembles maternal separation with regard to stress-related gene expression. ACS Chemical Neuroscience. Advance online publication. doi:10.1021/acschemneuro.8b00595.

    Abstract

    Interactive effects between allelic variants of the serotonin transporter (5-HTT) promoter-linked polymorphic region (5-HTTLPR) and stressors on depression symptoms have been documented, as well as questioned, by meta-analyses. Translational models of constitutive 5-htt reduction and experimentally controlled stressors often led to inconsistent behavioral and molecular findings and often did not include females. The present study sought to investigate the effect of 5-htt genotype, maternal separation, and sex on the expression of stress-related candidate genes in the rat hippocampus and frontal cortex. The mRNA expression levels of Avp, Pomc, Crh, Crhbp, Crhr1, Bdnf, Ntrk2, Maoa, Maob, and Comt were assessed in the hippocampus and frontal cortex of 5-htt ± and 5-htt +/+ male and female adult rats exposed, or not, to daily maternal separation for 180 min during the first 2 postnatal weeks. Gene- and brain region-dependent, but sex-independent, interactions between 5-htt genotype and maternal separation were found. Gene expression levels were higher in 5-htt +/+ rats not exposed to maternal separation compared with the other experimental groups. Maternal separation and 5-htt +/− genotype did not yield additive effects on gene expression. Correlative relationships, mainly positive, were observed within, but not across, brain regions in all groups except in non-maternally separated 5-htt +/+ rats. Gene expression patterns in the hippocampus and frontal cortex of rats exposed to maternal separation resembled the ones observed in rats with reduced 5-htt expression regardless of sex. These results suggest that floor effects of 5-htt reduction and maternal separation might explain inconsistent findings in humans and rodents
  • Croijmans, I., Speed, L., Arshamian, A., & Majid, A. (2019). Measuring the multisensory imagery of wine: The Vividness of Wine Imagery Questionnaire. Multisensory Research, 32(3), 179-195. doi:10.1163/22134808-20191340.

    Abstract

    When we imagine objects or events, we often engage in multisensory mental imagery. Yet, investigations of mental imagery have typically focused on only one sensory modality — vision. One reason for this is that the most common tool for the measurement of imagery, the questionnaire, has been restricted to unimodal ratings of the object. We present a new mental imagery questionnaire that measures multisensory imagery. Specifically, the newly developed Vividness of Wine Imagery Questionnaire (VWIQ) measures mental imagery of wine in the visual, olfactory, and gustatory modalities. Wine is an ideal domain to explore multisensory imagery because wine drinking is a multisensory experience, it involves the neglected chemical senses (smell and taste), and provides the opportunity to explore the effect of experience and expertise on imagery (from wine novices to experts). The VWIQ questionnaire showed high internal consistency and reliability, and correlated with other validated measures of imagery. Overall, the VWIQ may serve as a useful tool to explore mental imagery for researchers, as well as individuals in the wine industry during sommelier training and evaluation of wine professionals.
  • Cuskley, C., Dingemanse, M., Kirby, S., & van Leeuwen, T. M. (2019). Cross-modal associations and synaesthesia: Categorical perception and structure in vowel-colour mappings in a large online sample. Behaviour Research Methods. Advance online publication. doi:10.3758/s13428-019-01203-7.

    Abstract

    We report associations between vowel sounds, graphemes, and colours collected online from over 1000 Dutch speakers. We provide open materials including a Python implementation of the structure measure, and code for a single page web application to run simple cross-modal tasks. We also provide a full dataset of colour-vowel associations from 1164 participants, including over 200 synaesthetes identified using consistency measures. Our analysis reveals salient patterns in cross-modal associations, and introduces a novel measure of isomorphism in cross-modal mappings. We find that while acoustic features of vowels significantly predict certain mappings (replicating prior work), both vowel phoneme category and grapheme category are even better predictors of colour choice. Phoneme category is the best predictor of colour choice overall, pointing to the importance of phonological representations in addition to acoustic cues. Generally, high/front vowels are lighter, more green, and more yellow than low/back vowels. Synaesthetes respond more strongly on some dimensions, choosing lighter and more yellow colours for high and mid front vowels than non-synaesthetes. We also present a novel measure of cross-modal mappings adapted from ecology, which uses a simulated distribution of mappings to measure the extent to which participants' actual mappings are structured isomorphically across modalities. Synaesthetes have mappings that tend to be more structured than non-synaesthetes, and more consistent colour choices across trials correlate with higher structure scores. Nevertheless, the large majority (~70%) of participants produce structured mappings, indicating that the capacity to make isomorphically structured mappings across distinct modalities is shared to a large extent, even if the exact nature of mappings varies across individuals. Overall, this novel structure measure suggests a distribution of structured cross-modal association in the population, with synaesthetes on one extreme and participants with unstructured associations on the other.
  • Dediu, D., & Moisik, S. R. (2019). Pushes and pulls from below: Anatomical variation, articulation and sound change. Glossa: A Journal of General Linguistics, 4(1): 7. doi:10.5334/gjgl.646.

    Abstract

    This paper argues that inter-individual and inter-group variation in language acquisition, perception, processing and production, rooted in our biology, may play a largely neglected role in sound change. We begin by discussing the patterning of these differences, highlighting those related to vocal tract anatomy with a foundation in genetics and development. We use our ArtiVarK database, a large multi-ethnic sample comprising 3D intraoral optical scans, as well as structural, static and real-time MRI scans of vocal tract anatomy and speech articulation, to quantify the articulatory strategies used to produce the North American English /r/ and to statistically show that anatomical factors seem to influence these articulatory strategies. Building on work showing that these alternative articulatory strategies may have indirect coarticulatory effects, we propose two models for how biases due to variation in vocal tract anatomy may affect sound change. The first involves direct overt acoustic effects of such biases that are then reinterpreted by the hearers, while the second is based on indirect coarticulatory phenomena generated by acoustically covert biases that produce overt “at-a-distance” acoustic effects. This view implies that speaker communities might be “poised” for change because they always contain pools of “standing variation” of such biased speakers, and when factors such as the frequency of the biased speakers in the community, their positions in the communicative network or the topology of the network itself change, sound change may rapidly follow as a self-reinforcing network-level phenomenon, akin to a phase transition. Thus, inter-speaker variation in structured and dynamic communicative networks may couple the initiation and actuation of sound change.
  • Demontis, D., Walters, R. K., Martin, J., Mattheisen, M., Als, T. D., Agerbo, E., Baldursson, G., Belliveau, R., Bybjerg-Grauholm, J., Bækvad-Hansen, M., Cerrato, F., Chambert, K., Churchhouse, C., Dumont, A., Eriksson, N., Gandal, M., Goldstein, J. I., Grasby, K. L., Grove, J., Gudmundsson, O. O., Hansen, C. S., Hauberg, M. E., Hollegaard, M. V., Howrigan, D. P., Huang, H., Maller, J. B., Martin, A. R., Martin, N. G., Moran, J., Pallesen, J., Palmer, D. S., Pedersen, C. B., Pedersen, M. G., Poterba, T., Poulsen, J. B., Ripke, S., Robinson, E. B., Satterstrom, F. K., Stefansson, H., Stevens, C., Turley, P., Walters, G. B., Won, H., Wright, M. J., ADHD Working Group of the Psychiatric Genomics Consortium (PGC), EArly Genetics and Lifecourse Epidemiology (EAGLE) Consortium, 23andme Research Team, Andreassen, O. A., Asherson, P., Burton, C. L., Boomsma, D. I., Cormand, B., Dalsgaard, S., Franke, B., Gelernter, J., Geschwind, D., Hakonarson, H., Haavik, J., Kranzler, H. R., Kuntsi, J., Langley, K., Lesch, K.-P., Middeldorp, C., Reif, A., Rohde, L. A., Roussos, P., Schachar, R., Sklar, P., Sonuga-Barke, E. J. S., Sullivan, P. F., Thapar, A., Tung, J. Y., Waldman, I. D., Medland, S. E., Stefansson, K., Nordentoft, M., Hougaard, D. M., Werge, T., Mors, O., Mortensen, P. B., Daly, M. J., Faraone, S. V., Børglum, A. D., & Neale, B. (2019). Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder. Nature Genetics, 51, 63-75. doi:10.1038/s41588-018-0269-7.

    Abstract

    Attention deficit/hyperactivity disorder (ADHD) is a highly heritable childhood behavioral disorder affecting 5% of children and 2.5% of adults. Common genetic variants contribute substantially to ADHD susceptibility, but no variants have been robustly associated with ADHD. We report a genome-wide association meta-analysis of 20,183 individuals diagnosed with ADHD and 35,191 controls that identifies variants surpassing genome-wide significance in 12 independent loci, finding important new information about the underlying biology of ADHD. Associations are enriched in evolutionarily constrained genomic regions and loss-of-function intolerant genes and around brain-expressed regulatory marks. Analyses of three replication studies: a cohort of individuals diagnosed with ADHD, a self-reported ADHD sample and a meta-analysis of quantitative measures of ADHD symptoms in the population, support these findings while highlighting study-specific differences on genetic overlap with educational attainment. Strong concordance with GWAS of quantitative population measures of ADHD symptoms supports that clinical diagnosis of ADHD is an extreme expression of continuous heritable traits.
  • Devanna, P., Dediu, D., & Vernes, S. C. (2019). The Genetics of Language: From complex genes to complex communication. In S.-A. Rueschemeyer, & M. G. Gaskell (Eds.), The Oxford Handbook of Psycholinguistics (2nd ed., pp. 865-898). Oxford: Oxford University Press.

    Abstract

    This chapter discusses the genetic foundations of the human capacity for language. It reviews the molecular structure of the genome and the complex molecular mechanisms that allow genetic information to influence multiple levels of biology. It goes on to describe the active regulation of genes and their formation of complex genetic pathways that in turn control the cellular environment and function. At each of these levels, examples of genes and genetic variants that may influence the human capacity for language are given. Finally, it discusses the value of using animal models to understand the genetic underpinnings of speech and language. From this chapter will emerge the complexity of the genome in action and the multidisciplinary efforts that are currently made to bridge the gap between genetics and language.

Share this page