Publications

Displaying 101 - 200 of 895
  • Cappuccio, M. L., Chu, M., & Kita, S. (2013). Pointing as an instrumental gesture: Gaze representation through indication. Humana.Mente: Journal of Philosophical Studies, 24, 125-149.

    Abstract

    We call those gestures “instrumental” that can enhance certain thinking processes of an agent by offering him representational models of his actions in a virtual space of imaginary performative possibilities. We argue that pointing is an instrumental gesture in that it represents geometrical information on one’s own gaze direction (i.e., a spatial model for attentional/ocular fixation/orientation), and provides a ritualized template for initiating gaze coordination and joint attention. We counter two possible objections, asserting respectively that the representational content of pointing is not constitutive, but derived from language, and that pointing directly solicits gaze coordination, without representing it. We consider two studies suggesting that attention and spatial perception are actively modified by one’s own pointing activity: the first study shows that pointing gestures help children link sets of objects to their corresponding number words; the second, that adults are faster and more accurate in counting when they point.
  • Capredon, M., Brucato, N., Tonasso, L., Choesmel-Cadamuro, V., Ricaut, F.-X., Razafindrazaka, H., Ratolojanahary, M. A., Randriamarolaza, L.-P., Champion, B., & Dugoujon, J.-M. (2013). Tracing Arab-Islamic Inheritance in Madagascar: Study of the Y-chromosome and Mitochondrial DNA in the Antemoro. PLoS One, 8(11): e80932. doi:10.1371/journal.pone.0080932.

    Abstract

    Madagascar is located at the crossroads of the Asian and African worlds and is therefore of particular interest for studies on human population migration. Within the large human diversity of the Great Island, we focused our study on a particular ethnic group, the Antemoro. Their culture presents an important Arab-Islamic influence, but the question of an Arab biological inheritance remains unresolved. We analyzed paternal (n=129) and maternal (n=135) lineages of this ethnic group. Although the majority of Antemoro genetic ancestry comes from sub-Saharan African and Southeast Asian gene pools, we observed in their paternal lineages two specific haplogroups (J1 and T1) linked to Middle Eastern origins. This inheritance was restricted to some Antemoro sub-groups. Statistical analyses tended to confirm significant Middle Eastern genetic contribution. This study gives a new perspective to the large human genetic diversity in Madagascar
  • Carota, F., Bozic, M., & Marslen-Wilson, W. (2016). Decompositional Representation of Morphological Complexity: Multivariate fMRI Evidence from Italian. Journal of Cognitive Neuroscience, 28(12), 1878-1896. doi:10.1162/jocn\_a\_01009.

    Abstract

    Derivational morphology is a cross-linguistically dominant mechanism for word formation, combining existing words with derivational affixes to create new word forms. However, the neurocognitive mechanisms underlying the representation and processing of such forms remain unclear. Recent cross-linguistic neuroimaging research suggests that derived words are stored and accessed as whole forms, without engaging the left-hemisphere perisylvian network associated with combinatorial processing of syntactically and inflectionally complex forms. Using fMRI with a “simple listening” no-task procedure, we reexamine these suggestions in the context of the root-based combinatorially rich Italian lexicon to clarify the role of semantic transparency (between the derived form and its stem) and affix productivity in determining whether derived forms are decompositionally represented and which neural systems are involved. Combined univariate and multivariate analyses reveal a key role for semantic transparency, modulated by affix productivity. Opaque forms show strong cohort competition effects, especially for words with nonproductive suffixes (ventura, “destiny”). The bilateral frontotemporal activity associated with these effects indicates that opaque derived words are processed as whole forms in the bihemispheric language system. Semantically transparent words with productive affixes (libreria, “bookshop”) showed no effects of lexical competition, suggesting morphologically structured co-representation of these derived forms and their stems, whereas transparent forms with nonproductive affixes (pineta, pine forest) show intermediate effects. Further multivariate analyses of the transparent derived forms revealed affix productivity effects selectively involving left inferior frontal regions, suggesting that the combinatorial and decompositional processes triggered by such forms can vary significantly across languages.
  • Carrion Castillo, A., Pepe, A., Kong, X., Fisher, S. E., Mazoyer, B., Tzourio-Mazoyer, N., Crivello, F., & Francks, C. (2020). Genetic effects on planum temporale asymmetry and their limited relevance to neurodevelopmental disorders, intelligence or educational attainment. Cortex, 124, 137-153. doi:10.1016/j.cortex.2019.11.006.

    Abstract

    Previous studies have suggested that altered asymmetry of the planum temporale (PT) is associated with neurodevelopmental disorders, including dyslexia, schizophrenia, and autism. Shared genetic factors have been suggested to link PT asymmetry to these disorders. In a dataset of unrelated subjects from the general population (UK Biobank, N= 18,057), we found that PT volume asymmetry had a significant heritability of roughly 14%. In genome-wide association analysis, two loci were significantly associated with PT asymmetry, including a coding polymorphism within the gene ITIH5 that is predicted to affect the protein’s function and to be deleterious (rs41298373, P=2.01×10−15), and a locus that affects the expression of the genes BOK and DTYMK (rs7420166, P=7.54×10-10). DTYMK showed left-right asymmetry of mRNA expression in post mortem PT tissue. Cortex-wide mapping of these SNP effects revealed influences on asymmetry that went somewhat beyond the PT. Using publicly available genome-wide association statistics from large-scale studies, we saw no significant genetic correlations of PT asymmetry with autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, educational attainment or intelligence. Of the top two individual loci associated with PT asymmetry, rs41298373 showed a tentative association with intelligence (unadjusted P=0.025), while the locus at BOK/DTYMK showed tentative association with educational attainment (unadjusted Ps<0.05). These findings provide novel insights into the genetic contributions to human brain asymmetry, but do not support a substantial polygenic association of PT asymmetry with cognitive variation and mental disorders, as far as can be discerned with current sample sizes.

    Additional information

    Supplementary data
  • Carrion Castillo, A., Franke, B., & Fisher, S. E. (2013). Molecular genetics of dyslexia: An overview. Dyslexia, 19(4), 214-240. doi:10.1002/dys.1464.

    Abstract

    Dyslexia is a highly heritable learning disorder with a complex underlying genetic architecture. Over the past decade, researchers have pinpointed a number of candidate genes that may contribute to dyslexia susceptibility. Here, we provide an overview of the state of the art, describing how studies have moved from mapping potential risk loci, through identification of associated gene variants, to characterization of gene function in cellular and animal model systems. Work thus far has highlighted some intriguing mechanistic pathways, such as neuronal migration, axon guidance, and ciliary biology, but it is clear that we still have much to learn about the molecular networks that are involved. We end the review by highlighting the past, present, and future contributions of the Dutch Dyslexia Programme to studies of genetic factors. In particular, we emphasize the importance of relating genetic information to intermediate neurobiological measures, as well as the value of incorporating longitudinal and developmental data into molecular designs
  • Carrion Castillo, A., van Bergen, E., Vino, A., van Zuijen, T., de Jong, P. F., Francks, C., & Fisher, S. E. (2016). Evaluation of results from genome-wide studies of language and reading in a novel independent dataset. Genes, Brain and Behavior, 15(6), 531-541. doi:10.1111/gbb.12299.

    Abstract

    Recent genome wide association scans (GWAS) for reading and language abilities have pin-pointed promising new candidate loci. However, the potential contributions of these loci remain to be validated. In the present study, we tested 17 of the most significantly associated single nucleotide polymorphisms (SNPs) from these GWAS studies (p < 10−6 in the original studies) in a new independent population dataset from the Netherlands: known as FIOLA (Familial Influences On Literacy Abilities). This dataset comprised 483 children from 307 nuclear families, plus 505 adults (including parents of participating children), and provided adequate statistical power to detect the effects that were previously reported. The following measures of reading and language performance were collected: word reading fluency, nonword reading fluency, phonological awareness, and rapid automatized naming. Two SNPs (rs12636438, rs7187223) were associated with performance in multivariate and univariate testing, but these did not remain significant after correction for multiple testing. Another SNP (rs482700) was only nominally associated in the multivariate test. For the rest of the SNPs we did not find supportive evidence of association. The findings may reflect differences between our study and the previous investigations in respects such as the language of testing, the exact tests used, and the recruitment criteria. Alternatively, most of the prior reported associations may have been false positives. A larger scale GWAS meta-analysis than those previously performed will likely be required to obtain robust insights into the genomic architecture underlying reading and language.
  • Carrol, G., & Conklin, K. (2020). Is all formulaic language created equal? Unpacking the processing advantage for different types of formulaic sequences. Language and Speech, 63(1), 95-122. doi:10.1177/0023830918823230.

    Abstract

    Research into recurrent, highly conventionalized “formulaic” sequences has shown a processing advantage compared to “novel” (non-formulaic) language. Studies of individual types of formulaic sequence often acknowledge the contribution of specific factors, but little work exists to compare the processing of different types of phrases with fundamentally different properties. We use eye-tracking to compare the processing of three types of formulaic phrases—idioms, binomials, and collocations—and consider whether overall frequency can explain the advantage for all three, relative to control phrases. Results show an advantage, as evidenced through shorter reading times, for all three types. While overall phrase frequency contributes much of the processing advantage, different types of phrase do show additional effects according to the specific properties that are relevant to each type: frequency, familiarity, and decomposability for idioms; predictability and semantic association for binomials; and mutual information for collocations. We discuss how the results contribute to our understanding of the representation and processing of multiword lexical units more broadly.

    Additional information

    Supplementary materials
  • Casasanto, D., Casasanto, L. S., Gijssels, T., & Hagoort, P. (2020). The Reverse Chameleon Effect: Negative social consequences of anatomical mimicry. Frontiers in Psychology, 11: 1876. doi:10.3389/fpsyg.2020.01876.

    Abstract

    Bodily mimicry often makes the mimickee have more positive feelings about the mimicker. Yet, little is known about the causes of mimicry’s social effects. When people mimic each other’s bodily movements face to face, they can either adopt a mirrorwise perspective (moving in the same absolute direction) or an anatomical perspective (moving in the same direction relative to their own bodies). Mirrorwise mimicry maximizes visuo-spatial similarity between the mimicker and mimickee, whereas anatomical mimicry maximizes the similarity in the states of their motor systems. To compare the social consequences of visuo-spatial and motoric similarity, we asked participants to converse with an embodied virtual agent (VIRTUO), who mimicked their head movements either mirrorwise, anatomically, or not at all. Compared to participants who were not mimicked, those who were mimicked mirrorwise tended to rate VIRTUO more positively, but those who were mimicked anatomically rated him more negatively. During face-to-face conversation, mirrorwise and anatomical mimicry have opposite social consequences. Results suggest that visuo-spatial similarity between mimicker and mimickee, not similarity in motor system activity, gives rise to the positive social effects of bodily mimicry.
  • Casillas, M., Brown, P., & Levinson, S. C. (2020). Early language experience in a Tseltal Mayan village. Child Development, 91(5), 1819-1835. doi:10.1111/cdev.13349.

    Abstract

    Daylong at-home audio recordings from 10 Tseltal Mayan children (0;2–3;0; Southern Mexico) were analyzed for how often children engaged in verbal interaction with others and whether their speech environment changed with age, time of day, household size, and number of speakers present. Children were infrequently directly spoken to, with most directed speech coming from adults, and no increase with age. Most directed speech came in the mornings, and interactional peaks contained nearly four times the baseline rate of directed speech. Coarse indicators of children's language development (babbling, first words, first word combinations) suggest that Tseltal children manage to extract the linguistic information they need despite minimal directed speech. Multiple proposals for how they might do so are discussed.

    Additional information

    Tseltal-CLE-SuppMat.pdf
  • Casillas, M., Bobb, S. C., & Clark, E. V. (2016). Turn taking, timing, and planning in early language acquisition. Journal of Child Language, 43, 1310-1337. doi:10.1017/S0305000915000689.

    Abstract

    Young children answer questions with longer delays than adults do, and they don't reach typical adult response times until several years later. We hypothesized that this prolonged pattern of delay in children's timing results from competing demands: to give an answer, children must understand a question while simultaneously planning and initiating their response. Even as children get older and more efficient in this process, the demands on them increase because their verbal responses become more complex. We analyzed conversational question-answer sequences between caregivers and their children from ages 1;8 to 3;5, finding that children (1) initiate simple answers more quickly than complex ones, (2) initiate simple answers quickly from an early age, and (3) initiate complex answers more quickly as they grow older. Our results suggest that children aim to respond quickly from the start, improving on earlier-acquired answer types while they begin to practice later-acquired, slower ones.

    Additional information

    S0305000915000689sup001.docx
  • Castroflorio, E., Den Hoed, J., Svistunova, D., Finelli, M. J., Cebrian-Serrano, A., Corrochano, S., Bassett, A. R., Davies, B., & Oliver, P. L. (2020). The Ncoa7 locus regulates V-ATPase formation and function, neurodevelopment and behaviour. Cellular and Molecular Life Sciences. doi:10.1007/s00018-020-03721-6.

    Abstract

    Members of the Tre2/Bub2/Cdc16 (TBC), lysin motif (LysM), domain catalytic (TLDc) protein family are associated with multiple neurodevelopmental disorders, although their exact roles in disease remain unclear. For example, nuclear receptor coactivator 7 (NCOA7) has been associated with autism, although almost nothing is known regarding the mode-of-action of this TLDc protein in the nervous system. Here we investigated the molecular function of NCOA7 in neurons and generated a novel mouse model to determine the consequences of deleting this locus in vivo. We show that NCOA7 interacts with the cytoplasmic domain of the vacuolar (V)-ATPase in the brain and demonstrate that this protein is required for normal assembly and activity of this critical proton pump. Neurons lacking Ncoa7 exhibit altered development alongside defective lysosomal formation and function; accordingly, Ncoa7 deletion animals exhibited abnormal neuronal patterning defects and a reduced expression of lysosomal markers. Furthermore, behavioural assessment revealed anxiety and social defects in mice lacking Ncoa7. In summary, we demonstrate that NCOA7 is an important V-ATPase regulatory protein in the brain, modulating lysosomal function, neuronal connectivity and behaviour; thus our study reveals a molecular mechanism controlling endolysosomal homeostasis that is essential for neurodevelopment.
  • Chabout, J., Sarkar, A., Patel, S., Radden, T., Dunson, D., Fisher, S. E., & Jarvis, E. (2016). A Foxp2 mutation implicated in human speech deficits alters sequencing of ultrasonic vocalizations in adult male mice. Frontiers in Behavioral Neuroscience, 10: 197. doi:10.3389/fnbeh.2016.00197.

    Abstract

    Development of proficient spoken language skills is disrupted by mutations of the FOXP2 transcription factor. A heterozygous missense mutation in the KE family causes speech apraxia, involving difficulty producing words with complex learned sequences of syllables. Manipulations in songbirds have helped to elucidate the role of this gene in vocal learning, but findings in non-human mammals have been limited or inconclusive. Here we performed a systematic study of ultrasonic vocalizations (USVs) of adult male mice carrying the KE family mutation. Using novel statistical tools, we found that Foxp2 heterozygous mice did not have detectable changes in USV syllable acoustic structure, but produced shorter sequences and did not shift to more complex syntax in social contexts where wildtype animals did. Heterozygous mice also displayed a shift in the position of their rudimentary laryngeal motor cortex layer-5 neurons. Our findings indicate that although mouse USVs are mostly innate, the underlying contributions of FoxP2 to sequencing of vocalizations are conserved with humans.
  • Chan, R. W., Alday, P. M., Zou-Williams, L., Lushington, K., Schlesewsky, M., Bornkessel-Schlesewsky, I., & Immink, M. A. (2020). Focused-attention meditation increases cognitive control during motor sequence performance: Evidence from the N2 cortical evoked potential. Behavioural Brain Research, 384: 112536. doi:10.1016/j.bbr.2020.112536.

    Abstract

    Previous work found that single-session focused attention meditation (FAM) enhanced motor sequence learning through increased cognitive control as a mechanistic action, although electrophysiological correlates of sequence learning performance following FAM were not investigated. We measured the persistent frontal N2 event-related potential (ERP) that is closely related to cognitive control processes and its ability to predict behavioural measures. Twenty-nine participants were randomised to one of three conditions reflecting the level of FAM experienced prior to a serial reaction time task (SRTT): 21 sessions of FAM (FAM21, N = 12), a single FAM session (FAM1, N = 9) or no preceding FAM control (Control, N = 8). Continuous 64-channel EEG were recorded during SRTT and N2 amplitudes for correct trials were extracted. Component amplitude, regions of interests, and behavioural outcomes were compared using mixed effects regression models between groups. FAM21 exhibited faster reaction time performances in majority of the learning blocks compared to FAM1 and Control. FAM21 also demonstrated a significantly more pronounced N2 over majority of anterior and central regions of interests during SRTT compared to the other groups. When N2 amplitudes were modelled against general learning performance, FAM21 showed the greatest rate of amplitude decline over anterior and central regions. The combined results suggest that FAM training provided greater cognitive control enhancement for improved general performance, and less pronounced effects for sequence-specific learning performance compared to the other groups. Importantly, FAM training facilitates dynamic modulation of cognitive control: lower levels of general learning performance was supported by greater levels of activation, whilst higher levels of general learning exhibited less activation.
  • Chang, F., Kidd, E., & Rowland, C. F. (2013). Prediction in processing is a by-product of language learning [Commentary on Pickering & Garrod: An integrated theory of language production and comprehension]. Behavioral and Brain Sciences, 36(4), 350-351. doi:10.1017/S0140525X12001495.

    Abstract

    Both children and adults predict the content of upcoming language, suggesting that prediction is useful for learning as well as processing. We present an alternative model which can explain prediction behaviour as a by-product of language learning. We suggest that a consideration of language acquisition places important constraints on Pickering & Garrod's (P&G's) theory.
  • Choi, S., McDonough, L., Bowerman, M., & Mandler, J. M. (1999). Early sensitivity to language-specific spatial categories in English and Korean. Cognitive Development, 14, 241-268. doi:10.1016/S0885-2014(99)00004-0.

    Abstract

    This study investigates young children’s comprehension of spatial terms in two languages that categorize space strikingly differently. English makes a distinction between actions resulting in containment (put in) versus support or surface attachment (put on), while Korean makes a cross-cutting distinction between tight-fit relations (kkita) versus loose-fit or other contact relations (various verbs). In particular, the Korean verb kkita refers to actions resulting in a tight-fit relation regardless of containment or support. In a preferential looking study we assessed the comprehension of in by 20 English learners and kkita by 10 Korean learners, all between 18 and 23 months. The children viewed pairs of scenes while listening to sentences with and without the target word. The target word led children to gaze at different and language-appropriate aspects of the scenes. We conclude that children are sensitive to language-specific spatial categories by 18–23 months.
  • Christoffels, I. K., Ganushchak, L. Y., & Koester, D. (2013). Language conflict in translation; An ERP study of translation production. Journal of Cognitive Psychology, 25, 646-664. doi:10.1080/20445911.2013.821127.

    Abstract

    Although most bilinguals can translate with relative ease, the underlying neuro-cognitive processes are poorly understood. Using event-related brain potentials (ERPs) we investigated the temporal course of word translation. Participants translated words from and to their first (L1, Dutch) and second (L2, English) language while ERPs were recorded. Interlingual homographs (IHs) were included to introduce language conflict. IHs share orthographic form but have different meanings in L1 and L2 (e.g., room in Dutch refers to cream). Results showed that the brain distinguished between translation directions as early as 200 ms after word presentation: the P2 amplitudes were more positive in the L1L2 translation direction. The N400 was also modulated by translation direction, with more negative amplitudes in the L2L1 translation direction. Furthermore, the IHs were translated more slowly, induced more errors, and elicited more negative N400 amplitudes than control words. In a naming experiment, participants read aloud the same words in L1 or L2 while ERPs were recorded. Results showed no effect of either IHs or language, suggesting that task schemas may be crucially related to language control in translation. Furthermore, translation appears to involve conceptual processing in both translation directions, and the task goal appears to influence how words are processed.

    Files private

    Request files
  • Chu, M., & Kita, S. (2016). Co-thought and Co-speech Gestures Are Generated by the Same Action Generation Process. Journal of Experimental Psychology: Learning, Memory, and Cognition, 42(2), 257-270. doi:10.1037/xlm0000168.

    Abstract

    People spontaneously gesture when they speak (co-speech gestures) and when they solve problems silently (co-thought gestures). In this study, we first explored the relationship between these 2 types of gestures and found that individuals who produced co-thought gestures more frequently also produced co-speech gestures more frequently (Experiments 1 and 2). This suggests that the 2 types of gestures are generated from the same process. We then investigated whether both types of gestures can be generated from the representational use of the action generation process that also generates purposeful actions that have a direct physical impact on the world, such as manipulating an object or locomotion (the action generation hypothesis). To this end, we examined the effect of object affordances on the production of both types of gestures (Experiments 3 and 4). We found that individuals produced co-thought and co-speech gestures more often when the stimulus objects afforded action (objects with a smooth surface) than when they did not (objects with a spiky surface). These results support the action generation hypothesis for representational gestures. However, our findings are incompatible with the hypothesis that co-speech representational gestures are solely generated from the speech production process (the speech production hypothesis).
  • Clifton, Jr., C., Cutler, A., McQueen, J. M., & Van Ooijen, B. (1999). The processing of inflected forms. [Commentary on H. Clahsen: Lexical entries and rules of language.]. Behavioral and Brain Sciences, 22, 1018-1019.

    Abstract

    Clashen proposes two distinct processing routes, for regularly and irregularly inflected forms, respectively, and thus is apparently making a psychological claim. We argue his position, which embodies a strictly linguistic perspective, does not constitute a psychological processing model.
  • Clough, S., & Gordon, J. K. (2020). Fluent or nonfluent? Part A. Underlying contributors to categorical classifications of fluency in aphasia. Aphasiology, 34(5), 515-539. doi:10.1080/02687038.2020.1727709.

    Abstract

    Background: The concept of fluency is widely used to dichotomously classify aphasia syndromes in both research and clinical practice. Despite its ubiquity, reliability of fluency measurement is reduced due to its multi-dimensional nature and the variety of methods used to measure it.
    Aims: The primary aim of the study was to determine what factors contribute to judgements of fluency in aphasia, identifying methodological and linguistic sources of disagreement.
    Methods & Procedures: We compared fluency classifications generated according to fluency scores on the revised Western Aphasia Battery (WAB-R) to clinical impressions of fluency for 254 English-speaking people with aphasia (PwA) from the AphasiaBank database. To determine what contributed to fluency classifications, we examined syndrome diagnoses and measured the predictive strength of 18 spontaneous speech variables extracted from retellings of the Cinderella story. The variables were selected to represent three dimensions predicted to underlie fluency: grammatical competence, lexical retrieval, and the facility of speech production.
    Outcomes & Results: WAB-R fluency classifications agreed with 83% of clinician classifications, although agreement was much greater for fluent than nonfluent classifications. The majority of mismatches were diagnosed with anomic or conduction aphasia by the WAB-R but Broca's aphasia by clinicians. Modifying the WAB-R scale improved the extent to which WAB-R fluency categories matched clinical impressions. Fluency classifications were predicted by a combination of variables, including aspects of grammaticality, lexical retrieval and speech production. However, fluency classification by WAB-R was largely predicted by severity, whereas the presence or absence of apraxia of speech was the largest predictor of fluency classifications by clinicians.
    Conclusions: Fluency judgements according to WAB-R scoring and those according to clinical impression showed some common influences, but also some differences that contributed to mismatches in fluency categorization. We propose that, rather than using dichotomous fluency categories, which can mask sources of disagreement, fluency should be explicitly identified relative to the underlying deficits (word-finding, grammatical formulation, speech production, or a combination) contributing to each individual PwA's fluency profile. Identifying what contributes to fluency disruptions is likely to generate more reliable diagnoses and provide more concrete guidance regarding therapy, avenues we are pursuing in ongoing research.
  • Clough, S., & Duff, M. C. (2020). The role of gesture in communication and cognition: Implications for understanding and treating neurogenic communication disorders. Frontiers in Human Neuroscience, 14: 323. doi:10.3389/fnhum.2020.00323.

    Abstract

    When people talk, they gesture. Gesture is a fundamental component of language that contributes meaningful and unique information to a spoken message and reflects the speaker's underlying knowledge and experiences. Theoretical perspectives of speech and gesture propose that they share a common conceptual origin and have a tightly integrated relationship, overlapping in time, meaning, and function to enrich the communicative context. We review a robust literature from the field of psychology documenting the benefits of gesture for communication for both speakers and listeners, as well as its important cognitive functions for organizing spoken language, and facilitating problem-solving, learning, and memory. Despite this evidence, gesture has been relatively understudied in populations with neurogenic communication disorders. While few studies have examined the rehabilitative potential of gesture in these populations, others have ignored gesture entirely or even discouraged its use. We review the literature characterizing gesture production and its role in intervention for people with aphasia, as well as describe the much sparser literature on gesture in cognitive communication disorders including right hemisphere damage, traumatic brain injury, and Alzheimer's disease. The neuroanatomical and behavioral profiles of these patient populations provide a unique opportunity to test theories of the relationship of speech and gesture and advance our understanding of their neural correlates. This review highlights several gaps in the field of communication disorders which may serve as a bridge for applying the psychological literature of gesture to the study of language disorders. Such future work would benefit from considering theoretical perspectives of gesture and using more rigorous and quantitative empirical methods in its approaches. We discuss implications for leveraging gesture to explore its untapped potential in understanding and rehabilitating neurogenic communication disorders.
  • Cohen, E., & Haun, D. B. M. (2013). The development of tag-based cooperation via a socially acquired trait. Evolution and Human Behavior, 24, 230-235. doi:10.1016/j.evolhumbehav.2013.02.001.

    Abstract

    Recent theoretical models have demonstrated that phenotypic traits can support the non-random assortment of cooperators in a population, thereby permitting the evolution of cooperation. In these “tag-based models”, cooperators modulate cooperation according to an observable and hard-to-fake trait displayed by potential interaction partners. Socially acquired vocalizations in general, and speech accent among humans in particular, are frequently proposed as hard to fake and hard to hide traits that display sufficient cross-populational variability to reliably guide such social assortment in fission–fusion societies. Adults’ sensitivity to accent variation in social evaluation and decisions about cooperation is well-established in sociolinguistic research. The evolutionary and developmental origins of these biases are largely unknown, however. Here, we investigate the influence of speech accent on 5–10-year-old children's developing social and cooperative preferences across four Brazilian Amazonian towns. Two sites have a single dominant accent, and two sites have multiple co-existing accent varieties. We found that children's friendship and resource allocation preferences were guided by accent only in sites characterized by accent heterogeneity. Results further suggest that this may be due to a more sensitively tuned ear for accent variation. The demonstrated local-accent preference did not hold in the face of personal cost. Results suggest that mechanisms guiding tag-based assortment are likely tuned according to locally relevant tag-variation.

    Additional information

    Cohen_Suppl_Mat_2013.docx
  • Collins, J. (2016). The role of language contact in creating correlations between humidity and tone. Journal of Language Evolution, 46-52. doi:10.1093/jole/lzv012.
  • Connaughton, D. M., Dai, R., Owen, D. J., Marquez, J., Mann, N., Graham-Paquin, A. L., Nakayama, M., Coyaud, E., Laurent, E. M. N., St-Germain, J. R., Snijders Blok, L., Vino, A., Klämbt, V., Deutsch, K., Wu, C.-H.-W., Kolvenbach, C. M., Kause, F., Ottlewski, I., Schneider, R., Kitzler, T. M. and 79 moreConnaughton, D. M., Dai, R., Owen, D. J., Marquez, J., Mann, N., Graham-Paquin, A. L., Nakayama, M., Coyaud, E., Laurent, E. M. N., St-Germain, J. R., Snijders Blok, L., Vino, A., Klämbt, V., Deutsch, K., Wu, C.-H.-W., Kolvenbach, C. M., Kause, F., Ottlewski, I., Schneider, R., Kitzler, T. M., Majmundar, A. J., Buerger, F., Onuchic-Whitford, A. C., Youying, M., Kolb, A., Salmanullah, D., Chen, E., Van der Ven, A. T., Rao, J., Ityel, H., Seltzsam, S., Rieke, J. M., Chen, J., Vivante, A., Hwang, D.-Y., Kohl, S., Dworschak, G. C., Hermle, T., Alders, M., Bartolomaeus, T., Bauer, S. B., Baum, M. A., Brilstra, E. H., Challman, T. D., Zyskind, J., Costin, C. E., Dipple, K. M., Duijkers, F. A., Ferguson, M., Fitzpatrick, D. R., Fick, R., Glass, I. A., Hulick, P. J., Kline, A. D., Krey, I., Kumar, S., Lu, W., Marco, E. J., Wentzensen, I. M., Mefford, H. C., Platzer, K., Povolotskaya, I. S., Savatt, J. M., Shcherbakova, N. V., Senguttuvan, P., Squire, A. E., Stein, D. R., Thiffault, I., Voinova, V. Y., Somers, M. J. G., Ferguson, M. A., Traum, A. Z., Daouk, G. H., Daga, A., Rodig, N. M., Terhal, P. A., Van Binsbergen, E., Eid, L. A., Tasic, V., Rasouly, H. M., Lim, T. Y., Ahram, D. F., Gharavi, A. G., Reutter, H. M., Rehm, H. L., MacArthur, D. G., Lek, M., Laricchia, K. M., Lifton, R. P., Xu, H., Mane, S. M., Sanna-Cherchi, S., Sharrocks, A. D., Raught, B., Fisher, S. E., Bouchard, M., Khokha, M. K., Shril, S., & Hildebrandt, F. (2020). Mutations of the transcriptional corepressor ZMYM2 cause syndromic urinary tract malformations. The American Journal of Human Genetics, 107(4), 727-742. doi:10.1016/j.ajhg.2020.08.013.

    Abstract

    Congenital anomalies of the kidney and urinary tract (CAKUT) constitute one of the most frequent birth defects and represent the most common cause of chronic kidney disease in the first three decades of life. Despite the discovery of dozens of monogenic causes of CAKUT, most pathogenic pathways remain elusive. We performed whole-exome sequencing (WES) in 551 individuals with CAKUT and identified a heterozygous de novo stop-gain variant in ZMYM2 in two different families with CAKUT. Through collaboration, we identified in total 14 different heterozygous loss-of-function mutations in ZMYM2 in 15 unrelated families. Most mutations occurred de novo, indicating possible interference with reproductive function. Human disease features are replicated in X. tropicalis larvae with morpholino knockdowns, in which expression of truncated ZMYM2 proteins, based on individual mutations, failed to rescue renal and craniofacial defects. Moreover, heterozygous Zmym2-deficient mice recapitulated features of CAKUT with high penetrance. The ZMYM2 protein is a component of a transcriptional corepressor complex recently linked to the silencing of developmentally regulated endogenous retrovirus elements. Using protein-protein interaction assays, we show that ZMYM2 interacts with additional epigenetic silencing complexes, as well as confirming that it binds to FOXP1, a transcription factor that has also been linked to CAKUT. In summary, our findings establish that loss-of-function mutations of ZMYM2, and potentially that of other proteins in its interactome, as causes of human CAKUT, offering new routes for studying the pathogenesis of the disorder.
  • Connell, L., Cai, Z. G., & Holler, J. (2013). Do you see what I'm singing? Visuospatial movement biases pitch perception. Brain and Cognition, 81, 124-130. doi:10.1016/j.bandc.2012.09.005.

    Abstract

    The nature of the connection between musical and spatial processing is controversial. While pitch may be described in spatial terms such as “high” or “low”, it is unclear whether pitch and space are associated but separate dimensions or whether they share representational and processing resources. In the present study, we asked participants to judge whether a target vocal note was the same as (or different from) a preceding cue note. Importantly, target trials were presented as video clips where a singer sometimes gestured upward or downward while singing that target note, thus providing an alternative, concurrent source of spatial information. Our results show that pitch discrimination was significantly biased by the spatial movement in gesture, such that downward gestures made notes seem lower in pitch than they really were, and upward gestures made notes seem higher in pitch. These effects were eliminated by spatial memory load but preserved under verbal memory load conditions. Together, our findings suggest that pitch and space have a shared representation such that the mental representation of pitch is audiospatial in nature.
  • Coopmans, C. W., & Schoenmakers, G.-J. (2020). Incremental structure building of preverbal PPs in Dutch. Linguistics in the Netherlands, 37(1), 38-52. doi:10.1075/avt.00036.coo.

    Abstract

    Incremental comprehension of head-final constructions can reveal structural attachment preferences for ambiguous phrases. This study investigates
    how temporarily ambiguous PPs are processed in Dutch verb-final constructions. In De aannemer heeft op het dakterras bespaard/gewerkt ‘The
    contractor has on the roof terrace saved/worked’, the PP is locally ambiguous between attachment as argument and as adjunct. This ambiguity is
    resolved by the sentence-final verb. In a self-paced reading task, we manipulated the argument/adjunct status of the PP, and its position relative to the
    verb. While we found no reading-time differences between argument and
    adjunct PPs, we did find that transitive verbs, for which the PP is an argument, were read more slowly than intransitive verbs, for which the PP is an adjunct. We suggest that Dutch parsers have a preference for adjunct attachment of preverbal PPs, and discuss our findings in terms of incremental
    parsing models that aim to minimize costly reanalysis.
  • Coopmans, C. W., & Nieuwland, M. S. (2020). Dissociating activation and integration of discourse referents: Evidence from ERPs and oscillations. Cortex, 126, 83-106. doi:10.1016/j.cortex.2019.12.028.

    Abstract

    A key challenge in understanding stories and conversations is the comprehension of ‘anaphora’, words that refer back to previously mentioned words or concepts (‘antecedents’). In psycholinguistic theories, anaphor comprehension involves the initial activation of the antecedent and its subsequent integration into the unfolding representation of the narrated event. A recent proposal suggests that these processes draw upon the brain’s recognition memory and language networks, respectively, and may be dissociable in patterns of neural oscillatory synchronization (Nieuwland & Martin, 2017). We addressed this proposal in an electroencephalogram (EEG) study with pre-registered data acquisition and analyses, using event-related potentials (ERPs) and neural oscillations. Dutch participants read two-sentence mini stories containing proper names, which were repeated or new (ease of activation) and semantically coherent or incoherent with the preceding discourse (ease of integration). Repeated names elicited lower N400 and Late Positive Component amplitude than new names, and also an increase in theta-band (4-7 Hz) synchronization, which was largest around 240-450 ms after name onset. Discourse-coherent names elicited an increase in gamma-band (60-80 Hz) synchronization compared to discourse-incoherent names. This effect was largest around 690-1000 ms after name onset and exploratory beamformer analysis suggested a left frontal source. We argue that the initial activation and subsequent discourse-level integration of referents can be dissociated with event-related EEG activity, and are associated with respectively theta- and gamma-band activity. These findings further establish the link between memory and language through neural oscillations.

    Additional information

    materials, data, and analysis scripts
  • Corps, R. E., Gambi, C., & Pickering, M. J. (2020). How do listeners time response articulation when answering questions? The role of speech rate. Journal of Experimental Psychology: Learning, Memory, and Cognition, 46(4), 781-802. doi:10.1037/xlm0000759.

    Abstract

    During conversation, interlocutors often produce their utterances with little overlap or gap between their turns. But what mechanism underlies this striking ability to time articulation appropriately? In 2 verbal yes/no question-answering experiments, we investigated whether listeners use the speech rate of questions to time articulation of their answers. In Experiment 1, we orthogonally manipulated the speech rate of the context (e.g., Do you have a . . .) and final word (e.g., dog?) of questions using time-compression, so that each component was spoken at the natural rate or twice as a fast. Listeners responded earlier when the context was speeded rather than natural, suggesting they used the speaker’s context rate to time answer articulation. Additionally, listeners responded earlier when the speaker’s final syllable was speeded than natural, regardless of context rate, suggesting they adjusted the timing of articulation after listening to a single syllable produced at a different rate. We replicated this final word effect in Experiment 2, which also showed that our speech rate manipulation did not influence the timing of response preparation. Together, these findings suggest listeners use speech rate information to time articulation when answering questions
  • Corps, R. E., & Rabagliati, H. (2020). How top-down processing enhances comprehension of noise-vocoded speech: Predictions about meaning are more important than predictions about form. Journal of Memory and Language, 113: 104114. doi:10.1016/j.jml.2020.104114.

    Abstract

    Listeners quickly learn to understand speech that has been distorted, and this process is enhanced when comprehension is constrained by higher-level knowledge. In three experiments, we investigated whether this knowledge enhances comprehension of distorted speech because it allows listeners to predict (1) the meaning of the distorted utterance, or (2) the lower-level wordforms. Participants listened to question-answer sequences, in which questions were clearly-spoken but answers were noise-vocoded. Comprehension (Experiment 1) and learning (Experiment 2) were enhanced when listeners could use the question to predict the semantics of the distorted answer, but were not enhanced by predictions of answer form. Form predictions enhanced comprehension only when questions and answers were significantly separated by time and intervening linguistic material (Experiment 3). Together, these results suggest that high-level semantic predictions enhance comprehension and learning, with form predictions playing only a minimal role.
  • Coulson, S., & Lai, V. T. (Eds.). (2016). The metaphorical brain [Research topic]. Lausanne: Frontiers Media. doi:10.3389/978-2-88919-772-9.

    Abstract

    This Frontiers Special Issue will synthesize current findings on the cognitive neuroscience of metaphor, provide a forum for voicing novel perspectives, and promote new insights into the metaphorical brain.
  • Cousminer, D. L., Berry, D. J., Timpson, N. J., Ang, W., Thiering, E., Byrne, E. M., Taal, H. R., Huikari, V., Bradfield, J. P., Kerkhof, M., Groen-Blokhuis, M. M., Kreiner-Møller, E., Marinelli, M., Holst, C., Leinonen, J. T., Perry, J. R. B., Surakka, I., Pietiläinen, O., Kettunen, J., Anttila, V. and 50 moreCousminer, D. L., Berry, D. J., Timpson, N. J., Ang, W., Thiering, E., Byrne, E. M., Taal, H. R., Huikari, V., Bradfield, J. P., Kerkhof, M., Groen-Blokhuis, M. M., Kreiner-Møller, E., Marinelli, M., Holst, C., Leinonen, J. T., Perry, J. R. B., Surakka, I., Pietiläinen, O., Kettunen, J., Anttila, V., Kaakinen, M., Sovio, U., Pouta, A., Das, S., Lagou, V., Power, C., Prokopenko, I., Evans, D. M., Kemp, J. P., St Pourcain, B., Ring, S., Palotie, A., Kajantie, E., Osmond, C., Lehtimäki, T., Viikari, J. S., Kähönen, M., Warrington, N. M., Lye, S. J., Palmer, L. J., Tiesler, C. M. T., Flexeder, C., Montgomery, G. W., Medland, S. E., Hofman, A., Hakonarson, H., Guxens, M., Bartels, M., Salomaa, V., Murabito, J. M., Kaprio, J., Sørensen, T. I. A., Ballester, F., Bisgaard, H., Boomsma, D. I., Koppelman, G. H., Grant, S. F. A., Jaddoe, V. W. V., Martin, N. G., Heinrich, J., Pennell, C. E., Raitakari, O. T., Eriksson, J. G., Smith, G. D., Hyppönen, E., Järvelin, M.-R., McCarthy, M. I., Ripatti, S., Widén, E., Consortium ReproGen, & Consortium Early Growth Genetics (EGG) (2013). Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity. Human Molecular Genetics, 22(13), 2735-2747. doi:10.1093/hmg/ddt104.

    Abstract

    The pubertal height growth spurt is a distinctive feature of childhood growth reflecting both the central onset of puberty and local growth factors. Although little is known about the underlying genetics, growth variability during puberty correlates with adult risks for hormone-dependent cancer and adverse cardiometabolic health. The only gene so far associated with pubertal height growth, LIN28B, pleiotropically influences childhood growth, puberty and cancer progression, pointing to shared underlying mechanisms. To discover genetic loci influencing pubertal height and growth and to place them in context of overall growth and maturation, we performed genome-wide association meta-analyses in 18 737 European samples utilizing longitudinally collected height measurements. We found significant associations (P < 1.67 × 10(-8)) at 10 loci, including LIN28B. Five loci associated with pubertal timing, all impacting multiple aspects of growth. In particular, a novel variant correlated with expression of MAPK3, and associated both with increased prepubertal growth and earlier menarche. Another variant near ADCY3-POMC associated with increased body mass index, reduced pubertal growth and earlier puberty. Whereas epidemiological correlations suggest that early puberty marks a pathway from rapid prepubertal growth to reduced final height and adult obesity, our study shows that individual loci associating with pubertal growth have variable longitudinal growth patterns that may differ from epidemiological observations. Overall, this study uncovers part of the complex genetic architecture linking pubertal height growth, the timing of puberty and childhood obesity and provides new information to pinpoint processes linking these traits.
  • Creemers, A., Goodwin Davies, A., Wilder, R. J., Tamminga, M., & Embick, D. (2020). Opacity, transparency, and morphological priming: A study of prefixed verbs in Dutch. Journal of Memory and Language, 110: 104055. doi:10.1016/j.jml.2019.104055.

    Abstract

    A basic question for the study of the mental lexicon is whether there are morphological representations and processes that are independent of phonology and semantics. According to a prominent tradition, morphological relatedness requires semantic transparency: semantically transparent words are related in meaning to their stems, while semantically opaque words are not. This study examines the question of morphological relatedness using intra-modal auditory priming by Dutch prefixed verbs. The key conditions involve semantically transparent prefixed primes (e.g., aanbieden ‘offer’, with the stem bieden, also ‘offer’) and opaque primes (e.g., verbieden ‘forbid’). Results show robust facilitation for both transparent and opaque pairs; phonological (Experiment 1) and semantic (Experiment 2) controls rule out the possibility that these other types of relatedness are responsible for the observed priming effects. The finding of facilitation with opaque primes suggests that morphological processing is independent of semantic and phonological representations. Accordingly, the results are incompatible with theories that make semantic overlap a necessary condition for relatedness, and favor theories in which words may be related in ways that do not require shared meaning. The general discussion considers several specific proposals along these lines, and compares and contrasts questions about morphological relatedness of the type found here with the different but related question of whether there is morphological decomposition of complex forms or not.
  • Cristia, A., Dupoux, E., Hakuno, Y., Lloyd-Fox, S., Schuetze, M., Kivits, J., Bergvelt, T., Van Gelder, M., Filippin, L., Charron, S., & Minagawa-Kawai, Y. (2013). An online database of infant functional Near InfraRed Spectroscopy studies: A community-augmented systematic review. PLoS One, 8(3): e58906. doi:10.1371/journal.pone.0058906.

    Abstract

    Until recently, imaging the infant brain was very challenging. Functional Near InfraRed Spectroscopy (fNIRS) is a promising, relatively novel technique, whose use is rapidly expanding. As an emergent field, it is particularly important to share methodological knowledge to ensure replicable and robust results. In this paper, we present a community-augmented database which will facilitate precisely this exchange. We tabulated articles and theses reporting empirical fNIRS research carried out on infants below three years of age along several methodological variables. The resulting spreadsheet has been uploaded in a format allowing individuals to continue adding new results, and download the most recent version of the table. Thus, this database is ideal to carry out systematic reviews. We illustrate its academic utility by focusing on the factors affecting three key variables: infant attrition, the reliability of oxygenated and deoxygenated responses, and signal-to-noise ratios. We then discuss strengths and weaknesses of the DBIfNIRS, and conclude by suggesting a set of simple guidelines aimed to facilitate methodological convergence through the standardization of reports.
  • Cristia, A. (2013). Input to language: The phonetics of infant-directed speech. Language and Linguistics Compass, 7, 157-170. doi:10.1111/lnc3.12015.

    Abstract

    Over the first year of life, infant perception changes radically as the child learns the phonology of the ambient language from the speech she is exposed to. Since infant-directed speech attracts the child's attention more than other registers, it is necessary to describe that input in order to understand language development, and to address questions of learnability. In this review, evidence from corpora analyses, experimental studies, and observational paradigms is brought together to outline the first comprehensive empirical picture of infant-directed speech and its effects on language acquisition. The ensuing landscape suggests that infant-directed speech provides an emotionally and linguistically rich input to language acquisition

    Additional information

    Cristia_Suppl_Material.xls
  • Cristia, A., Mielke, J., Daland, R., & Peperkamp, S. (2013). Similarity in the generalization of implicitly learned sound patterns. Journal of Laboratory Phonology, 4(2), 259-285.

    Abstract

    A core property of language is the ability to generalize beyond observed examples. In two experiments, we explore how listeners generalize implicitly learned sound patterns to new nonwords and to new sounds, with the goal of shedding light on how similarity affects treatment of potential generalization targets. During the exposure phase, listeners heard nonwords whose onset consonant was restricted to a subset of a natural class (e.g., /d g v z Z/). During the test phase, listeners were presented with new nonwords and asked to judge how frequently they had been presented before; some of the test items began with a consonant from the exposure set (e.g., /d/), and some began with novel consonants with varying relations to the exposure set (e.g., /b/, which is highly similar to all onsets in the training set; /t/, which is highly similar to one of the training onsets; and /p/, which is less similar than the other two). The exposure onset was rated most frequent, indicating that participants encoded onset attestation in the exposure set, and generalized it to new nonwords. Participants also rated novel consonants as somewhat frequent, indicating generalization to onsets that did not occur in the exposure phase. While generalization could be accounted for in terms of featural distance, it was insensitive to natural class structure. Generalization to new sounds was predicted better by models requiring prior linguistic knowledge (either traditional distinctive features or articulatory phonetic information) than by a model based on a linguistically naïve measure of acoustic similarity.
  • Croijmans, I., Hendrickx, I., Lefever, E., Majid, A., & Van den Bosch, A. (2020). Uncovering the language of wine experts. Natural Language Engineering, 26(5), 511-530. doi:10.1017/S1351324919000500.

    Abstract

    Talking about odors and flavors is difficult for most people, yet experts appear to be able to convey critical information about wines in their reviews. This seems to be a contradiction, and wine expert descriptions are frequently received with criticism. Here, we propose a method for probing the language of wine reviews, and thus offer a means to enhance current vocabularies, and as a by-product question the general assumption that wine reviews are gibberish. By means of two different quantitative analyses—support vector machines for classification and Termhood analysis—on a corpus of online wine reviews, we tested whether wine reviews are written in a consistent manner, and thus may be considered informative; and whether reviews feature domain-specific language. First, a classification paradigm was trained on wine reviews from one set of authors for which the color, grape variety, and origin of a wine were known, and subsequently tested on data from a new author. This analysis revealed that, regardless of individual differences in vocabulary preferences, color and grape variety were predicted with high accuracy. Second, using Termhood as a measure of how words are used in wine reviews in a domain-specific manner compared to other genres in English, a list of 146 wine-specific terms was uncovered. These words were compared to existing lists of wine vocabulary that are currently used to train experts. Some overlap was observed, but there were also gaps revealed in the extant lists, suggesting these lists could be improved by our automatic analysis.
  • Croijmans, I. (2016). Gelukkig kunnen we erover praten: Over de kunst om geuren en smaken in woorden te omschrijven. koffieTcacao, 17, 80-81.
  • Croijmans, I., & Majid, A. (2016). Not all flavor expertise is equal: The language of wine and coffee experts. PLoS One, 11(6): e0155845. doi:10.1371/journal.pone.0155845.

    Abstract

    People in Western cultures are poor at naming smells and flavors. However, for wine and
    coffee experts, describing smells and flavors is part of their daily routine. So are experts bet-
    ter than lay people at conveying smells and flavors in language? If smells and flavors are
    more easily linguistically expressed by experts, or more

    codable

    , then experts should be
    better than novices at describing smells and flavors. If experts are indeed better, we can
    also ask how general this advantage is: do experts show higher codability only for smells
    and flavors they are expert in (i.e., wine experts for wine and coffee experts for coffee) or is
    their linguistic dexterity more general? To address these questions, wine experts, coffee
    experts, and novices were asked to describe the smell and flavor of wines, coffees, every-
    day odors, and basic tastes. The resulting descriptions were compared on a number of
    measures. We found expertise endows a modest advantage in smell and flavor naming.
    Wine experts showed more consistency in how they described wine smells and flavors than
    coffee experts, and novices; but coffee experts were not more consistent for coffee descriptions. Neither expert group was any more accurate at identifying everyday smells or tastes. Interestingly, both wine and coffee experts tended to use more source-based terms (e.g., vanilla) in descriptions of their own area of expertise whereas novices tended to use more
    evaluative terms (e.g.,nice). However, the overall linguistic strategies for both groups were en par. To conclude, experts only have a limited, domain-specific advantage when communicating about smells and flavors. The ability to communicate about smells and flavors is a matter not only of perceptual training, but specific linguistic training too

    Additional information

    Data availability
  • Cronin, K. A. (2013). [Review of the book Chimpanzees of the Lakeshore: Natural history and culture at Mahale by Toshisada Nishida]. Animal Behaviour, 85, 685-686. doi:10.1016/j.anbehav.2013.01.001.

    Abstract

    First paragraph: Motivated by his quest to characterize the society of the last common ancestor of humans and other great apes, Toshisada Nishida set out as a graduate student to the Mahale Mountains on the eastern shore of Lake Tanganyika, Tanzania. This book is a story of his 45 years with the Mahale chimpanzees, or as he calls it, their ethnography. Beginning with his accounts of meeting the Tongwe people and the challenges of provisioning the chimpanzees for habituation, Nishida reveals how he slowly unravelled the unit group and community basis of chimpanzee social organization. The book begins and ends with a feeling of chronological order, starting with his arrival at Mahale and ending with an eye towards the future, with concrete recommendations for protecting wild chimpanzees. However, the bulk of the book is topically organized with chapters on feeding behaviour, growth and development, play and exploration, communication, life histories, sexual strategies, politics and culture.
  • Cronin, K. A., West, V., & Ross, S. R. (2016). Investigating the Relationship between Welfare and Rearing Young in Captive Chimpanzees (Pan troglodytes). Applied Animal Behaviour Science, 181, 166-172. doi:10.1016/j.applanim.2016.05.014.

    Abstract

    Whether the opportunity to breed and rear young improves the welfare of captive animals is currently debated. However, there is very little empirical data available to evaluate this relationship and this study is a first attempt to contribute objective data to this debate. We utilized the existing variation in the reproductive experiences of sanctuary chimpanzees at Chimfunshi Wildlife Orphanage Trust in Zambia to investigate whether breeding and rearing young was associated with improved welfare for adult females (N = 43). We considered several behavioural welfare indicators, including rates of luxury behaviours and abnormal or stress-related behaviours under normal conditions and conditions inducing social stress. Furthermore, we investigated whether spending time with young was associated with good or poor welfare for adult females, regardless of their kin relationship. We used generalized linear mixed models and found no difference between adult females with and without dependent young on any welfare indices, nor did we find that time spent in proximity to unrelated young predicted welfare (all full-null model comparisons likelihood ratio tests P > 0.05). However, we did find that coprophagy was more prevalent among mother-reared than non-mother-reared individuals, in line with recent work suggesting this behaviour may have a different etiology than other behaviours often considered to be abnormal. In sum, the findings from this initial study lend support to the hypothesis that the opportunity to breed and rear young does not provide a welfare benefit for chimpanzees in captivity. We hope this investigation provides a valuable starting point for empirical study into the welfare implications of managed breeding.

    Additional information

    mmc1.pdf
  • Cross, Z. R., Santamaria, A., Corcoran, A. W., Chatburn, A., Alday, P. M., Coussens, S., & Kohler, M. J. (2020). Individual alpha frequency modulates sleep-related emotional memory consolidation. Neuropsychologia, 148: 107660. doi:10.1016/j.neuropsychologia.2020.107660.

    Abstract

    Alpha-band oscillatory activity is involved in modulating memory and attention. However, few studies have investigated individual differences in oscillatory activity during the encoding of emotional memory, particularly in sleep paradigms where sleep is thought to play an active role in memory consolidation. The current study aimed to address the question of whether individual alpha frequency (IAF) modulates the consolidation of declarative memory across periods of sleep and wake. 22 participants aged 18 – 41 years (mean age = 25.77) viewed 120 emotionally valenced images (positive, negative, neutral) and completed a baseline memory task before a 2hr afternoon sleep opportunity and an equivalent period of wake. Following the sleep and wake conditions, participants were required to distinguish between 120 learned (target) images and 120 new (distractor) images. This method allowed us to delineate the role of different oscillatory components of sleep and wake states in the emotional modulation of memory. Linear mixed-effects models revealed interactions between IAF, rapid eye movement sleep theta power, and slow-wave sleep slow oscillatory density on memory outcomes. These results highlight the importance of individual factors in the EEG in modulating oscillatory-related memory consolidation and subsequent behavioural outcomes and test predictions proposed by models of sleep-based memory consolidation.

    Additional information

    supplementary data
  • Ip, M. H. K., & Cutler, A. (2020). Universals of listening: Equivalent prosodic entrainment in tone and non-tone languages. Cognition, 202: 104311. doi:10.1016/j.cognition.2020.104311.

    Abstract

    In English and Dutch, listeners entrain to prosodic contours to predict where focus will fall in an utterance. Here, we ask whether this strategy is universally available, even in languages with very different phonological systems (e.g., tone versus non-tone languages). In a phoneme detection experiment, we examined whether prosodic entrainment also occurs in Mandarin Chinese, a tone language, where the use of various suprasegmental cues to lexical identity may take precedence over their use in salience. Consistent with the results from Germanic languages, response times were facilitated when preceding intonation predicted high stress on the target-bearing word, and the lexical tone of the target word (i.e., rising versus falling) did not affect the Mandarin listeners' response. Further, the extent to which prosodic entrainment was used to detect the target phoneme was the same in both English and Mandarin listeners. Nevertheless, native Mandarin speakers did not adopt an entrainment strategy when the sentences were presented in English, consistent with the suggestion that L2 listening may be strained by additional functional load from prosodic processing. These findings have implications for how universal and language-specific mechanisms interact in the perception of focus structure in everyday discourse.

    Additional information

    supplementary data
  • Cutler, A., & Norris, D. (2016). Bottoms up! How top-down pitfalls ensnare speech perception researchers too. Commentary on C. Firestone & B. Scholl: Cognition does not affect perception: Evaluating the evidence for 'top-down' effects. Behavioral and Brain Sciences, e236. doi:10.1017/S0140525X15002745.

    Abstract

    Not only can the pitfalls that Firestone & Scholl (F&S) identify be generalised across multiple studies within the field of visual perception, but also they have general application outside the field wherever perceptual and cognitive processing are compared. We call attention to the widespread susceptibility of research on the perception of speech to versions of the same pitfalls.
  • Cutler, A., & Norris, D. (1999). Sharpening Ockham’s razor (Commentary on W.J.M. Levelt, A. Roelofs & A.S. Meyer: A theory of lexical access in speech production). Behavioral and Brain Sciences, 22, 40-41.

    Abstract

    Language production and comprehension are intimately interrelated; and models of production and comprehension should, we argue, be constrained by common architectural guidelines. Levelt et al.'s target article adopts as guiding principle Ockham's razor: the best model of production is the simplest one. We recommend adoption of the same principle in comprehension, with consequent simplification of some well-known types of models.
  • Cutler, A., & Otake, T. (1999). Pitch accent in spoken-word recognition in Japanese. Journal of the Acoustical Society of America, 105, 1877-1888.

    Abstract

    Three experiments addressed the question of whether pitch-accent information may be exploited in the process of recognizing spoken words in Tokyo Japanese. In a two-choice classification task, listeners judged from which of two words, differing in accentual structure, isolated syllables had been extracted ~e.g., ka from baka HL or gaka LH!; most judgments were correct, and listeners’ decisions were correlated with the fundamental frequency characteristics of the syllables. In a gating experiment, listeners heard initial fragments of words and guessed what the words were; their guesses overwhelmingly had the same initial accent structure as the gated word even when only the beginning CV of the stimulus ~e.g., na- from nagasa HLL or nagashi LHH! was presented. In addition, listeners were more confident in guesses with the same initial accent structure as the stimulus than in guesses with different accent. In a lexical decision experiment, responses to spoken words ~e.g., ame HL! were speeded by previous presentation of the same word ~e.g., ame HL! but not by previous presentation of a word differing only in accent ~e.g., ame LH!. Together these findings provide strong evidence that accentual information constrains the activation and selection of candidates for spoken-word recognition.
  • Cutter, M. G., Martin, A. E., & Sturt, P. (2020). Capitalization interacts with syntactic complexity. Journal of Experimental Psychology: Learning, Memory, and Cognition, 46(6), 1146-1164. doi:10.1037/xlm0000780.

    Abstract

    We investigated whether readers use the low-level cue of proper noun capitalization in the parafovea to infer syntactic category, and whether this results in an early update of the representation of a sentence’s syntactic structure. Participants read sentences containing either a subject relative or object relative clause, in which the relative clause’s overt argument was a proper noun (e.g., The tall lanky guard who alerted Charlie/Charlie alerted to the danger was young) across three experiments. In Experiment 1 these sentences were presented in normal sentence casing or entirely in upper case. In Experiment 2 participants received either valid or invalid parafoveal previews of the relative clause. In Experiment 3 participants viewed relative clauses in only normal conditions. We hypothesized that we would observe relative clause effects (i.e., inflated fixation times for object relative clauses) while readers were still fixated on the word who, if readers use capitalization to infer a parafoveal word’s syntactic class. This would constitute a syntactic parafoveal-on-foveal effect. Furthermore, we hypothesised that this effect should be influenced by sentence casing in Experiment 1 (with no cue for syntactic category being available in upper case sentences) but not by parafoveal preview validity of the target words. We observed syntactic parafoveal-on-foveal effects in Experiment 1 and 3, and a Bayesian analysis of the combined data from all three experiments. These effects seemed to be influenced more by noun capitalization than lexical processing. We discuss our findings in relation to models of eye movement control and sentence processing theories.
  • Cutter, M. G., Martin, A. E., & Sturt, P. (2020). Readers detect an low-level phonological violation between two parafoveal words. Cognition, 204: 104395. doi:10.1016/j.cognition.2020.104395.

    Abstract

    In two eye-tracking studies we investigated whether readers can detect a violation of the phonological-grammatical convention for the indefinite article an to be followed by a word beginning with a vowel when these two words appear in the parafovea. Across two experiments participants read sentences in which the word an was followed by a parafoveal preview that was either correct (e.g. Icelandic), incorrect and represented a phonological violation (e.g. Mongolian), or incorrect without representing a phonological violation (e.g. Ethiopian), with this parafoveal preview changing to the target word as participants made a saccade into the space preceding an. Our data suggests that participants detected the phonological violation while the target word was still two words to the right of fixation, with participants making more regressions from the previewed word and having longer go-past times on this word when they received a violation preview as opposed to a non-violation preview. We argue that participants were attempting to perform aspects of sentence integration on the basis of low-level orthographic information from the previewed word.

    Additional information

    Data files and R Scripts
  • Cutter, M. G., Martin, A. E., & Sturt, P. (2020). The activation of contextually predictable words in syntactically illegal positions. Quarterly Journal of Experimental Psychology, 73(9), 1423-1430. doi:10.1177/1747021820911021.

    Abstract

    We present an eye-tracking study testing a hypothesis emerging from several theories of prediction during language processing, whereby predictable words should be skipped more than unpredictable words even in syntactically illegal positions. Participants read sentences in which a target word became predictable by a certain point (e.g., “bone” is 92% predictable given, “The dog buried his. . .”), with the next word actually being an intensifier (e.g., “really”), which a noun cannot follow. The target noun remained predictable to appear later in the sentence. We used the boundary paradigm to present the predictable noun or an alternative unpredictable noun (e.g., “food”) directly after the intensifier, until participants moved beyond the intensifier, at which point the noun changed to a syntactically legal word. Participants also read sentences in which predictable or unpredictable nouns appeared in syntactically legal positions. A Bayesian linear-mixed model suggested a 5.7% predictability effect on skipping of nouns in syntactically legal positions, and a 3.1% predictability effect on skipping of nouns in illegal positions. We discuss our findings in relation to theories of lexical prediction during reading.

    Additional information

    OSF data
  • Cychosz, M., Romeo, R., Soderstrom, M., Scaff, C., Ganek, H., Cristia, A., Casillas, M., De Barbaro, K., Bang, J. Y., & Weisleder, A. (2020). Longform recordings of everyday life: Ethics for best practices. Behavior Research Methods, 52, 1951-1969. doi:10.3758/s13428-020-01365-9.

    Abstract

    Recent advances in large-scale data storage and processing offer unprecedented opportunities for behavioral scientists to collect and analyze naturalistic data, including from under-represented groups. Audio data, particularly real-world audio recordings, are of particular interest to behavioral scientists because they provide high-fidelity access to subtle aspects of daily life and social interactions. However, these methodological advances pose novel risks to research participants and communities. In this article, we outline the benefits and challenges associated with collecting, analyzing, and sharing multi-hour audio recording data. Guided by the principles of autonomy, privacy, beneficence, and justice, we propose a set of ethical guidelines for the use of longform audio recordings in behavioral research. This article is also accompanied by an Open Science Framework Ethics Repository that includes informed consent resources such as frequent participant concerns and sample consent forms.
  • D'Alessandra, Y., Carena, M. C., Spazzafumo, L., Martinelli, F., Bassetti, B., Devanna, P., Rubino, M., Marenzi, G., Colombo, G. I., Achilli, F., Maggiolini, S., Capogrossi, M. C., & Pompilio, G. (2013). Diagnostic Potential of Plasmatic MicroRNA Signatures in Stable and Unstable Angina. PLoS ONE, 8(11), e80345. doi:10.1371/journal.pone.0080345.

    Abstract

    PURPOSE: We examined circulating miRNA expression profiles in plasma of patients with coronary artery disease (CAD) vs. matched controls, with the aim of identifying novel discriminating biomarkers of Stable (SA) and Unstable (UA) angina. METHODS: An exploratory analysis of plasmatic expression profile of 367 miRNAs was conducted in a group of SA and UA patients and control donors, using TaqMan microRNA Arrays. Screening confirmation and expression analysis were performed by qRT-PCR: all miRNAs found dysregulated were examined in the plasma of troponin-negative UA (n=19) and SA (n=34) patients and control subjects (n=20), matched for sex, age, and cardiovascular risk factors. In addition, the expression of 14 known CAD-associated miRNAs was also investigated. RESULTS: Out of 178 miRNAs consistently detected in plasma samples, 3 showed positive modulation by CAD when compared to controls: miR-337-5p, miR-433, and miR-485-3p. Further, miR-1, -122, -126, -133a, -133b, and miR-199a were positively modulated in both UA and SA patients, while miR-337-5p and miR-145 showed a positive modulation only in SA or UA patients, respectively. ROC curve analyses showed a good diagnostic potential (AUC ≥ 0.85) for miR-1, -126, and -483-5p in SA and for miR-1, -126, and -133a in UA patients vs. controls, respectively. No discriminating AUC values were observed comparing SA vs. UA patients. Hierarchical cluster analysis showed that the combination of miR-1, -133a, and -126 in UA and of miR-1, -126, and -485-3p in SA correctly classified patients vs. controls with an efficiency ≥ 87%. No combination of miRNAs was able to reliably discriminate patients with UA from patients with SA. CONCLUSIONS: This work showed that specific plasmatic miRNA signatures have the potential to accurately discriminate patients with angiographically documented CAD from matched controls. We failed to identify a plasmatic miRNA expression pattern capable to differentiate SA from UA patients.
  • Dastjerdi, M., Ozker, M., Foster, B. L., Rangarajan, V., & Parvizi, J. (2013). Numerical processing in the human parietal cortex during experimental and natural conditions. Nature Communications, 4: 2528. doi:10.1038/ncomms3528.

    Abstract

    Human cognition is traditionally studied in experimental conditions wherein confounding complexities of the natural environment are intentionally eliminated. Thus, it remains unknown how a brain region involved in a particular experimental condition is engaged in natural conditions. Here we use electrocorticography to address this uncertainty in three participants implanted with intracranial electrodes and identify activations of neuronal populations within the intraparietal sulcus region during an experimental arithmetic condition. In a subsequent analysis, we report that the same intraparietal sulcus neural populations are activated when participants, engaged in social conversations, refer to objects with numerical content. Our prototype approach provides a means for both exploring human brain dynamics as they unfold in complex social settings and reconstructing natural experiences from recorded brain signals.
  • Davidson, D., & Martin, A. E. (2013). Modeling accuracy as a function of response time with the generalized linear mixed effects model. Acta Psychologica, 144(1), 83-96. doi:10.1016/j.actpsy.2013.04.016.

    Abstract

    In psycholinguistic studies using error rates as a response measure, response times (RT) are most often analyzed independently of the error rate, although it is widely recognized that they are related. In this paper we present a mixed effects logistic regression model for the error rate that uses RT as a trial-level fixed- and random-effect regression input. Production data from a translation–recall experiment are analyzed as an example. Several model comparisons reveal that RT improves the fit of the regression model for the error rate. Two simulation studies then show how the mixed effects regression model can identify individual participants for whom (a) faster responses are more accurate, (b) faster responses are less accurate, or (c) there is no relation between speed and accuracy. These results show that this type of model can serve as a useful adjunct to traditional techniques, allowing psycholinguistic researchers to examine more closely the relationship between RT and accuracy in individual subjects and better account for the variability which may be present, as well as a preliminary step to more advanced RT–accuracy modeling.
  • Davies, C., McGillion, M., Rowland, C. F., & Matthews, D. (2020). Can inferencing be trained in preschoolers using shared book-reading? A randomised controlled trial of parents’ inference-eliciting questions on oral inferencing ability. Journal of Child Language, 47(3), 655-679. doi:10.1017/S0305000919000801.

    Abstract

    The ability to make inferences is essential for effective language comprehension. While inferencing training benefits reading comprehension in school-aged children (see Elleman, 2017, for a review), we do not yet know whether it is beneficial to support the development of these skills prior to school entry. In a pre-registered randomised controlled trial, we evaluated the efficacy of a parent-delivered intervention intended to promote four-year-olds’ oral inferencing skills during shared book-reading. One hundred children from socioeconomically diverse backgrounds were randomly assigned to inferencing training or an active control condition of daily maths activities. The training was found to have no effect on inferencing. However, inferencing measures were highly correlated with children's baseline language ability. This suggests that a more effective approach to scaffolding inferencing in the preschool years might be to focus on promoting vocabulary to develop richer and stronger semantic networks.
  • Debreslioska, S., Ozyurek, A., Gullberg, M., & Perniss, P. M. (2013). Gestural viewpoint signals referent accessibility. Discourse Processes, 50(7), 431-456. doi:10.1080/0163853x.2013.824286.

    Abstract

    The tracking of entities in discourse is known to be a bimodal phenomenon. Speakers achieve cohesion in speech by alternating between full lexical forms, pronouns, and zero anaphora as they track referents. They also track referents in co-speech gestures. In this study, we explored how viewpoint is deployed in reference tracking, focusing on representations of animate entities in German narrative discourse. We found that gestural viewpoint systematically varies depending on discourse context. Speakers predominantly use character viewpoint in maintained contexts and observer viewpoint in reintroduced contexts. Thus, gestural viewpoint seems to function as a cohesive device in narrative discourse. The findings expand on and provide further evidence for the coordination between speech and gesture on the discourse level that is crucial to understanding the tight link between the two modalities.
  • Dediu, D. (2016). A multi-layered problem. IEEE CDS Newsletter, 13, 14-15.

    Abstract

    A response to Moving Beyond Nature-Nurture: a Problem of Science or Communication? by John Spencer, Mark Blumberg and David Shenk
  • Dediu, D., & de Boer, B. (2016). Language evolution needs its own journal. Journal of Language Evolution, 1, 1-6. doi:10.1093/jole/lzv001.

    Abstract

    Interest in the origins and evolution of language has been around for as long as language has been around. However, only recently has the empirical study of language come of age. We argue that the field has sufficiently advanced that it now needs its own journal—the Journal of Language Evolution.
  • Dediu, D., & Christiansen, M. H. (2016). Language evolution: Constraints and opportunities from modern genetics. Topics in Cognitive Science, 8, 361-370. doi:10.1111/tops.12195.

    Abstract

    Our understanding of language, its origins and subsequent evolution (including language change) is shaped not only by data and theories from the language sciences, but also fundamentally by the biological sciences. Recent developments in genetics and evolutionary theory offer both very strong constraints on what scenarios of language evolution are possible and probable but also offer exciting opportunities for understanding otherwise puzzling phenomena. Due to the intrinsic breathtaking rate of advancement in these fields, the complexity, subtlety and sometimes apparent non-intuitiveness of the phenomena discovered, some of these recent developments have either being completely missed by language scientists, or misperceived and misrepresented. In this short paper, we offer an update on some of these findings and theoretical developments through a selection of illustrative examples and discussions that cast new light on current debates in the language sciences. The main message of our paper is that life is much more complex and nuanced than anybody could have predicted even a few decades ago, and that we need to be flexible in our theorizing instead of embracing a priori dogmas and trying to patch paradigms that are no longer satisfactory.
  • Dediu, D., & Levinson, S. C. (2013). On the antiquity of language: The reinterpretation of Neandertal linguistic capacities and its consequences. Frontiers in Language Sciences, 4: 397. doi:10.3389/fpsyg.2013.00397.

    Abstract

    It is usually assumed that modern language is a recent phenomenon, coinciding with the emergence of modern humans themselves. Many assume as well that this is the result of a single, sudden mutation giving rise to the full “modern package”. However, we argue here that recognizably modern language is likely an ancient feature of our genus pre-dating at least the common ancestor of modern humans and Neandertals about half a million years ago. To this end, we adduce a broad range of evidence from linguistics, genetics, palaeontology and archaeology clearly suggesting that Neandertals shared with us something like modern speech and language. This reassessment of the antiquity of modern language, from the usually quoted 50,000-100,000 years to half a million years, has profound consequences for our understanding of our own evolution in general and especially for the sciences of speech and language. As such, it argues against a saltationist scenario for the evolution of language, and towards a gradual process of culture-gene co-evolution extending to the present day. Another consequence is that the present-day linguistic diversity might better reflect the properties of the design space for language and not just the vagaries of history, and could also contain traces of the languages spoken by other human forms such as the Neandertals.
  • Dediu, D., & Cysouw, M. A. (2013). Some structural aspects of language are more stable than others: A comparison of seven methods. PLoS One, 8: e55009. doi:10.1371/journal.pone.0055009.

    Abstract

    Understanding the patterns and causes of differential structural stability is an area of major interest for the study of language change and evolution. It is still debated whether structural features have intrinsic stabilities across language families and geographic areas, or if the processes governing their rate of change are completely dependent upon the specific context of a given language or language family. We conducted an extensive literature review and selected seven different approaches to conceptualising and estimating the stability of structural linguistic features, aiming at comparing them using the same dataset, the World Atlas of Language Structures. We found that, despite profound conceptual and empirical differences between these methods, they tend to agree in classifying some structural linguistic features as being more stable than others. This suggests that there are intrinsic properties of such structural features influencing their stability across methods, language families and geographic areas. This finding is a major step towards understanding the nature of structural linguistic features and their interaction with idiosyncratic, lineage- and area-specific factors during language change and evolution.
  • Dediu, D. (2016). Typology for the masses. Linguistic typology, 20(3), 579-581. doi:10.1515/lingty-2016-0029.
  • Defina, R. (2016). Do serial verb constructions describe single events? A study of co-speech gestures in Avatime. Language, 92(4), 890-910. doi:10.1353/lan.2016.0076.

    Abstract

    Serial verb constructions have often been said to refer to single conceptual events. However, evidence to support this claim has been elusive. This article introduces co-speech gestures as a new way of investigating the relationship. The alignment patterns of gestures with serial verb constructions and other complex clauses were compared in Avatime (Ka-Togo, Kwa, Niger-Congo). Serial verb constructions tended to occur with single gestures overlapping the entire construction. In contrast, other complex clauses were more likely to be accompanied by distinct gestures overlapping individual verbs. This pattern of alignment suggests that serial verb constructions are in fact used to describe single events.

    Additional information

    https://doi.org/10.1353/lan.2016.0069
  • Defina, R. (2016). Serial verb constructions and their subtypes in Avatime. Studies in Language, 40(3), 648-680. doi:10.1075/sl.40.3.07def.
  • Dempsey, J., & Brehm, L. (2020). Can propositional biases modulate syntactic repair processes? Insights from preceding comprehension questions. Journal of Cognitive Psychology, 32(5-6), 543-552. doi:10.1080/20445911.2020.1803884.

    Abstract

    There is an ongoing debate about whether discourse biases can constrain sentence
    processing. Previous work has shown comprehension question accuracy to decrease
    for temporarily ambiguous sentences preceded by a context biasing towards an initial
    misinterpretation, suggesting a role of context for modulating comprehension.
    However, this creates limited modulation of reading times at the disambiguating word,
    suggesting initial syntactic processing may be unaffected by context [Christianson &
    Luke, 2011. Context strengthens initial misinterpretations of text. Scientific Studies of
    Reading, 15(2), 136–166]. The current experiments examine whether propositional and
    structural content from preceding comprehension questions can cue readers to expect
    certain structures in temporarily ambiguous garden-path sentences. The central finding
    is that syntactic repair processes remain unaffected while reading times in other
    regions are modulated by preceding questions. This suggests that reading strategies
    can be superficially influenced by preceding comprehension questions without
    impacting the fidelity of ultimate (mis)representations.

    Additional information

    pecp_a_1803884_sm1217.zip
  • Den Hoed, J., & Fisher, S. E. (2020). Genetic pathways involved in human speech disorders. Current Opinion in Genetics & Development, 65, 103-111. doi:10.1016/j.gde.2020.05.012.
  • den Hoed, M., Eijgelsheim, M., Esko, T., Brundel, B. J. J. M., Peal, D. S., Evans, D. M., Nolte, I. M., Segrè, A. V., Holm, H., Handsaker, R. E., Westra, H.-J., Johnson, T., Isaacs, A., Yang, J., Lundby, A., Zhao, J. H., Kim, Y. J., Go, M. J., Almgren, P., Bochud, M. and 249 moreden Hoed, M., Eijgelsheim, M., Esko, T., Brundel, B. J. J. M., Peal, D. S., Evans, D. M., Nolte, I. M., Segrè, A. V., Holm, H., Handsaker, R. E., Westra, H.-J., Johnson, T., Isaacs, A., Yang, J., Lundby, A., Zhao, J. H., Kim, Y. J., Go, M. J., Almgren, P., Bochud, M., Boucher, G., Cornelis, M. C., Gudbjartsson, D., Hadley, D., van der Harst, P., Hayward, C., den Heijer, M., Igl, W., Jackson, A. U., Kutalik, Z., Luan, J., Kemp, J. P., Kristiansson, K., Ladenvall, C., Lorentzon, M., Montasser, M. E., Njajou, O. T., O'Reilly, P. F., Padmanabhan, S., St Pourcain, B., Rankinen, T., Salo, P., Tanaka, T., Timpson, N. J., Vitart, V., Waite, L., Wheeler, W., Zhang, W., Draisma, H. H. M., Feitosa, M. F., Kerr, K. F., Lind, P. A., Mihailov, E., Onland-Moret, N. C., Song, C., Weedon, M. N., Xie, W., Yengo, L., Absher, D., Albert, C. M., Alonso, A., Arking, D. E., de Bakker, P. I. W., Balkau, B., Barlassina, C., Benaglio, P., Bis, J. C., Bouatia-Naji, N., Brage, S., Chanock, S. J., Chines, P. S., Chung, M., Darbar, D., Dina, C., Dörr, M., Elliott, P., Felix, S. B., Fischer, K., Fuchsberger, C., de Geus, E. J. C., Goyette, P., Gudnason, V., Harris, T. B., Hartikainen, A.-L., Havulinna, A. S., Heckbert, S. R., Hicks, A. A., Hofman, A., Holewijn, S., Hoogstra-Berends, F., Hottenga, J.-J., Jensen, M. K., Johansson, A., Junttila, J., Kääb, S., Kanon, B., Ketkar, S., Khaw, K.-T., Knowles, J. W., Kooner, A. S., Kors, J. A., Kumari, M., Milani, L., Laiho, P., Lakatta, E. G., Langenberg, C., Leusink, M., Liu, Y., Luben, R. N., Lunetta, K. L., Lynch, S. N., Markus, M. R. P., Marques-Vidal, P., Mateo Leach, I., McArdle, W. L., McCarroll, S. A., Medland, S. E., Miller, K. A., Montgomery, G. W., Morrison, A. C., Müller-Nurasyid, M., Navarro, P., Nelis, M., O'Connell, J. R., O'Donnell, C. J., Ong, K. K., Newman, A. B., Peters, A., Polasek, O., Pouta, A., Pramstaller, P. P., Psaty, B. M., Rao, D. C., Ring, S. M., Rossin, E. J., Rudan, D., Sanna, S., Scott, R. A., Sehmi, J. S., Sharp, S., Shin, J. T., Singleton, A. B., Smith, A. V., Soranzo, N., Spector, T. D., Stewart, C., Stringham, H. M., Tarasov, K. V., Uitterlinden, A. G., Vandenput, L., Hwang, S.-J., Whitfield, J. B., Wijmenga, C., Wild, S. H., Willemsen, G., Wilson, J. F., Witteman, J. C. M., Wong, A., Wong, Q., Jamshidi, Y., Zitting, P., Boer, J. M. A., Boomsma, D. I., Borecki, I. B., van Duijn, C. M., Ekelund, U., Forouhi, N. G., Froguel, P., Hingorani, A., Ingelsson, E., Kivimaki, M., Kronmal, R. A., Kuh, D., Lind, L., Martin, N. G., Oostra, B. A., Pedersen, N. L., Quertermous, T., Rotter, J. I., van der Schouw, Y. T., Verschuren, W. M. M., Walker, M., Albanes, D., Arnar, D. O., Assimes, T. L., Bandinelli, S., Boehnke, M., de Boer, R. A., Bouchard, C., Caulfield, W. L. M., Chambers, J. C., Curhan, G., Cusi, D., Eriksson, J., Ferrucci, L., van Gilst, W. H., Glorioso, N., de Graaf, J., Groop, L., Gyllensten, U., Hsueh, W.-C., Hu, F. B., Huikuri, H. V., Hunter, D. J., Iribarren, C., Isomaa, B., Jarvelin, M.-R., Jula, A., Kähönen, M., Kiemeney, L. A., van der Klauw, M. M., Kooner, J. S., Kraft, P., Iacoviello, L., Lehtimäki, T., Lokki, M.-L.-L., Mitchell, B. D., Navis, G., Nieminen, M. S., Ohlsson, C., Poulter, N. R., Qi, L., Raitakari, O. T., Rimm, E. B., Rioux, J. D., Rizzi, F., Rudan, I., Salomaa, V., Sever, P. S., Shields, D. C., Shuldiner, A. R., Sinisalo, J., Stanton, A. V., Stolk, R. P., Strachan, D. P., Tardif, J.-C., Thorsteinsdottir, U., Tuomilehto, J., van Veldhuisen, D. J., Virtamo, J., Viikari, J., Vollenweider, P., Waeber, G., Widen, E., Cho, Y. S., Olsen, J. V., Visscher, P. M., Willer, C., Franke, L., Erdmann, J., Thompson, J. R., Pfeufer, A., Sotoodehnia, N., Newton-Cheh, C., Ellinor, P. T., Stricker, B. H. C., Metspalu, A., Perola, M., Beckmann, J. S., Smith, G. D., Stefansson, K., Wareham, N. J., Munroe, P. B., Sibon, O. C. M., Milan, D. J., Snieder, H., Samani, N. J., Loos, R. J. F., Global BPgen Consortium, CARDIoGRAM Consortium, PR GWAS Consortium, QRS GWAS Consortium, QT-IGC Consortium, & CHARGE-AF Consortium (2013). Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. Nature Genetics, 45(6), 621-631. doi:10.1038/ng.2610.

    Abstract

    Elevated resting heart rate is associated with greater risk of cardiovascular disease and mortality. In a 2-stage meta-analysis of genome-wide association studies in up to 181,171 individuals, we identified 14 new loci associated with heart rate and confirmed associations with all 7 previously established loci. Experimental downregulation of gene expression in Drosophila melanogaster and Danio rerio identified 20 genes at 11 loci that are relevant for heart rate regulation and highlight a role for genes involved in signal transmission, embryonic cardiac development and the pathophysiology of dilated cardiomyopathy, congenital heart failure and/or sudden cardiac death. In addition, genetic susceptibility to increased heart rate is associated with altered cardiac conduction and reduced risk of sick sinus syndrome, and both heart rate-increasing and heart rate-decreasing variants associate with risk of atrial fibrillation. Our findings provide fresh insights into the mechanisms regulating heart rate and identify new therapeutic targets.
  • Deriziotis, P., & Fisher, S. E. (2013). Neurogenomics of speech and language disorders: The road ahead. Genome Biology, 14: 204. doi:10.1186/gb-2013-14-4-204.

    Abstract

    Next-generation sequencing is set to transform the discovery of genes underlying neurodevelopmental disorders, and so off er important insights into the biological bases of spoken language. Success will depend on functional assessments in neuronal cell lines, animal models and humans themselves.
  • Devaraju, K., Barnabé-Heider, F., Kokaia, Z., & Lindvall, O. (2013). FoxJ1-expressing cells contribute to neurogenesis in forebrain of adult rats: Evidence from in vivo electroporation combined with piggyBac transposon. ScienceDirect, 319(18), 2790-2800. doi:10.1016/j.yexcr.2013.08.028.

    Abstract

    Ependymal cells in the lateral ventricular wall are considered to be post-mitotic but can give rise to neuroblasts and astrocytes after stroke in adult mice due to insult-induced suppression of Notch signaling. The transcription factor FoxJ1, which has been used to characterize mouse ependymal cells, is also expressed by a subset of astrocytes. Cells expressing FoxJ1, which drives the expression of motile cilia, contribute to early postnatal neurogenesis in mouse olfactory bulb. The distribution and progeny of FoxJ1-expressing cells in rat forebrain are unknown. Here we show using immunohistochemistry that the overall majority of FoxJ1-expressing cells in the lateral ventricular wall of adult rats are ependymal cells with a minor population being astrocytes. To allow for long-term fate mapping of FoxJ1-derived cells, we used the piggyBac system for in vivo gene transfer with electroporation. Using this method, we found that FoxJ1-expressing cells, presumably the astrocytes, give rise to neuroblasts and mature neurons in the olfactory bulb both in intact and stroke-damaged brain of adult rats. No significant contribution of FoxJ1-derived cells to stroke-induced striatal neurogenesis was detected. These data indicate that in the adult rat brain, FoxJ1-expressing cells contribute to the formation of new neurons in the olfactory bulb but are not involved in the cellular repair after stroke.
  • Dias, C., Estruch, S. B., Graham, S. A., McRae, J., Sawiak, S. J., Hurst, J. A., Joss, S. K., Holder, S. E., Morton, J. E., Turner, C., Thevenon, J., Mellul, K., Sánchez-Andrade, G., Ibarra-Soria, X., Derizioti, P., Santos, R. F., Lee, S.-C., Faivre, L., Kleefstra, T., Liu, P. and 3 moreDias, C., Estruch, S. B., Graham, S. A., McRae, J., Sawiak, S. J., Hurst, J. A., Joss, S. K., Holder, S. E., Morton, J. E., Turner, C., Thevenon, J., Mellul, K., Sánchez-Andrade, G., Ibarra-Soria, X., Derizioti, P., Santos, R. F., Lee, S.-C., Faivre, L., Kleefstra, T., Liu, P., Hurles, M. E., DDD Study, Fisher, S. E., & Logan, D. W. (2016). BCL11A haploinsufficiency causes an intellectual disability syndrome and dysregulates transcription. The American Journal of Human Genetics, 99(2), 253-274. doi:10.1016/j.ajhg.2016.05.030.

    Abstract

    Intellectual disability (ID) is a common condition with considerable genetic heterogeneity. Next-generation sequencing of large cohorts has identified an increasing number of genes implicated in ID, but their roles in neurodevelopment remain largely unexplored. Here we report an ID syndrome caused by de novo heterozygous missense, nonsense, and frameshift mutations in BCL11A, encoding a transcription factor that is a putative member of the BAF swi/snf chromatin-remodeling complex. Using a comprehensive integrated approach to ID disease modeling, involving human cellular analyses coupled to mouse behavioral, neuroanatomical, and molecular phenotyping, we provide multiple lines of functional evidence for phenotypic effects. The etiological missense variants cluster in the amino-terminal region of human BCL11A, and we demonstrate that they all disrupt its localization, dimerization, and transcriptional regulatory activity, consistent with a loss of function. We show that Bcl11a haploinsufficiency in mice causes impaired cognition, abnormal social behavior, and microcephaly in accordance with the human phenotype. Furthermore, we identify shared aberrant transcriptional profiles in the cortex and hippocampus of these mouse models. Thus, our work implicates BCL11A haploinsufficiency in neurodevelopmental disorders and defines additional targets regulated by this gene, with broad relevance for our understanding of ID and related syndromes
  • Diaz, B., Mitterer, H., Broersma, M., Escara, C., & Sebastián-Gallés, N. (2016). Variability in L2 phonemic learning originates from speech-specific capabilities: An MMN study on late bilinguals. Bilingualism: Language and Cognition, 19(5), 955-970. doi:10.1017/S1366728915000450.

    Abstract

    People differ in their ability to perceive second language (L2) sounds. In early bilinguals the variability in learning L2 phonemes stems from speech-specific capabilities (Díaz, Baus, Escera, Costa & Sebastián-Gallés, 2008). The present study addresses whether speech-specific capabilities similarly explain variability in late bilinguals. Event-related potentials were recorded (using a design similar to Díaz et al., 2008) in two groups of late Dutch–English bilinguals who were good or poor in overtly discriminating the L2 English vowels /ε-æ/. The mismatch negativity, an index of discrimination sensitivity, was similar between the groups in conditions involving pure tones (of different length, frequency, and presentation order) but was attenuated in poor L2 perceivers for native, unknown, and L2 phonemes. These results suggest that variability in L2 phonemic learning originates from speech-specific capabilities and imply a continuity of L2 phonemic learning mechanisms throughout the lifespan
  • Dima, A. L., & Dediu, D. (2016). Computation of Adherence to Medications and Visualization of Medication Histories in R with AdhereR: Towards Transparent and Reproducible Use of Electronic Healthcare Data. PLoS One, 12(4): e0174426. doi:10.1371/journal.pone.0174426.

    Abstract

    Adherence to medications is an important indicator of the quality of medication management and impacts on health outcomes and cost-effectiveness of healthcare delivery. Electronic healthcare data (EHD) are increasingly used to estimate adherence in research and clinical practice, yet standardization and transparency of data processing are still a concern. Comprehensive and flexible open-source algorithms can facilitate the development of high-quality, consistent, and reproducible evidence in this field. Some EHD-based clinical decision support systems (CDSS) include visualization of medication histories, but this is rarely integrated in adherence analyses and not easily accessible for data exploration or implementation in new clinical settings. We introduce AdhereR, a package for the widely used open-source statistical environment R, designed to support researchers in computing EHD-based adherence estimates and in visualizing individual medication histories and adherence patterns. AdhereR implements a set of functions that are consistent with current adherence guidelines, definitions and operationalizations. We illustrate the use of AdhereR with an example dataset of 2-year records of 100 patients and describe the various analysis choices possible and how they can be adapted to different health conditions and types of medications. The package is freely available for use and its implementation facilitates the integration of medication history visualizations in open-source CDSS platforms.
  • Dimitrova, D. V., Chu, M., Wang, L., Ozyurek, A., & Hagoort, P. (2016). Beat that word: How listeners integrate beat gesture and focus in multimodal speech discourse. Journal of Cognitive Neuroscience, 28(9), 1255-1269. doi:10.1162/jocn_a_00963.

    Abstract

    Communication is facilitated when listeners allocate their attention to important information (focus) in the message, a process called "information structure." Linguistic cues like the preceding context and pitch accent help listeners to identify focused information. In multimodal communication, relevant information can be emphasized by nonverbal cues like beat gestures, which represent rhythmic nonmeaningful hand movements. Recent studies have found that linguistic and nonverbal attention cues are integrated independently in single sentences. However, it is possible that these two cues interact when information is embedded in context, because context allows listeners to predict what information is important. In an ERP study, we tested this hypothesis and asked listeners to view videos capturing a dialogue. In the critical sentence, focused and nonfocused words were accompanied by beat gestures, grooming hand movements, or no gestures. ERP results showed that focused words are processed more attentively than nonfocused words as reflected in an N1 and P300 component. Hand movements also captured attention and elicited a P300 component. Importantly, beat gesture and focus interacted in a late time window of 600-900 msec relative to target word onset, giving rise to a late positivity when nonfocused words were accompanied by beat gestures. Our results show that listeners integrate beat gesture with the focus of the message and that integration costs arise when beat gesture falls on nonfocused information. This suggests that beat gestures fulfill a unique focusing function in multimodal discourse processing and that they have to be integrated with the information structure of the message.
  • Dingemanse, M., Perlman, M., & Perniss, P. (2020). Construals of iconicity: Experimental approaches to form-meaning resemblances in language. Language and Cognition, 12(1), 1-14. doi:10.1017/langcog.2019.48.

    Abstract

    While speculations on form–meaning resemblances in language go back millennia, the experimental study of iconicity is only about a century old. Here we take stock of experimental work on iconicity and present a double special issue with a diverse set of new contributions. We contextualise the work by introducing a typology of approaches to iconicity in language. Some approaches construe iconicity as a discrete property that is either present or absent; others treat it as involving semiotic relationships that come in kinds; and yet others see it as a gradient substance that comes in degrees. We show the benefits and limitations that come with each of these construals and stress the importance of developing accounts that can fluently switch between them. With operationalisations of iconicity that are well defined yet flexible enough to deal with differences in tasks, modalities, and levels of analysis, experimental research on iconicity is well equipped to contribute to a comprehensive science of language.
  • Dingemanse, M. (2020). Resource-rationality beyond individual minds: The case of interactive language use. Behavioral and Brain Sciences, 43, 23-24. doi:10.1017/S0140525X19001638.

    Abstract

    Resource-rational approaches offer much promise for understanding human cognition, especially if they can reach beyond the confines of individual minds. Language allows people to transcend individual resource limitations by augmenting computation and enabling distributed cognition. Interactive language use, an environment where social rational agents routinely deal with resource constraints together, offers a natural laboratory to test resource-rationality in the wild.
  • Dingemanse, M. (2020). Between sound and speech: Liminal signs in interaction. Research on Language and Social Interaction, 53(1), 188-196. doi:10.1080/08351813.2020.1712967.

    Abstract

    When people talk, they recruit a wide range of expressive devices for interactional work, from sighs, sniffs, clicks, and whistles to other conduct that borders on the linguistic. These resources represent some of the more elusive yet no less powerful aspects of the interactional machinery as they are used in the management of turn and sequence and the marking of stance and affect. Phenomena long assumed to be beyond the purview of linguistic inquiry emerge as systematically deployed practices whose ambiguous degree of control and convention allows participants to carry out subtle interactional work without committing to specific words. While these resources have been characterised as non-lexical, non-verbal, or non-conventional, I propose they are unified in their liminality: they work well precisely because they equivocate between sound and speech. The empirical study of liminal signs shows the promise of sequential analysis for building a science of language on interactional foundations.
  • Dingemanse, M. (2020). Der Raum zwischen unseren Köpfen. Technology Review, 2020(13), 10-15.

    Abstract

    Aktuelle Vorstellungen von Gehirn-zu-Gehirn-Schnittstellen versprechen, die Sprache zu umgehen. Aber wenn wir sie verfeinern, um ihr kollaboratives Potenzial voll auszuschöpfen, sehen wir Sprache — oder zumindest ein sprachähnliches Infrastruktur für Kommunika­tion und Koordination — durch die Hintertür wieder hereinkommen. Es wäre nicht das erste Mal, dass sich die Sprache neu erfindet.

    Current conceptions of brain-to-brain interfaces attempt to bypass language. But when we refine them to more fully realise their collaborative potential we find language —or at least a language-like infrastructure for communication and coordination— slipping through the back door. It wouldn't be the first time that language reinvented itself.
  • Dingemanse, M., Kendrick, K. H., & Enfield, N. J. (2016). A Coding Scheme for Other-Initiated Repair across Languages. Open Linguistics, 2, 35-46. doi:10.1515/opli-2016-0002.

    Abstract

    We provide an annotated coding scheme for other-initiated repair, along with guidelines for building collections and aggregating cases based on interactionally relevant similarities and differences. The questions and categories of the scheme are grounded in inductive observations of conversational data and connected to a rich body of work on other-initiated repair in conversation analysis. The scheme is developed and tested in a 12-language comparative project and can serve as a stepping stone for future work on other-initiated repair and the systematic comparative study of conversational structures.
  • Dingemanse, M. (2013). Ideophones and gesture in everyday speech. Gesture, 13, 143-165. doi:10.1075/gest.13.2.02din.

    Abstract

    This article examines the relation between ideophones and gestures in a corpus of everyday discourse in Siwu, a richly ideophonic language spoken in Ghana. The overall frequency of ideophone-gesture couplings in everyday speech is lower than previously suggested, but two findings shed new light on the relation between ideophones and gesture. First, discourse type makes a difference: ideophone-gesture couplings are more frequent in narrative contexts, a finding that explains earlier claims, which were based not on everyday language use but on elicited narratives. Second, there is a particularly strong coupling between ideophones and one type of gesture: iconic gestures. This coupling allows us to better understand iconicity in relation to the affordances of meaning and modality. Ultimately, the connection between ideophones and iconic gestures is explained by reference to the depictive nature of both. Ideophone and iconic gesture are two aspects of the process of depiction
  • Dingemanse, M., Torreira, F., & Enfield, N. J. (2013). Is “Huh?” a universal word? Conversational infrastructure and the convergent evolution of linguistic items. PLoS One, 8(11): e78273. doi:10.1371/journal.pone.0078273.

    Abstract

    A word like Huh?–used as a repair initiator when, for example, one has not clearly heard what someone just said– is found in roughly the same form and function in spoken languages across the globe. We investigate it in naturally occurring conversations in ten languages and present evidence and arguments for two distinct claims: that Huh? is universal, and that it is a word. In support of the first, we show that the similarities in form and function of this interjection across languages are much greater than expected by chance. In support of the second claim we show that it is a lexical, conventionalised form that has to be learnt, unlike grunts or emotional cries. We discuss possible reasons for the cross-linguistic similarity and propose an account in terms of convergent evolution. Huh? is a universal word not because it is innate but because it is shaped by selective pressures in an interactional environment that all languages share: that of other-initiated repair. Our proposal enhances evolutionary models of language change by suggesting that conversational infrastructure can drive the convergent cultural evolution of linguistic items.
  • Dingemanse, M., & Thompson, B. (2020). Playful iconicity: Structural markedness underlies the relation between funniness and iconicity. Language and Cognition, 12(1), 203-224. doi:10.1017/langcog.2019.49.

    Abstract

    Words like ‘waddle’, ‘flop’ and ‘zigzag’ combine playful connotations with iconic form-meaning resemblances. Here we propose that structural markedness may be a common factor underlying perceptions of playfulness and iconicity. Using collected and estimated lexical ratings covering a total of over 70,000 English words, we assess the robustness of this assocation. We identify cues of phonotactic complexity that covary with funniness and iconicity ratings and that, we propose, serve as metacommunicative signals to draw attention to words as playful and performative. To assess the generalisability of the findings we develop a method to estimate lexical ratings from distributional semantics and apply it to a dataset 20 times the size of the original set of human ratings. The method can be used more generally to extend coverage of lexical ratings. We find that it reliably reproduces correlations between funniness and iconicity as well as cues of structural markedness, though it also amplifies biases present in the human ratings. Our study shows that the playful and the poetic are part of the very texture of the lexicon.
  • Dingemanse, M., Schuerman, W. L., Reinisch, E., Tufvesson, S., & Mitterer, H. (2016). What sound symbolism can and cannot do: Testing the iconicity of ideophones from five languages. Language, 92(2), e117-e133. doi:10.1353/lan.2016.0034.

    Abstract

    Sound symbolism is a phenomenon with broad relevance to the study of language and mind, but there has been a disconnect between its investigations in linguistics and psychology. This study tests the sound-symbolic potential of ideophones—words described as iconic—in an experimental task that improves over prior work in terms of ecological validity and experimental control. We presented 203 ideophones from five languages to eighty-two Dutch listeners in a binary-choice task, in four versions: original recording, full diphone resynthesis, segments-only resynthesis, and prosody-only resynthesis. Listeners guessed the meaning of all four versions above chance, confirming the iconicity of ideophones and showing the viability of speech synthesis as a way of controlling for segmental and suprasegmental properties in experimental studies of sound symbolism. The success rate was more modest than prior studies using pseudowords like bouba/kiki, implying that assumptions based on such words cannot simply be transferred to natural languages. Prosody and segments together drive the effect: neither alone is sufficient, showing that segments and prosody work together as cues supporting iconic interpretations. The findings cast doubt on attempts to ascribe iconic meanings to segments alone and support a view of ideophones as words that combine arbitrariness and iconicity.We discuss the implications for theory and methods in the empirical study of sound symbolism and iconicity.

    Additional information

    https://muse.jhu.edu/article/619540
  • Djemie, T., Weckhuysen, S., von Spiczak, S., Carvill, G. L., Jaehn, J., Anttonen, A. K., Brilstra, E., Caglayan, H. S., De Kovel, C. G. F., Depienne, C., Gaily, E., Gennaro, E., Giraldez, B. G., Gormley, P., Guerrero-Lopez, R., Guerrini, R., Hamalainen, E., Hartmann, `., Hernandez-Hernandez, L., Hjalgrim, H. and 26 moreDjemie, T., Weckhuysen, S., von Spiczak, S., Carvill, G. L., Jaehn, J., Anttonen, A. K., Brilstra, E., Caglayan, H. S., De Kovel, C. G. F., Depienne, C., Gaily, E., Gennaro, E., Giraldez, B. G., Gormley, P., Guerrero-Lopez, R., Guerrini, R., Hamalainen, E., Hartmann, `., Hernandez-Hernandez, L., Hjalgrim, H., Koeleman, B. P., Leguern, E., Lehesjoki, A. E., Lemke, J. R., Leu, C., Marini, C., McMahon, J. M., Mei, D., Moller, R. S., Muhle, H., Myers, C. T., Nava, C., Serratosa, J. M., Sisodiya, S. M., Stephani, U., Striano, P., van Kempen, M. J., Verbeek, N. E., Usluer, S., Zara, F., Palotie, A., Mefford, H. C., Scheffer, I. E., De Jonghe, P., Helbig, I., & Suls, A. (2016). Pitfalls in genetic testing: the story of missed SCN1A mutations. Molecular Genetics & Genomic Medicine, 4(4), 457-64. doi:10.1002/mgg3.217.

    Abstract

    Background Sanger sequencing, still the standard technique for genetic testing in most diagnostic laboratories and until recently widely used in research, is gradually being complemented by next-generation sequencing (NGS). No single mutation detection technique is however perfect in identifying all mutations. Therefore, we wondered to what extent inconsistencies between Sanger sequencing and NGS affect the molecular diagnosis of patients. Since mutations in SCN1A, the major gene implicated in epilepsy, are found in the majority of Dravet syndrome (DS) patients, we focused on missed SCN1A mutations. Methods We sent out a survey to 16 genetic centers performing SCN1A testing. Results We collected data on 28 mutations initially missed using Sanger sequencing. All patients were falsely reported as SCN1A mutation-negative, both due to technical limitations and human errors. Conclusion We illustrate the pitfalls of Sanger sequencing and most importantly provide evidence that SCN1A mutations are an even more frequent cause of DS than already anticipated.
  • Dolscheid, S., Çelik, S., Erkan, H., Küntay, A., & Majid, A. (2020). Space-pitch associations differ in their susceptibility to language. Cognition, 196: 104073. doi:10.1016/j.cognition.2019.104073.

    Abstract

    To what extent are links between musical pitch and space universal, and to what extent are they shaped by
    language? There is contradictory evidence in support of both universality and linguistic relativity presently,
    leaving the question open. To address this, speakers of Dutch who talk about pitch in terms of spatial height and
    speakers of Turkish who use a thickness metaphor were tested in simple nonlinguistic space-pitch association
    tasks. Both groups showed evidence of a thickness-pitch association, but differed significantly in their heightpitch
    associations, suggesting the latter may be more susceptible to language. When participants had to match
    pitches to spatial stimuli where height and thickness were opposed (i.e., a thick line high in space vs. a thin line
    low in space), Dutch and Turkish differed in their relative preferences. Whereas Turkish participants predominantly
    opted for a thickness-pitch interpretation—even if this meant a reversal of height-pitch
    mappings—Dutch participants favored a height-pitch interpretation more often. These findings provide new
    evidence that speakers of different languages vary in their space-pitch associations, while at the same time
    showing such associations are not equally susceptible to linguistic influences. Some space-pitch (i.e., heightpitch)
    associations are more malleable than others (i.e., thickness-pitch).
  • Dolscheid, S., Shayan, S., Majid, A., & Casasanto, D. (2013). The thickness of musical pitch: Psychophysical evidence for linguistic relativity. Psychological Science, 24, 613-621. doi:10.1177/0956797612457374.

    Abstract

    Do people who speak different languages think differently, even when they are not using language? To find out, we used nonlinguistic psychophysical tasks to compare mental representations of musical pitch in native speakers of Dutch and Farsi. Dutch speakers describe pitches as high (hoog) or low (laag), whereas Farsi speakers describe pitches as thin (na-zok) or thick (koloft). Differences in language were reflected in differences in performance on two pitch-reproduction tasks, even though the tasks used simple, nonlinguistic stimuli and responses. To test whether experience using language influences mental representations of pitch, we trained native Dutch speakers to describe pitch in terms of thickness, as Farsi speakers do. After the training, Dutch speakers’ performance on a nonlinguistic psychophysical task resembled the performance of native Farsi speakers. People who use different linguistic space-pitch metaphors also think about pitch differently. Language can play a causal role in shaping nonlinguistic representations of musical pitch.

    Additional information

    DS_10.1177_0956797612457374.pdf
  • Donnelly, S., & Kidd, E. (2020). Individual differences in lexical processing efficiency and vocabulary in toddlers: A longitudinal investigation. Journal of Experimental Child Psychology, 192: 104781. doi:10.1016/j.jecp.2019.104781.

    Abstract

    Research on infants’ online lexical processing by Fernald, Perfors, and Marchman (2006) revealed substantial individual differences that are related to vocabulary development, such that infants with better lexical processing efficiency show greater vocabulary growth across time. Although it is clear that individual differences in lexical processing efficiency exist and are meaningful, the theoretical nature of lexical processing efficiency and its relation to vocabulary size is less clear. In the current study, we asked two questions: (a) Is lexical processing efficiency better conceptualized as a central processing capacity or as an emergent capacity reflecting a collection of word-specific capacities? and (b) Is there evidence for a causal role for lexical processing efficiency in early vocabulary development? In the study, 120 infants were tested on a measure of lexical processing at 18, 21, and 24 months, and their vocabulary was measured via parent report. Structural equation modeling of the 18-month time point data revealed that both theoretical constructs represented in the first question above (a) fit the data. A set of regression analyses on the longitudinal data revealed little evidence for a causal effect of lexical processing on vocabulary but revealed a significant effect of vocabulary size on lexical processing efficiency early in development. Overall, the results suggest that lexical processing efficiency is a stable construct in infancy that may reflect the structure of the developing lexicon.
  • Doust, C., Gordon, S. D., Garden, N., Fisher, S. E., Martin, N. G., Bates, T. C., & Luciano, M. (2020). The association of dyslexia and developmental speech and language disorder candidate genes with reading and language abilities in adults. Twin Research and Human Genetics, 23(1), 22-32. doi:10.1017/thg.2020.7.

    Abstract

    Reading and language abilities are critical for educational achievement and success in adulthood. Variation in these traits is highly heritable, but the underlying genetic architecture is largely undiscovered. Genetic studies of reading and language skills traditionally focus on children with developmental disorders; however, much larger unselected adult samples are available, increasing power to identify associations with specific genetic variants of small effect size. We introduce an Australian adult population cohort (41.7–73.2 years of age, N = 1505) in which we obtained data using validated measures of several aspects of reading and language abilities. We performed genetic association analysis for a reading and spelling composite score, nonword reading (assessing phonological processing: a core component in learning to read), phonetic spelling, self-reported reading impairment and nonword repetition (a marker of language ability). Given the limited power in a sample of this size (~80% power to find a minimum effect size of 0.005), we focused on analyzing candidate genes that have been associated with dyslexia and developmental speech and language disorders in prior studies. In gene-based tests, FOXP2, a gene implicated in speech/language disorders, was associated with nonword repetition (p < .001), phonetic spelling (p = .002) and the reading and spelling composite score (p < .001). Gene-set analyses of candidate dyslexia and speech/language disorder genes were not significant. These findings contribute to the assessment of genetic associations in reading and language disorders, crucial for understanding their etiology and informing intervention strategies, and validate the approach of using unselected adult samples for gene discovery in language and reading.

    Additional information

    Supplementary materials
  • Dowell, C., Hajnal, A., Pouw, W., & Wagman, J. B. (2020). Visual and haptic perception of affordances of feelies. Perception, 49(9), 905-925. doi:10.1177/0301006620946532.

    Abstract

    Most objects have well-defined affordances. Investigating perception of affordances of objects that were not created for a specific purpose would provide insight into how affordances are perceived. In addition, comparison of perception of affordances for such objects across different exploratory modalities (visual vs. haptic) would offer a strong test of the lawfulness of information about affordances (i.e., the invariance of such information over transformation). Along these lines, “feelies”— objects created by Gibson with no obvious function and unlike any common object—could shed light on the processes underlying affordance perception. This study showed that when observers reported potential uses for feelies, modality significantly influenced what kind of affordances were perceived. Specifically, visual exploration resulted in more noun labels (e.g., “toy”) than haptic exploration which resulted in more verb labels (i.e., “throw”). These results suggested that overlapping, but distinct classes of action possibilities are perceivable using vision and haptics. Semantic network analyses revealed that visual exploration resulted in object-oriented responses focused on object identification, whereas haptic exploration resulted in action-oriented responses. Cluster analyses confirmed these results. Affordance labels produced in the visual condition were more consistent, used fewer descriptors, were less diverse, but more novel than in the haptic condition.
  • Drenth, P., Levelt, W. J. M., & Noort, E. (2013). Rejoinder to commentary on the Stapel-fraud report. The Psychologist, 26(2), 81.

    Abstract

    The Levelt, Noort and Drenth Committees make their sole and final rejoinder to criticisms of their report on the Stapel fraud
  • Drijvers, L., Mulder, K., & Ernestus, M. (2016). Alpha and gamma band oscillations index differential processing of acoustically reduced and full forms. Brain and Language, 153-154, 27-37. doi:10.1016/j.bandl.2016.01.003.

    Abstract

    Reduced forms like yeshay for yesterday often occur in conversations. Previous behavioral research reported a processing advantage for full over reduced forms. The present study investigated whether this processing advantage is reflected in a modulation of alpha (8–12 Hz) and gamma (30+ Hz) band activity. In three electrophysiological experiments, participants listened to full and reduced forms in isolation (Experiment 1), sentence-final position (Experiment 2), or mid-sentence position (Experiment 3). Alpha power was larger in response to reduced forms than to full forms, but only in Experiments 1 and 2. We interpret these increases in alpha power as reflections of higher auditory cognitive load. In all experiments, gamma power only increased in response to full forms, which we interpret as showing that lexical activation spreads more quickly through the semantic network for full than for reduced forms. These results confirm a processing advantage for full forms, especially in non-medial sentence position.
  • Drijvers, L., & Ozyurek, A. (2020). Non-native listeners benefit less from gestures and visible speech than native listeners during degraded speech comprehension. Language and Speech, 63(2), 209-220. doi:10.1177/0023830919831311.

    Abstract

    Native listeners benefit from both visible speech and iconic gestures to enhance degraded speech comprehension (Drijvers & Ozyürek, 2017). We tested how highly proficient non-native listeners benefit from these visual articulators compared to native listeners. We presented videos of an actress uttering a verb in clear, moderately, or severely degraded speech, while her lips were blurred, visible, or visible and accompanied by a gesture. Our results revealed that unlike native listeners, non-native listeners were less likely to benefit from the combined enhancement of visible speech and gestures, especially since the benefit from visible speech was minimal when the signal quality was not sufficient.
  • Drozdova, P., Van Hout, R., & Scharenborg, O. (2016). Lexically-guided perceptual learning in non-native listening. Bilingualism: Language and Cognition, 19(5), 914-920. doi:10.1017/S136672891600002X.

    Abstract

    There is ample evidence that native and non-native listeners use lexical knowledge to retune their native phonetic categories following ambiguous pronunciations. The present study investigates whether a non-native ambiguous sound can retune non-native phonetic categories. After a brief exposure to an ambiguous British English [l/ɹ] sound, Dutch listeners demonstrated retuning. This retuning was, however, asymmetrical: the non-native listeners seemed to show (more) retuning of the /ɹ/ category than of the /l/ category, suggesting that non-native listeners can retune non-native phonetic categories. This asymmetry is argued to be related to the large phonetic variability of /r/ in both Dutch and English.
  • Dunn, M., Kruspe, N., & Burenhult, N. (2013). Time and place in the prehistory of the Aslian languages. Human Biology, 85, 383-399.

    Abstract

    The Aslian branch of Austroasiatic is recognised as the oldest recoverable language family in the Malay Peninsula, predating the now dominant Austronesian languages present today. In this paper we address the dynamics of the prehistoric spread of Aslian languages across the peninsula, including the languages spoken by Semang foragers, traditionally associated with the 'Negrito' phenotype. The received view of an early and uniform tripartite break-up of proto-Aslian in the Early Neolithic period, and subsequent differentiation driven by societal modes is challenged. We present a Bayesian phylogeographic analysis of our dataset of vocabulary from 28 Aslian varieties. An explicit geographic model of diffusion is combined with a cognate birth-word death model of lexical evolution to infer the location of the major events of Aslian cladogenesis. The resultant phylogenetic trees are calibrated against dates in the historical and archaeological record to extrapolate a detailed picture of Aslian language history. We conclude that a binary split between Southern Aslian and the rest of Aslian took place in the Early Neolithic (4000 BP). This was followed much later in the Late Neolithic (2000-3000 BP) by a tripartite branching into Central Aslian, Jah Hut and Northern Aslian. Subsequent internal divisions within these sub-clades took place in the Early Metal Phase (post-2000 BP). Significantly, a split in Northern Aslian between Ceq Wong and the languages of the Semang was a late development and is proposed here to coincide with the adoption of Aslian by the Semang foragers. Given the difficulties involved in associating archaeologically recorded activities with linguistic events, as well as the lack of historical sources, our results remain preliminary. However, they provide sufficient evidence to prompt a rethinking of previous models of both clado- and ethno-genesis within the Malay Peninsula.
  • Edlinger, G., Bastiaansen, M. C. M., Brunia, C., Neuper, C., & Pfurtscheller, G. (1999). Cortical oscillatory activity assessed by combined EEG and MEG recordings and high resolution ERD methods. Biomedizinische Technik, 44(2), 131-134.
  • Edmunds, R., L'Hours, H., Rickards, L., Trilsbeek, P., Vardigan, M., & Mokrane, M. (2016). Core trustworthy data repositories requirements. Zenodo, 168411. doi:10.5281/zenodo.168411.

    Abstract

    The Core Trustworthy Data Repository Requirements were developed by the DSA–WDS Partnership Working Group on Repository Audit and Certification, a Working Group (WG) of the Research Data Alliance . The goal of the effort was to create a set of harmonized common requirements for certification of repositories at the core level, drawing from criteria already put in place by the Data Seal of Approval (DSA: www.datasealofapproval.org) and the ICSU World Data System (ICSU-WDS: https://www.icsu-wds.org/services/certification). An additional goal of the project was to develop common procedures to be implemented by both DSA and ICSU-WDS. Ultimately, the DSA and ICSU-WDS plan to collaborate on a global framework for repository certification that moves from the core to the extended (nestor-Seal DIN 31644), to the formal (ISO 16363) level.
  • Eekhof, L. S., Van Krieken, K., & Sanders, J. (2020). VPIP: A lexical identification procedure for perceptual, cognitive, and emotional viewpoint in narrative discourse. Open Library of Humanities, 6(1): 18. doi:10.16995/olh.483.

    Abstract

    Although previous work on viewpoint techniques has shown that viewpoint is ubiquitous in narrative discourse, approaches to identify and analyze the linguistic manifestations of viewpoint are currently scattered over different disciplines and dominated by qualitative methods. This article presents the ViewPoint Identification Procedure (VPIP), the first systematic method for the lexical identification of markers of perceptual, cognitive and emotional viewpoint in narrative discourse. Use of this step-wise procedure is facilitated by a large appendix of Dutch viewpoint markers. After the introduction of the procedure and discussion of some special cases, we demonstrate its application by discussing three types of narrative excerpts: a literary narrative, a news narrative, and an oral narrative. Applying the identification procedure to the full news narrative, we show that the VPIP can be reliably used to detect viewpoint markers in long stretches of narrative discourse. As such, the systematic identification of viewpoint has the potential to benefit both established viewpoint scholars and researchers from other fields interested in the analytical and experimental study of narrative and viewpoint. Such experimental studies could complement qualitative studies, ultimately advancing our theoretical understanding of the relation between the linguistic presentation and cognitive processing of viewpoint. Suggestions for elaboration of the VPIP, particularly in the realm of pragmatic viewpoint marking, are formulated in the final part of the paper.

    Additional information

    appendix
  • Egger, J., Rowland, C. F., & Bergmann, C. (2020). Improving the robustness of infant lexical processing speed measures. Behavior Research Methods, 52, 2188-2201. doi:10.3758/s13428-020-01385-5.

    Abstract

    Visual reaction times to target pictures after naming events are an informative measurement in language acquisition research, because gaze shifts measured in looking-while-listening paradigms are an indicator of infants’ lexical speed of processing. This measure is very useful, as it can be applied from a young age onwards and has been linked to later language development. However, to obtain valid reaction times, the infant is required to switch the fixation of their eyes from a distractor to a target object. This means that usually at least half the trials have to be discarded—those where the participant is already fixating the target at the onset of the target word—so that no reaction time can be measured. With few trials, reliability suffers, which is especially problematic when studying individual differences. In order to solve this problem, we developed a gaze-triggered looking-while-listening paradigm. The trials do not differ from the original paradigm apart from the fact that the target object is chosen depending on the infant’s eye fixation before naming. The object the infant is looking at becomes the distractor and the other object is used as the target, requiring a fixation switch, and thus providing a reaction time. We tested our paradigm with forty-three 18-month-old infants, comparing the results to those from the original paradigm. The Gaze-triggered paradigm yielded more valid reaction time trials, as anticipated. The results of a ranked correlation between the conditions confirmed that the manipulated paradigm measures the same concept as the original paradigm.
  • Eicher, J. D., Powers, N. R., Miller, L. L., Akshoomoff, N., Amaral, D. G., Bloss, C. S., Libiger, O., Schork, N. J., Darst, B. F., Casey, B. J., Chang, L., Ernst, T., Frazier, J., Kaufmann, W. E., Keating, B., Kenet, T., Kennedy, D., Mostofsky, S., Murray, S. S., Sowell, E. R. and 11 moreEicher, J. D., Powers, N. R., Miller, L. L., Akshoomoff, N., Amaral, D. G., Bloss, C. S., Libiger, O., Schork, N. J., Darst, B. F., Casey, B. J., Chang, L., Ernst, T., Frazier, J., Kaufmann, W. E., Keating, B., Kenet, T., Kennedy, D., Mostofsky, S., Murray, S. S., Sowell, E. R., Bartsch, H., Kuperman, J. M., Brown, T. T., Hagler, D. J., Dale, A. M., Jernigan, T. L., St Pourcain, B., Davey Smith, G., Ring, S. M., Gruen, J. R., & Pediatric Imaging, Neurocognition, and Genetics Study (2013). Genome-wide association study of shared components of reading disability and language impairment. Genes, Brain and Behavior, 12(8), 792-801. doi:10.1111/gbb.12085.

    Abstract

    Written and verbal languages are neurobehavioral traits vital to the development of communication skills. Unfortunately, disorders involving these traits-specifically reading disability (RD) and language impairment (LI)-are common and prevent affected individuals from developing adequate communication skills, leaving them at risk for adverse academic, socioeconomic and psychiatric outcomes. Both RD and LI are complex traits that frequently co-occur, leading us to hypothesize that these disorders share genetic etiologies. To test this, we performed a genome-wide association study on individuals affected with both RD and LI in the Avon Longitudinal Study of Parents and Children. The strongest associations were seen with markers in ZNF385D (OR = 1.81, P = 5.45 × 10(-7) ) and COL4A2 (OR = 1.71, P = 7.59 × 10(-7) ). Markers within NDST4 showed the strongest associations with LI individually (OR = 1.827, P = 1.40 × 10(-7) ). We replicated association of ZNF385D using receptive vocabulary measures in the Pediatric Imaging Neurocognitive Genetics study (P = 0.00245). We then used diffusion tensor imaging fiber tract volume data on 16 fiber tracts to examine the implications of replicated markers. ZNF385D was a predictor of overall fiber tract volumes in both hemispheres, as well as global brain volume. Here, we present evidence for ZNF385D as a candidate gene for RD and LI. The implication of transcription factor ZNF385D in RD and LI underscores the importance of transcriptional regulation in the development of higher order neurocognitive traits. Further study is necessary to discern target genes of ZNF385D and how it functions within neural development of fluent language.
  • Eielts, C., Pouw, W., Ouwehand, K., Van Gog, T., Zwaan, R. A., & Paas, F. (2020). Co-thought gesturing supports more complex problem solving in subjects with lower visual working-memory capacity. Psychological Research, 84, 502-513. doi:10.1007/s00426-018-1065-9.

    Abstract

    During silent problem solving, hand gestures arise that have no communicative intent. The role of such co-thought gestures in
    cognition has been understudied in cognitive research as compared to co-speech gestures. We investigated whether gesticulation
    during silent problem solving supported subsequent performance in a Tower of Hanoi problem-solving task, in relation
    to visual working-memory capacity and task complexity. Seventy-six participants were assigned to either an instructed gesture
    condition or a condition that allowed them to gesture, but without explicit instructions to do so. This resulted in three
    gesture groups: (1) non-gesturing; (2) spontaneous gesturing; (3) instructed gesturing. In line with the embedded/extended
    cognition perspective on gesture, gesturing benefited complex problem-solving performance for participants with a lower
    visual working-memory capacity, but not for participants with a lower spatial working-memory capacity.
  • Eijk, L., Fletcher, A., McAuliffe, M., & Janse, E. (2020). The effects of word frequency and word probability on speech rhythm in dysarthria. Journal of Speech, Language, and Hearing Research, 63, 2833-2845. doi:10.1044/2020_JSLHR-19-00389.

    Abstract

    Purpose

    In healthy speakers, the more frequent and probable a word is in its context, the shorter the word tends to be. This study investigated whether these probabilistic effects were similarly sized for speakers with dysarthria of different severities.
    Method

    Fifty-six speakers of New Zealand English (42 speakers with dysarthria and 14 healthy speakers) were recorded reading the Grandfather Passage. Measurements of word duration, frequency, and transitional word probability were taken.
    Results

    As hypothesized, words with a higher frequency and probability tended to be shorter in duration. There was also a significant interaction between word frequency and speech severity. This indicated that the more severe the dysarthria, the smaller the effects of word frequency on speakers' word durations. Transitional word probability also interacted with speech severity, but did not account for significant unique variance in the full model.
    Conclusions

    These results suggest that, as the severity of dysarthria increases, the duration of words is less affected by probabilistic variables. These findings may be due to reductions in the control and execution of muscle movement exhibited by speakers with dysarthria.
  • Eising, E., A Datson, N., van den Maagdenberg, A. M., & Ferrari, M. D. (2013). Epigenetic mechanisms in migraine: a promising avenue? BMC Medicine, 11(1): 26. doi:10.1186/1741-7015-11-26.

    Abstract

    Migraine is a disabling common brain disorder typically characterized by attacks of severe headache and associated with autonomic and neurological symptoms. Its etiology is far from resolved. This review will focus on evidence that epigenetic mechanisms play an important role in disease etiology. Epigenetics comprise both DNA methylation and post-translational modifications of the tails of histone proteins, affecting chromatin structure and gene expression. Besides playing a role in establishing cellular and developmental stage-specific regulation of gene expression, epigenetic processes are also important for programming lasting cellular responses to environmental signals. Epigenetic mechanisms may explain how non-genetic endogenous and exogenous factors such as female sex hormones, stress hormones and inflammation trigger may modulate attack frequency. Developing drugs that specifically target epigenetic mechanisms may open up exciting new avenues for the prophylactic treatment of migraine.
  • Eising, E., Huisman, S. M., Mahfouz, A., Vijfhuizen, L. S., Anttila, V., Winsvold, B. S., Kurth, T., Ikram, M. A., Freilinger, T., Kaprio, J., Boomsma, D. I., van Duijn, C. M., Järvelin, M.-R.-R., Zwart, J.-A., Quaye, L., Strachan, D. P., Kubisch, C., Dichgans, M., Davey Smith, G., Stefansson, K. and 9 moreEising, E., Huisman, S. M., Mahfouz, A., Vijfhuizen, L. S., Anttila, V., Winsvold, B. S., Kurth, T., Ikram, M. A., Freilinger, T., Kaprio, J., Boomsma, D. I., van Duijn, C. M., Järvelin, M.-R.-R., Zwart, J.-A., Quaye, L., Strachan, D. P., Kubisch, C., Dichgans, M., Davey Smith, G., Stefansson, K., Palotie, A., Chasman, D. I., Ferrari, M. D., Terwindt, G. M., de Vries, B., Nyholt, D. R., Lelieveldt, B. P., van den Maagdenberg, A. M., & Reinders, M. J. (2016). Gene co‑expression analysis identifies brain regions and cell types involved in migraine pathophysiology: a GWAS‑based study using the Allen Human Brain Atlas. Human Genetics, 135(4), 425-439. doi:10.1007/s00439-016-1638-x.

    Abstract

    Migraine is a common disabling neurovascular brain disorder typically characterised by attacks of severe headache and associated with autonomic and neurological symptoms. Migraine is caused by an interplay of genetic and environmental factors. Genome-wide association studies (GWAS) have identified over a dozen genetic loci associated with migraine. Here, we integrated migraine GWAS data with high-resolution spatial gene expression data of normal adult brains from the Allen Human Brain Atlas to identify specific brain regions and molecular pathways that are possibly involved in migraine pathophysiology. To this end, we used two complementary methods. In GWAS data from 23,285 migraine cases and 95,425 controls, we first studied modules of co-expressed genes that were calculated based on human brain expression data for enrichment of genes that showed association with migraine. Enrichment of a migraine GWAS signal was found for five modules that suggest involvement in migraine pathophysiology of: (i) neurotransmission, protein catabolism and mitochondria in the cortex; (ii) transcription regulation in the cortex and cerebellum; and (iii) oligodendrocytes and mitochondria in subcortical areas. Second, we used the high-confidence genes from the migraine GWAS as a basis to construct local migraine-related co-expression gene networks. Signatures of all brain regions and pathways that were prominent in the first method also surfaced in the second method, thus providing support that these brain regions and pathways are indeed involved in migraine pathophysiology.
  • Eising, E., De Leeuw, C., Min, J. L., Anttila, V., Verheijen, M. H. G., Terwindt, G. M., Dichgans, M., Freilinger, T., Kubisch, C., Ferrari, M. D., Smit, A. B., De Vries, B., Palotie, A., Van Den Maagdenberg, A. M. J. M., & Posthuma, D. (2016). Involvement of astrocyte and oligodendrocyte gene sets in migraine. Cephalalgia, 36(7), 640-647. doi:10.1177/0333102415618614.

    Abstract

    Migraine is a common episodic brain disorder characterized by recurrent attacks of severe unilateral headache and additional neurological symptoms. Two main migraine types can be distinguished based on the presence of aura symptoms that can accompany the headache: migraine with aura and migraine without aura. Multiple genetic and environmental factors confer disease susceptibility. Recent genome-wide association studies (GWAS) indicate that migraine susceptibility genes are involved in various pathways, including neurotransmission, which have already been implicated in genetic studies of monogenic familial hemiplegic migraine, a subtype of migraine with aura. Methods To further explore the genetic background of migraine, we performed a gene set analysis of migraine GWAS data of 4954 clinic-based patients with migraine, as well as 13,390 controls. Curated sets of synaptic genes and sets of genes predominantly expressed in three glial cell types (astrocytes, microglia and oligodendrocytes) were investigated. Discussion Our results show that gene sets containing astrocyte- and oligodendrocyte-related genes are associated with migraine, which is especially true for gene sets involved in protein modification and signal transduction. Observed differences between migraine with aura and migraine without aura indicate that both migraine types, at least in part, seem to have a different genetic background.

Share this page