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  • Brucato, N., Tortevoye, P., Plancoulaine, S., Guitard, E., Sanchez-Mazas, A., Larrouy, G., Gessain, A., & Dugoujon, J.-M. (2009). The genetic diversity of three peculiar populations descending from the slave trade: Gm study of Noir Marron from French Guiana. Comptes Rendus Biologies, 332(10), 917-926. doi:10.1016/j.crvi.2009.07.005.

    Abstract

    The Noir Marron communities are the direct descendants of African slaves brought to the Guianas during the four centuries (16th to 19th) of the Atlantic slave trade. Among them, three major ethnic groups have been studied: the Aluku, the Ndjuka and the Saramaka. Their history led them to share close relationships with Europeans and Amerindians, as largely documented in their cultural records. The study of Gm polymorphisms of immunoglobulins may help to estimate the amount of gene flow linked to these cultural exchanges. Surprisingly, very low levels of European contribution (2.6%) and Amerindian contribution (1.7%) are detected in the Noir Marron gene pool. On the other hand, an African contribution of 95.7% redraws their origin to West Africa (FSTless-than-or-equals, slant0.15). This highly preserved African gene pool of the Noir Marron is unique in comparison to other African American populations of Latin America, who are notably more admixed

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  • Brucato, N., Mazières, S., Guitard, E., Giscard, P.-H., Bois, É., Larrouy, G., & Dugoujon, J.-M. (2012). The Hmong diaspora: Preserved South-East Asian genetic ancestry in French Guianese Asians. Comptes Rendus Biologies, 335, 698-707. doi:10.1016/j.crvi.2012.10.003.

    Abstract

    The Hmong Diaspora is one of the widest modern human migrations. Mainly localised in South-East Asia, the United States of America, and metropolitan France, a small community has also settled the Amazonian forest of French Guiana. We have biologically analysed 62 individuals of this unique Guianese population through three complementary genetic markers: mitochondrial DNA (HVS-I/II and coding region SNPs), Y-chromosome (SNPs and STRs), and the Gm allotypic system. All genetic systems showed a high conservation of the Asian gene pool (Asian ancestry: mtDNA = 100.0%; NRY = 99.1%; Gm = 96.6%), without a trace of founder effect. When compared across various Asian populations, the highest correlations were observed with Hmong-Mien groups still living in South-East Asia (Fst < 0.05; P-value < 0.05). Despite a long history punctuated by exodus, the French Guianese Hmong have maintained their original genetic diversity.
  • Burenhult, N. (2009). [Commentary on M. Meschiari, 'Roots of the savage mind: Apophenia and imagination as cognitive process']. Quaderni di semantica, 30(2), 239-242. doi:10.1400/127893.
  • Burenhult, N., & Wegener, C. (2009). Preliminary notes on the phonology, orthography and vocabulary of Semnam (Austroasiatic, Malay Peninsula). Journal of the Southeast Asian Linguistics Society, 1, 283-312. Retrieved from http://www.jseals.org/.

    Abstract

    This paper reports tentatively some features of Semnam, a Central Aslian language spoken by some 250 people in the Perak valley, Peninsular Malaysia. It outlines the unusually rich phonemic system of this hitherto undescribed language (e.g. a vowel system comprising 36 distinctive nuclei), and proposes a practical orthography for it. It also includes the c. 1,250- item wordlist on which the analysis is based, collected intermittently in the field 2006-2008.
  • Burgers, N., Ettema, D. F., Hooimeijer, P., & Barendse, M. T. (2021). The effects of neighbours on sport club membership. European Journal for Sport and Society, 18(4), 310-325. doi:10.1080/16138171.2020.1840710.

    Abstract

    Neighbours have been found to influence each other’s behaviour (contagion effect). However, little is known about the influence on sport club membership. This while increasing interest has risen for the social role of sport clubs. Sport clubs could bring people from different backgrounds together. A mixed composition is a key element in this social role. Individual characteristics are strong predictors of sport club membership. Western high educated men are more likely to be members. In contrast to people with a non-Western migration background. The neighbourhood is a more fixed meeting place, which provides unique opportunities for people from different backgrounds to interact. This study aims to gain more insight into the influence of neighbours on sport club membership. This research looks especially at the composition of neighbour’s migration background, since they tend to be more or less likely to be members and therefore could encourage of inhibit each other. A population database including the only registry data of all Dutch inhabitants was merged with data of 11 sport unions. The results show a cross-level effect of neighbours on sport club membership. We find a contagion effect of neighbours’ migration background; having a larger proportion of neighbours with a migration background from a non-Western country reduces the odds, as expected. However, this contagion effect was not found for people with a Moroccan or Turkish background.
  • Buzon, V., Carbo, L. R., Estruch, S. B., Fletterick, R. J., & Estebanez-Perpina, E. (2012). A conserved surface on the ligand binding domain of nuclear receptors for allosteric control. Molecular and Cellular Endocrinology, 348(2), 394-402. doi:10.1016/j.mce.2011.08.012.

    Abstract

    Nuclear receptors (NRs) form a large superfamily of transcription factors that participate in virtually every key biological process. They control development, fertility, gametogenesis and are misregulated in many cancers. Their enormous functional plasticity as transcription factors relates in part to NR-mediated interactions with hundreds of coregulatory proteins upon ligand (e.g., hormone) binding to their ligand binding domains (LBD), or following covalent modification. Some coregulator association relates to the distinct residues that shape a coactivator binding pocket termed AF-2, a surface groove that primarily determines the preference and specificity of protein–protein interactions. However, the highly conserved AF-2 pocket in the NR superfamily appears to be insufficient to account for NR subtype specificity leading to fine transcriptional modulation in certain settings. Additional protein–protein interaction surfaces, most notably on their LBD, may contribute to modulating NR function. NR coregulators and chaperones, normally much larger than the NR itself, may also bind to such interfaces. In the case of the androgen receptor (AR) LBD surface, structural and functional data highlighted the presence of another site named BF-3, which lies at a distinct but topographically adjacent surface to AF-2. AR BF-3 is a hot spot for mutations involved in prostate cancer and androgen insensitivity syndromes, and some FDA-approved drugs bind at this site. Structural studies suggested an allosteric relationship between AF-2 and BF-3, as occupancy of the latter affected coactivator recruitment to AF-2. Physiological relevant partners of AR BF-3 have not been described as yet. The newly discovered site is highly conserved among the steroid receptors subclass, but is also present in other NRs. Several missense mutations in the BF-3 regions of these human NRs are implicated in pathology and affect their function in vitro. The fact that AR BF-3 pocket is a druggable site evidences its pharmacological potential. Compounds that may affect allosterically NR function by binding to BF-3 open promising avenues to develop type-specific NR modulators.

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  • Byers-Heinlein, K., Tsui, A. S. M., Bergmann, C., Black, A. K., Brown, A., Carbajal, M. J., Durrant, S., Fennell, C. T., Fiévet, A.-C., Frank, M. C., Gampe, A., Gervain, J., Gonzalez-Gomez, N., Hamlin, J. K., Havron, N., Hernik, M., Kerr, S., Killam, H., Klassen, K., Kosie, J. and 18 moreByers-Heinlein, K., Tsui, A. S. M., Bergmann, C., Black, A. K., Brown, A., Carbajal, M. J., Durrant, S., Fennell, C. T., Fiévet, A.-C., Frank, M. C., Gampe, A., Gervain, J., Gonzalez-Gomez, N., Hamlin, J. K., Havron, N., Hernik, M., Kerr, S., Killam, H., Klassen, K., Kosie, J., Kovács, Á. M., Lew-Williams, C., Liu, L., Mani, N., Marino, C., Mastroberardino, M., Mateu, V., Noble, C., Orena, A. J., Polka, L., Potter, C. E., Schreiner, M., Singh, L., Soderstrom, M., Sundara, M., Waddell, C., Werker, J. F., & Wermelinger, S. (2021). A multilab study of bilingual infants: Exploring the preference for infant-directed speech. Advances in Methods and Practices in Psychological Science, 4(1), 1-30. doi:10.1177/2515245920974622.

    Abstract

    From the earliest months of life, infants prefer listening to and learn better from infant-directed speech (IDS) than adult-directed speech (ADS). Yet, IDS differs within communities, across languages, and across cultures, both in form and in prevalence. This large-scale, multi-site study used the diversity of bilingual infant experiences to explore the impact of different types of linguistic experience on infants’ IDS preference. As part of the multi-lab ManyBabies project, we compared lab-matched samples of 333 bilingual and 385 monolingual infants’ preference for North-American English IDS (cf. ManyBabies Consortium, in press (MB1)), tested in 17 labs in 7 countries. Those infants were tested in two age groups: 6–9 months (the younger sample) and 12–15 months (the older sample). We found that bilingual and monolingual infants both preferred IDS to ADS, and did not differ in terms of the overall magnitude of this preference. However, amongst bilingual infants who were acquiring North-American English (NAE) as a native language, greater exposure to NAE was associated with a stronger IDS preference, extending the previous finding from MB1 that monolinguals learning NAE as a native language showed a stronger preference than infants unexposed to NAE. Together, our findings indicate that IDS preference likely makes a similar contribution to monolingual and bilingual development, and that infants are exquisitely sensitive to the nature and frequency of different types of language input in their early environments.
  • Cai, D., Fonteijn, H. M., Guadalupe, T., Zwiers, M., Wittfeld, K., Teumer, A., Hoogman, M., Arias Vásquez, A., Yang, Y., Buitelaar, J., Fernández, G., Brunner, H. G., Van Bokhoven, H., Franke, B., Hegenscheid, K., Homuth, G., Fisher, S. E., Grabe, H. J., Francks, C., & Hagoort, P. (2014). A genome wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus. Genes, Brain and Behavior, 13, 675-685. doi:10.1111/gbb.12157.

    Abstract

    Heschl's gyrus (HG) is a core region of the auditory cortex whose morphology is highly variable across individuals. This variability has been linked to sound perception ability in both speech and music domains. Previous studies show that variations in morphological features of HG, such as cortical surface area and thickness, are heritable. To identify genetic variants that affect HG morphology, we conducted a genome-wide association scan (GWAS) meta-analysis in 3054 healthy individuals using HG surface area and thickness as quantitative traits. None of the single nucleotide polymorphisms (SNPs) showed association P values that would survive correction for multiple testing over the genome. The most significant association was found between right HG area and SNP rs72932726 close to gene DCBLD2 (3q12.1; P=2.77x10(-7)). This SNP was also associated with other regions involved in speech processing. The SNP rs333332 within gene KALRN (3q21.2; P=2.27x10(-6)) and rs143000161 near gene COBLL1 (2q24.3; P=2.40x10(-6)) were associated with the area and thickness of left HG, respectively. Both genes are involved in the development of the nervous system. The SNP rs7062395 close to the X-linked deafness gene POU3F4 was associated with right HG thickness (Xq21.1; P=2.38x10(-6)). This is the first molecular genetic analysis of variability in HG morphology
  • Capilla, A., Schoffelen, J.-M., Paterson, G., Thut, G., & Gross, J. (2014). Dissociated α-band modulations in the dorsal and ventral visual pathways in visuospatial attention and perception. Cerebral Cortex., 24(2), 550-561. doi:10.1093/cercor/bhs343.

    Abstract

    Modulations of occipito-parietal α-band (8–14 Hz) power that are opposite in direction (α-enhancement vs. α-suppression) and origin of generation (ipsilateral vs. contralateral to the locus of attention) are a robust correlate of anticipatory visuospatial attention. Yet, the neural generators of these α-band modulations, their interdependence across homotopic areas, and their respective contribution to subsequent perception remain unclear. To shed light on these questions, we employed magnetoencephalography, while human volunteers performed a spatially cued detection task. Replicating previous findings, we found α-power enhancement ipsilateral to the attended hemifield and contralateral α-suppression over occipitoparietal sensors. Source localization (beamforming) analysis showed that α-enhancement and suppression were generated in 2 distinct brain regions, located in the dorsal and ventral visual streams, respectively. Moreover, α-enhancement and suppression showed different dynamics and contribution to perception. In contrast to the initial and transient dorsal α-enhancement, α-suppression in ventro-lateral occipital cortex was sustained and influenced subsequent target detection. This anticipatory biasing of ventrolateral extrastriate α-activity probably reflects increased receptivity in the brain region specialized in processing upcoming target features. Our results add to current models on the role of α-oscillations in attention orienting by showing that α-enhancement and suppression can be dissociated in time, space, and perceptual relevance.

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  • Carota, F., Moseley, R., & Pulvermüller, F. (2012). Body-part-specific Representations of Semantic Noun Categories. Journal of Cognitive Neuroscience, 24(6), 1492-1509. doi:10.1162/jocn\_a\_00219.

    Abstract

    Word meaning processing in the brain involves ventrolateral temporal cortex, but a semantic contribution of the dorsal stream, especially frontocentral sensorimotor areas, has been controversial. We here examine brain activation during passive reading of object-related nouns from different semantic categories, notably animal, food, and tool words, matched for a range of psycholinguistic features. Results show ventral stream activation in temporal cortex along with category-specific activation patterns in both ventral and dorsal streams, including sensorimotor systems and adjacent pFC. Precentral activation reflected action-related semantic features of the word categories. Cortical regions implicated in mouth and face movements were sparked by food words, and hand area activation was seen for tool words, consistent with the actions implicated by the objects the words are used to speak about. Furthermore, tool words specifically activated the right cerebellum, and food words activated the left orbito-frontal and fusiform areas. We discuss our results in the context of category-specific semantic deficits in the processing of words and concepts, along with previous neuroimaging research, and conclude that specific dorsal and ventral areas in frontocentral and temporal cortex index visual and affective–emotional semantic attributes of object-related nouns and action-related affordances of their referent objects.
  • Carota, F., Nili, H., Pulvermüller, F., & Kriegeskorte, N. (2021). Distinct fronto-temporal substrates of distributional and taxonomic similarity among words: Evidence from RSA of BOLD signals. NeuroImage, 224: 117408. doi:10.1016/j.neuroimage.2020.117408.

    Abstract

    A class of semantic theories defines concepts in terms of statistical distributions of lexical items, basing meaning on vectors of word co-occurrence frequencies. A different approach emphasizes abstract hierarchical taxonomic relationships among concepts. However, the functional relevance of these different accounts and how they capture information-encoding of meaning in the brain still remains elusive.

    We investigated to what extent distributional and taxonomic models explained word-elicited neural responses using cross-validated representational similarity analysis (RSA) of functional magnetic resonance imaging (fMRI) and novel model comparisons.

    Our findings show that the brain encodes both types of semantic similarities, but in distinct cortical regions. Posterior middle temporal regions reflected word links based on hierarchical taxonomies, along with the action-relatedness of the semantic word categories. In contrast, distributional semantics best predicted the representational patterns in left inferior frontal gyrus (LIFG, BA 47). Both representations coexisted in angular gyrus supporting semantic binding and integration. These results reveal that neuronal networks with distinct cortical distributions across higher-order association cortex encode different representational properties of word meanings. Taxonomy may shape long-term lexical-semantic representations in memory consistently with sensorimotor details of semantic categories, whilst distributional knowledge in the LIFG (BA 47) enable semantic combinatorics in the context of language use.

    Our approach helps to elucidate the nature of semantic representations essential for understanding human language.
  • Carrion Castillo, A., Estruch, S. B., Maassen, B., Franke, B., Francks, C., & Fisher, S. E. (2021). Whole-genome sequencing identifies functional noncoding variation in SEMA3C that cosegregates with dyslexia in a multigenerational family. Human Genetics, 140, 1183-1200. doi:10.1007/s00439-021-02289-w.

    Abstract

    Dyslexia is a common heritable developmental disorder involving impaired reading abilities. Its genetic underpinnings are thought to be complex and heterogeneous, involving common and rare genetic variation. Multigenerational families segregating apparent monogenic forms of language-related disorders can provide useful entrypoints into biological pathways. In the present study, we performed a genome-wide linkage scan in a three-generational family in which dyslexia affects 14 of its 30 members and seems to be transmitted with an autosomal dominant pattern of inheritance. We identified a locus on chromosome 7q21.11 which cosegregated with dyslexia status, with the exception of two cases of phenocopy (LOD = 2.83). Whole-genome sequencing of key individuals enabled the assessment of coding and noncoding variation in the family. Two rare single-nucleotide variants (rs144517871 and rs143835534) within the first intron of the SEMA3C gene cosegregated with the 7q21.11 risk haplotype. In silico characterization of these two variants predicted effects on gene regulation, which we functionally validated for rs144517871 in human cell lines using luciferase reporter assays. SEMA3C encodes a secreted protein that acts as a guidance cue in several processes, including cortical neuronal migration and cellular polarization. We hypothesize that these intronic variants could have a cis-regulatory effect on SEMA3C expression, making a contribution to dyslexia susceptibility in this family.
  • Carroll, M., Lambert, M., Weimar, K., Flecken, M., & von Stutterheim, C. (2012). Tracing trajectories: Motion event construal by advanced L2 French-English and L2 French-German speakers. Language Interaction and Acquisition, 3(2), 202-230. doi:10.1075/lia.3.2.03car.

    Abstract

    Although the typological contrast between Romance and Germanic languages as verb-framed versus satellite-framed (Talmy 1985) forms the background for many empirical studies on L2 acquisition, the inconclusive picture to date calls for more differentiated, fine-grained analyses. The present study goes beyond explanations based on this typological contrast and takes into account the sources from which spatial concepts are mainly derived in order to shape the trajectory traced by the entity in motion when moving through space: the entity in V-languages versus features of the ground in S-languages. It investigates why advanced French learners of English and German have difficulty acquiring the use of spatial concepts typical of the L2s to shape the trajectory, although relevant concepts can be expressed in their L1. The analysis compares motion event descriptions, based on the same sets of video clips, of L1 speakers of the three languages to L1 French-L2 English and L1 French-L2 German speakers, showing that the learners do not fully acquire the use of L2-specific spatial concepts. We argue that encoded concepts derived from the entity in motion vs. the ground lead to a focus on different aspects of motion events, in accordance with their compatibility with these sources, and are difficult to restructure in L2 acquisition.
  • Casasanto, D. (2009). Embodiment of abstract concepts: Good and bad in right- and left-handers. Journal of Experimental Psychology: General, 138, 351-367. doi:10.1037/a0015854.

    Abstract

    Do people with different kinds of bodies think differently? According to the body-specificity hypothesis, people who interact with their physical environments in systematically different ways should form correspondingly different mental representations. In a test of this hypothesis, 5 experiments investigated links between handedness and the mental representation of abstract concepts with positive or negative valence (e.g., honesty, sadness, intelligence). Mappings from spatial location to emotional valence differed between right- and left-handed participants. Right-handers tended to associate rightward space with positive ideas and leftward space with negative ideas, but left-handers showed the opposite pattern, associating rightward space with negative ideas and leftward with positive ideas. These contrasting mental metaphors for valence cannot be attributed to linguistic experience, because idioms in English associate good with right but not with left. Rather, right- and left-handers implicitly associated positive valence more strongly with the side of space on which they could act more fluently with their dominant hands. These results support the body-specificity hypothesis and provide evidence for the perceptuomotor basis of even the most abstract ideas.
  • Casasanto, D. (2009). [Review of the book Music, language, and the brain by Aniruddh D. Patel]. Language and Cognition, 1(1), 143-146. doi:10.1515/LANGCOG.2009.007.
  • Casasanto, D., & Henetz, T. (2012). Handedness shapes children’s abstract concepts. Cognitive Science, 36, 359-372. doi:10.1111/j.1551-6709.2011.01199.x.

    Abstract

    Can children’s handedness influence how they represent abstract concepts like kindness and intelligence? Here we show that from an early age, right-handers associate rightward space more strongly with positive ideas and leftward space with negative ideas, but the opposite is true for left-handers. In one experiment, children indicated where on a diagram a preferred toy and a dispreferred toy should go. Right-handers tended to assign the preferred toy to a box on the right and the dispreferred toy to a box on the left. Left-handers showed the opposite pattern. In a second experiment, children judged which of two cartoon animals looked smarter (or dumber) or nicer (or meaner). Right-handers attributed more positive qualities to animals on the right, but left-handers to animals on the left. These contrasting associations between space and valence cannot be explained by exposure to language or cultural conventions, which consistently link right with good. Rather, right- and left-handers implicitly associated positive valence more strongly with the side of space on which they can act more fluently with their dominant hands. Results support the body-specificity hypothesis (Casasanto, 2009), showing that children with different kinds of bodies think differently in corresponding ways.
  • Casillas, M., Brown, P., & Levinson, S. C. (2021). Early language experience in a Papuan community. Journal of Child Language, 48(4), 792-814. doi:10.1017/S0305000920000549.

    Abstract

    The rate at which young children are directly spoken to varies due to many factors, including (a) caregiver ideas about children as conversational partners and (b) the organization of everyday life. Prior work suggests cross-cultural variation in rates of child-directed speech is due to the former factor, but has been fraught with confounds in comparing postindustrial and subsistence farming communities. We investigate the daylong language environments of children (0;0–3;0) on Rossel Island, Papua New Guinea, a small-scale traditional community where prior ethnographic study demonstrated contingency-seeking child interaction styles. In fact, children were infrequently directly addressed and linguistic input rate was primarily affected by situational factors, though children’s vocalization maturity showed no developmental delay. We compare the input characteristics between this community and a Tseltal Mayan one in which near-parallel methods produced comparable results, then briefly discuss the models and mechanisms for learning best supported by our findings.
  • Catani, M., Dell'Acqua, F., Bizzi, A., Forkel, S. J., Williams, S. C., Simmons, A., Murphy, D. G., & Thiebaut de Schotten, M. (2012). Beyond cortical localization in clinico-anatomical correlation. Cortex, 48(10), 1262-1287. doi:10.1016/j.cortex.2012.07.001.

    Abstract

    Last year was the 150th anniversary of Paul Broca's landmark case report on speech disorder that paved the way for subsequent studies of cortical localization of higher cognitive functions. However, many complex functions rely on the activity of distributed networks rather than single cortical areas. Hence, it is important to understand how brain regions are linked within large-scale networks and to map lesions onto connecting white matter tracts. To facilitate this network approach we provide a synopsis of classical neurological syndromes associated with frontal, parietal, occipital, temporal and limbic lesions. A review of tractography studies in a variety of neuropsychiatric disorders is also included. The synopsis is accompanied by a new atlas of the human white matter connections based on diffusion tensor tractography freely downloadable on http://www.natbrainlab.com. Clinicians can use the maps to accurately identify the tract affected by lesions visible on conventional CT or MRI. The atlas will also assist researchers to interpret their group analysis results. We hope that the synopsis and the atlas by allowing a precise localization of white matter lesions and associated symptoms will facilitate future work on the functional correlates of human neural networks as derived from the study of clinical populations. Our goal is to stimulate clinicians to develop a critical approach to clinico-anatomical correlative studies and broaden their view of clinical anatomy beyond the cortical surface in order to encompass the dysfunction related to connecting pathways.

    Additional information

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  • Ceroni, F., Simpson, N. H., Francks, C., Baird, G., Conti-Ramsden, G., Clark, A., Bolton, P. F., Hennessy, E. R., Donnelly, P., Bentley, D. R., Martin, H., IMGSAC, SLI Consortium, WGS500 Consortium, Parr, J., Pagnamenta, A. T., Maestrini, E., Bacchelli, E., Fisher, S. E., & Newbury, D. F. (2014). Homozygous microdeletion of exon 5 in ZNF277 in a girl with specific language impairment. European Journal of Human Genetics, 22, 1165-1171. doi:10.1038/ejhg.2014.4.

    Abstract

    Specific language impairment (SLI), an unexpected failure to develop appropriate language skills despite adequate non-verbal intelligence, is a heterogeneous multifactorial disorder with a complex genetic basis. We identified a homozygous microdeletion of 21,379 bp in the ZNF277 gene (NM_021994.2), encompassing exon 5, in an individual with severe receptive and expressive language impairment. The microdeletion was not found in the proband’s affected sister or her brother who had mild language impairment. However, it was inherited from both parents, each of whom carries a heterozygous microdeletion and has a history of language problems. The microdeletion falls within the AUTS1 locus, a region linked to autistic spectrum disorders (ASDs). Moreover, ZNF277 is adjacent to the DOCK4 and IMMP2L genes, which have been implicated in ASD. We screened for the presence of ZNF277 microdeletions in cohorts of children with SLI or ASD and panels of control subjects. ZNF277 microdeletions were at an increased allelic frequency in SLI probands (1.1%) compared with both ASD family members (0.3%) and independent controls (0.4%). We performed quantitative RT-PCR analyses of the expression of IMMP2L, DOCK4 and ZNF277 in individuals carrying either an IMMP2L_DOCK4 microdeletion or a ZNF277 microdeletion. Although ZNF277 microdeletions reduce the expression of ZNF277, they do not alter the levels of DOCK4 or IMMP2L transcripts. Conversely, IMMP2L_DOCK4 microdeletions do not affect the expression levels of ZNF277. We postulate that ZNF277 microdeletions may contribute to the risk of language impairments in a manner that is independent of the autism risk loci previously described in this region.
  • Çetinçelik, M., Rowland, C. F., & Snijders, T. M. (2021). Do the eyes have it? A systematic review on the role of eye gaze in infant language development. Frontiers in Psychology, 11: 589096. doi:10.3389/fpsyg.2020.589096.

    Abstract

    Eye gaze is a ubiquitous cue in child-caregiver interactions and infants are highly attentive to eye gaze from very early on. However, the question of why infants show gaze-sensitive behavior, and what role this sensitivity to gaze plays in their language development, is not yet well-understood. To gain a better understanding of the role of eye gaze in infants’ language learning, we conducted a broad systematic review of the developmental literature for all studies that investigate the role of eye gaze in infants’ language development. Across 77 peer-reviewed articles containing data from typically-developing human infants (0-24 months) in the domain of language development we identified two broad themes. The first tracked the effect of eye gaze on four developmental domains: (1) vocabulary development, (2) word-object mapping, (3) object processing, and (4) speech processing. Overall, there is considerable evidence that infants learn more about objects and are more likely to form word-object mappings in the presence of eye gaze cues, both of which are necessary for learning words. In addition, there is good evidence for longitudinal relationships between infants’ gaze following abilities and later receptive and expressive vocabulary. However, many domains (e.g. speech processing) are understudied; further work is needed to decide whether gaze effects are specific to tasks such as word-object mapping, or whether they reflect a general learning enhancement mechanism. The second theme explored the reasons why eye gaze might be facilitative for learning, addressing the question of whether eye gaze is treated by infants as a specialized socio-cognitive cue. We concluded that the balance of evidence supports the idea that eye gaze facilitates infants’ learning by enhancing their arousal, memory and attentional capacities to a greater extent than other low-level attentional cues. However, as yet, there are too few studies that directly compare the effect of eye gaze cues and non-social, attentional cues for strong conclusions to be drawn. We also suggest there might be a developmental effect, with eye gaze, over the course of the first two years of life, developing into a truly ostensive cue that enhances language learning across the board.

    Additional information

    data sheet
  • Chan, A., Matthews, S., Tse, N., Lam, A., Chang, F., & Kidd, E. (2021). Revisiting Subject–Object Asymmetry in the Production of Cantonese Relative Clauses: Evidence From Elicited Production in 3-Year-Olds. Frontiers in Psychology, 12: 679008. doi:10.3389/fpsyg.2021.679008.

    Abstract

    Emergentist approaches to language acquisition identify a core role for language-specific experience and give primacy to other factors like function and domain-general learning mechanisms in syntactic development. This directly contrasts with a nativist structurally oriented approach, which predicts that grammatical development is guided by Universal Grammar and that structural factors constrain acquisition. Cantonese relative clauses (RCs) offer a good opportunity to test these perspectives because its typologically rare properties decouple the roles of frequency and complexity in subject- and object-RCs in a way not possible in European languages. Specifically, Cantonese object RCs of the classifier type are frequently attested in children’s linguistic experience and are isomorphic to frequent and early-acquired simple SVO transitive clauses, but according to formal grammatical analyses Cantonese subject RCs are computationally less demanding to process. Thus, the two opposing theories make different predictions: the emergentist approach predicts a specific preference for object RCs of the classifier type, whereas the structurally oriented approach predicts a subject advantage. In the current study we revisited this issue. Eighty-seven monolingual Cantonese children aged between 3;2 and 3;11 (Mage: 3;6) participated in an elicited production task designed to elicit production of subject- and object- RCs. The children were very young and most of them produced only noun phrases when RCs were elicited. Those (nine children) who did produce RCs produced overwhelmingly more object RCs than subject RCs, even when animacy cues were controlled. The majority of object RCs produced were the frequent classifier-type RCs. The findings concur with our hypothesis from the emergentist perspectives that input frequency and formal and functional similarity to known structures guide acquisition.
  • Chang, F., Janciauskas, M., & Fitz, H. (2012). Language adaptation and learning: Getting explicit about implicit learning. Language and Linguistics Compass, 6, 259-278. doi:10.1002/lnc3.337.

    Abstract

    Linguistic adaptation is a phenomenon where language representations change in response to linguistic input. Adaptation can occur on multiple linguistic levels such as phonology (tuning of phonotactic constraints), words (repetition priming), and syntax (structural priming). The persistent nature of these adaptations suggests that they may be a form of implicit learning and connectionist models have been developed which instantiate this hypothesis. Research on implicit learning, however, has also produced evidence that explicit chunk knowledge is involved in the performance of these tasks. In this review, we examine how these interacting implicit and explicit processes may change our understanding of language learning and processing.
  • Chen, X. S., & Brown, C. M. (2012). Computational identification of new structured cis-regulatory elements in the 3'-untranslated region of human protein coding genes. Nucleic Acids Research, 40, 8862-8873. doi:10.1093/nar/gks684.

    Abstract

    Messenger ribonucleic acids (RNAs) contain a large number of cis-regulatory RNA elements that function in many types of post-transcriptional regulation. These cis-regulatory elements are often characterized by conserved structures and/or sequences. Although some classes are well known, given the wide range of RNA-interacting proteins in eukaryotes, it is likely that many new classes of cis-regulatory elements are yet to be discovered. An approach to this is to use computational methods that have the advantage of analysing genomic data, particularly comparative data on a large scale. In this study, a set of structural discovery algorithms was applied followed by support vector machine (SVM) classification. We trained a new classification model (CisRNA-SVM) on a set of known structured cis-regulatory elements from 3′-untranslated regions (UTRs) and successfully distinguished these and groups of cis-regulatory elements not been strained on from control genomic and shuffled sequences. The new method outperformed previous methods in classification of cis-regulatory RNA elements. This model was then used to predict new elements from cross-species conserved regions of human 3′-UTRs. Clustering of these elements identified new classes of potential cis-regulatory elements. The model, training and testing sets and novel human predictions are available at: http://mRNA.otago.ac.nz/CisRNA-SVM.
  • Chen, X. S., Collins, L. J., Biggs, P. J., & Penny, D. (2009). High throughput genome-wide survey of small RNAs from the parasitic protists giardia intestinalis and trichomonas vaginalis. Genome biology and evolution, 1, 165-175. doi:10.1093/gbe/evp017.

    Abstract

    RNA interference (RNAi) is a set of mechanisms which regulate gene expression in eukaryotes. Key elements of RNAi are small sense and antisense RNAs from 19 to 26 nucleotides generated from double-stranded RNAs. miRNAs are a major type of RNAi-associated small RNAs and are found in most eukaryotes studied to date. To investigate whether small RNAs associated with RNAi appear to be present in all eukaryotic lineages, and therefore present in the ancestral eukaryote, we studied two deep-branching protozoan parasites, Giardia intestinalis and Trichomonas vaginalis. Little is known about endogenous small RNAs involved in RNAi of these organisms. Using Illumina Solexa sequencing and genome-wide analysis of small RNAs from these distantly related deep-branching eukaryotes, we identified 10 strong miRNA candidates from Giardia and 11 from Trichomonas. We also found evidence of Giardia siRNAs potentially involved in the expression of variant-specific-surface proteins. In addition, 8 new snoRNAs from Trichomonas are identified. Our results indicate that miRNAs are likely to be general in ancestral eukaryotes, and therefore are likely to be a universal feature of eukaryotes.
  • Chen, A. (2009). Intonation and reference maintenance in Turkish learners of Dutch: A first insight. AILE - Acquisition et Interaction en Langue Etrangère, 28(2), 67-91.

    Abstract

    This paper investigates L2 learners’ use of intonation in reference maintenance in comparison to native speakers at three longitudinal points. Nominal referring expressions were elicited from two untutored Turkish learners of Dutch and five native speakers of Dutch via a film retelling task, and were analysed in terms of pitch span and word duration. Effects of two types of change in information states were examined, between new and given and between new and accessible. We found native-like use of word duration in both types of change early on but different performances between learners and development over time in one learner in the use of pitch span. Further, the use of morphosyntactic devices had different effects on the two learners. The inter-learner differences and late systematic use of pitch span, in spite of similar use of pitch span in learners’ L1 and L2, suggest that learning may play a role in the acquisition of intonation as a device for reference maintenance.
  • Chen, A. (2009). Perception of paralinguistic intonational meaning in a second language. Language Learning, 59(2), 367-409.
  • Choi, S., & Bowerman, M. (1991). Learning to express motion events in English and Korean: The influence of language-specific lexicalization patterns. Cognition, 41, 83-121. doi:10.1016/0010-0277(91)90033-Z.

    Abstract

    English and Korean differ in how they lexicalize the components of motionevents. English characteristically conflates Motion with Manner, Cause, or Deixis, and expresses Path separately. Korean, in contrast, conflates Motion with Path and elements of Figure and Ground in transitive clauses for caused Motion, but conflates motion with Deixis and spells out Path and Manner separately in intransitive clauses for spontaneous motion. Children learningEnglish and Korean show sensitivity to language-specific patterns in the way they talk about motion from as early as 17–20 months. For example, learners of English quickly generalize their earliest spatial words — Path particles like up, down, and in — to both spontaneous and caused changes of location and, for up and down, to posture changes, while learners of Korean keep words for spontaneous and caused motion strictly separate and use different words for vertical changes of location and posture changes. These findings challenge the widespread view that children initially map spatial words directly to nonlinguistic spatial concepts, and suggest that they are influenced by the semantic organization of their language virtually from the beginning. We discuss how input and cognition may interact in the early phases of learning to talk about space.
  • Cholin, J., & Levelt, W. J. M. (2009). Effects of syllable preparation and syllable frequency in speech production: Further evidence for syllabic units at a post-lexical level. Language and Cognitive Processes, 24, 662-684. doi:10.1080/01690960802348852.

    Abstract

    In the current paper, we asked at what level in the speech planning process speakers retrieve stored syllables. There is evidence that syllable structure plays an essential role in the phonological encoding of words (e.g., online syllabification and phonological word formation). There is also evidence that syllables are retrieved as whole units. However, findings that clearly pinpoint these effects to specific levels in speech planning are scarce. We used a naming variant of the implicit priming paradigm to contrast voice onset latencies for frequency-manipulated disyllabic Dutch pseudo-words. While prior implicit priming studies only manipulated the item's form and/or syllable structure overlap we introduced syllable frequency as an additional factor. If the preparation effect for syllables obtained in the implicit priming paradigm proceeds beyond phonological planning, i.e., includes the retrieval of stored syllables, then the preparation effect should differ for high- and low frequency syllables. The findings reported here confirm this prediction: Low-frequency syllables benefit significantly more from the preparation than high-frequency syllables. Our findings support the notion of a mental syllabary at a post-lexical level, between the levels of phonological and phonetic encoding.
  • Chu, M., Meyer, A. S., Foulkes, L., & Kita, S. (2014). Individual differences in frequency and saliency of speech-accompanying gestures: The role of cognitive abilities and empathy. Journal of Experimental Psychology: General, 143, 694-709. doi:10.1037/a0033861.

    Abstract

    The present study concerns individual differences in gesture production. We used correlational and multiple regression analyses to examine the relationship between individuals’ cognitive abilities and empathy levels and their gesture frequency and saliency. We chose predictor variables according to experimental evidence of the functions of gesture in speech production and communication. We examined 3 types of gestures: representational gestures, conduit gestures, and palm-revealing gestures. Higher frequency of representational gestures was related to poorer visual and spatial working memory, spatial transformation ability, and conceptualization ability; higher frequency of conduit gestures was related to poorer visual working memory, conceptualization ability, and higher levels of empathy; and higher frequency of palm-revealing gestures was related to higher levels of empathy. The saliency of all gestures was positively related to level of empathy. These results demonstrate that cognitive abilities and empathy levels are related to individual differences in gesture frequency and saliency
  • Chu, M., & Hagoort, P. (2014). Synchronization of speech and gesture: Evidence for interaction in action. Journal of Experimental Psychology: General, 143(4), 1726-1741. doi:10.1037/a0036281.

    Abstract

    Language and action systems are highly interlinked. A critical piece of evidence is that speech and its accompanying gestures are tightly synchronized. Five experiments were conducted to test 2 hypotheses about the synchronization of speech and gesture. According to the interactive view, there is continuous information exchange between the gesture and speech systems, during both their planning and execution phases. According to the ballistic view, information exchange occurs only during the planning phases of gesture and speech, but the 2 systems become independent once their execution has been initiated. In all experiments, participants were required to point to and/or name a light that had just lit up. Virtual reality and motion tracking technologies were used to disrupt their gesture or speech execution. Participants delayed their speech onset when their gesture was disrupted. They did so even when their gesture was disrupted at its late phase and even when they received only the kinesthetic feedback of their gesture. Also, participants prolonged their gestures when their speech was disrupted. These findings support the interactive view and add new constraints on models of speech and gesture production
  • Cohen, E., Van Leeuwen, E. J. C., Barbosa, A., & Haun, D. B. M. (2021). Does accent trump skin color in guiding children’s social preferences? Evidence from Brazil’s natural lab. Cognitive Development, 60: 101111. doi:10.1016/j.cogdev.2021.101111.

    Abstract

    Previous research has shown significant effects of race and accent on children’s developing social preferences. Accounts of the primacy of accent biases in the evolution and ontogeny of discriminant cooperation have been proposed, but lack systematic cross-cultural investigation. We report three controlled studies conducted with 5−10 year old children across four towns in the Brazilian Amazon, selected for their variation in racial and accent homogeneity/heterogeneity. Study 1 investigated participants’ (N = 289) decisions about friendship and sharing across color-contrasted pairs of target individuals: Black-White, Black-Pardo (Brown), Pardo-White. Study 2 (N = 283) investigated effects of both color and accent (Local vs Non-Local) on friendship and sharing decisions. Overall, there was a significant bias toward the lighter colored individual. A significant preference for local accent mitigates but does not override the color bias, except in the site characterized by both racial and accent heterogeneity. Results also vary by participant age and color. Study 3 (N = 235) reports results of an accent discrimination task that shows an overall increase in accuracy with age. The research suggests that cooperative preferences based on accent and race develop differently in response to locally relevant parameters of racial and linguistic variation.
  • Cohen, E. (2012). [Review of the book Searching for Africa in Brazil: Power and Tradition in Candomblé by Stefania Capone]. Critique of Anthropology, 32, 217-218. doi:10.1177/0308275X12439961.
  • Cohen, E. (2012). The evolution of tag-based cooperation in humans: The case for accent. Current Anthropology, 53, 588-616. doi:10.1086/667654.

    Abstract

    Recent game-theoretic simulation and analytical models have demonstrated that cooperative strategies mediated by indicators of cooperative potential, or “tags,” can invade, spread, and resist invasion by noncooperators across a range of population-structure and cost-benefit scenarios. The plausibility of these models is potentially relevant for human evolutionary accounts insofar as humans possess some phenotypic trait that could serve as a reliable tag. Linguistic markers, such as accent and dialect, have frequently been either cursorily defended or promptly dismissed as satisfying the criteria of a reliable and evolutionarily viable tag. This paper integrates evidence from a range of disciplines to develop and assess the claim that speech accent mediated the evolution of tag-based cooperation in humans. Existing evidence warrants the preliminary conclusion that accent markers meet the demands of an evolutionarily viable tag and potentially afforded a cost-effective solution to the challenges of maintaining viable cooperative relationships in diffuse, regional social networks.
  • Collins, L. J., & Chen, X. S. (2009). Ancestral RNA: The RNA biology of the eukaryotic ancestor. RNA Biology, 6(5), 495-502. doi:10.4161/rna.6.5.9551.

    Abstract

    Our knowledge of RNA biology within eukaryotes has exploded over the last five years. Within new research we see that some features that were once thought to be part of multicellular life have now been identified in several protist lineages. Hence, it is timely to ask which features of eukaryote RNA biology are ancestral to all eukaryotes. We focus on RNA-based regulation and epigenetic mechanisms that use small regulatory ncRNAs and long ncRNAs, to highlight some of the many questions surrounding eukaryotic ncRNA evolution.
  • Colzato, L. S., Zech, H., Hommel, B., Verdonschot, R. G., Van den Wildenberg, W. P. M., & Hsieh, S. (2012). Loving-kindness brings loving-kindness: The impact of Buddhism on cognitive self-other integration. Psychonomic Bulletin & Review, 19(3), 541-545. doi:10.3758/s13423-012-0241-y.

    Abstract

    Common wisdom has it that Buddhism enhances compassion and self-other integration. We put this assumption to empirical test by comparing practicing Taiwanese Buddhists with well-matched atheists. Buddhists showed more evidence of self-other integration in the social Simon task, which assesses the degree to which people co-represent the actions of a coactor. This suggests that self-other integration and task co-representation vary as a function of religious practice.
  • Connine, C. M., Clifton, Jr., C., & Cutler, A. (1987). Effects of lexical stress on phonetic categorization. Phonetica, 44, 133-146.
  • Cooper, R. P., & Guest, O. (2014). Implementations are not specifications: Specification, replication and experimentation in computational cognitive modeling. Cognitive Systems Research, 27, 42-49. doi:10.1016/j.cogsys.2013.05.001.

    Abstract

    Contemporary methods of computational cognitive modeling have recently been criticized by Addyman and French (2012) on the grounds that they have not kept up with developments in computer technology and human–computer interaction. They present a manifesto for change according to which, it is argued, modelers should devote more effort to making their models accessible, both to non-modelers (with an appropriate easy-to-use user interface) and modelers alike. We agree that models, like data, should be freely available according to the normal standards of science, but caution against confusing implementations with specifications. Models may embody theories, but they generally also include implementation assumptions. Cognitive modeling methodology needs to be sensitive to this. We argue that specification, replication and experimentation are methodological approaches that can address this issue.
  • Cousijn, H., Eissing, M., Fernández, G., Fisher, S. E., Franke, B., Zwers, M., Harrison, P. J., & Arias-Vasquez, A. (2014). No effect of schizophrenia risk genes MIR137, TCF4, and ZNF804A on macroscopic brain structure. Schizophrenia Research, 159, 329-332. doi:10.1016/j.schres.2014.08.007.

    Abstract

    Single nucleotide polymorphisms (SNPs) within the MIR137, TCF4, and ZNF804A genes show genome-wide association to schizophrenia. However, the biological basis for the associations is unknown. Here, we tested the effects of these genes on brain structure in 1300 healthy adults. Using volumetry and voxel-based morphometry, neither gene-wide effects—including the combined effect of the genes—nor single SNP effects—including specific psychosis risk SNPs—were found on total brain volume, grey matter, white matter, or hippocampal volume. These results suggest that the associations between these risk genes and schizophrenia are unlikely to be mediated via effects on macroscopic brain structure.
  • Creaghe, N., Quinn, S., & Kidd, E. (2021). Symbolic play provides a fertile context for language development. Infancy, 26(6), 980-1010. doi:10.1111/infa.12422.

    Abstract

    In this study we test the hypothesis that symbolic play represents a fertile context for language acquisition because its inherent ambiguity elicits communicative behaviours that positively influence development. Infant-caregiver dyads (N = 54) participated in two 20-minute play sessions six months apart (Time 1 = 18 months, Time 2 = 24 months). During each session the dyads played with two sets of toys that elicited either symbolic or functional play. The sessions were transcribed and coded for several features of dyadic interaction and speech; infants’ linguistic proficiency was measured via parental report. The two play contexts resulted in different communicative and linguistic behaviour. Notably, the symbolic play condition resulted in significantly greater conversational turn-taking than functional play, and also resulted in the greater use of questions and mimetics in infant-directed speech (IDS). In contrast, caregivers used more imperative clauses in functional play. Regression analyses showed that unique properties of symbolic play (i.e., turn-taking, yes-no questions, mimetics) positively predicted children’s language proficiency, whereas unique features of functional play (i.e., imperatives in IDS) negatively predicted proficiency. The results provide evidence in support of the hypothesis that symbolic play is a fertile context for language development, driven by the need to negotiate meaning.
  • Creemers, A., & Embick, D. (2021). Retrieving stem meanings in opaque words during auditory lexical processing. Language, Cognition and Neuroscience, 36(9), 1107-1122. doi:10.1080/23273798.2021.1909085.

    Abstract

    Recent constituent priming experiments show that Dutch and German prefixed verbs prime their stem, regardless of semantic transparency (e.g. Smolka et al. [(2014). ‘Verstehen’ (‘understand’) primes ‘stehen’ (‘stand’): Morphological structure overrides semantic compositionality in the lexical representation of German complex verbs. Journal of Memory and Language, 72, 16–36. https://doi.org/10.1016/j.jml.2013.12.002]). We examine whether the processing of opaque verbs (e.g. herhalen “repeat”) involves the retrieval of only the whole-word meaning, or whether the lexical-semantic meaning of the stem (halen as “take/get”) is retrieved as well. We report the results of an auditory semantic priming experiment with Dutch prefixed verbs, testing whether the recognition of a semantic associate to the stem (BRENGEN “bring”) is facilitated by the presentation of an opaque prefixed verb. In contrast to prior visual studies, significant facilitation after semantically opaque primes is found, which suggests that the lexical-semantic meaning of stems in opaque words is retrieved. We examine the implications that these findings have for auditory word recognition, and for the way in which different types of meanings are represented and processed.

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  • Cristia, A., Lavechin, M., Scaff, C., Soderstrom, M., Rowland, C. F., Räsänen, O., Bunce, J., & Bergelson, E. (2021). A thorough evaluation of the Language Environment Analysis (LENA) system. Behavior Research Methods, 53, 467-486. doi:10.3758/s13428-020-01393-5.

    Abstract

    In the previous decade, dozens of studies involving thousands of children across several research disciplines have made use of a combined daylong audio-recorder and automated algorithmic analysis called the LENAⓇ system, which aims to assess children’s language environment. While the system’s prevalence in the language acquisition domain is steadily growing, there are only scattered validation efforts on only some of its key characteristics. Here, we assess the LENAⓇ system’s accuracy across all of its key measures: speaker classification, Child Vocalization Counts (CVC), Conversational Turn Counts (CTC), and Adult Word Counts (AWC). Our assessment is based on manual annotation of clips that have been randomly or periodically sampled out of daylong recordings, collected from (a) populations similar to the system’s original training data (North American English-learning children aged 3-36 months), (b) children learning another dialect of English (UK), and (c) slightly older children growing up in a different linguistic and socio-cultural setting (Tsimane’ learners in rural Bolivia). We find reasonably high accuracy in some measures (AWC, CVC), with more problematic levels of performance in others (CTC, precision of male adults and other children). Statistical analyses do not support the view that performance is worse for children who are dissimilar from the LENAⓇ original training set. Whether LENAⓇ results are accurate enough for a given research, educational, or clinical application depends largely on the specifics at hand. We therefore conclude with a set of recommendations to help researchers make this determination for their goals.
  • Cristia, A., Seidl, A., Vaughn, C., Schmale, R., Bradlow, A., & Floccia, C. (2012). Linguistic processing of accented speech across the lifespan. Frontiers in Psychology, 3, 479. doi:10.3389/fpsyg.2012.00479.

    Abstract

    In most of the world, people have regular exposure to multiple accents. Therefore, learning to quickly process accented speech is a prerequisite to successful communication. In this paper, we examine work on the perception of accented speech across the lifespan, from early infancy to late adulthood. Unfamiliar accents initially impair linguistic processing by infants, children, younger adults, and older adults, but listeners of all ages come to adapt to accented speech. Emergent research also goes beyond these perceptual abilities, by assessing links with production and the relative contributions of linguistic knowledge and general cognitive skills. We conclude by underlining points of convergence across ages, and the gaps left to face in future work.
  • Cristia, A., Minagawa-Kawai, Y., Egorova, N., Gervain, J., Filippin, L., Cabrol, D., & Dupoux, E. (2014). Neural correlates of infant accent discrimination: An fNIRS study. Developmental Science, 17(4), 628-635. doi:10.1111/desc.12160.

    Abstract

    The present study investigated the neural correlates of infant discrimination of very similar linguistic varieties (Quebecois and Parisian French) using functional Near InfraRed Spectroscopy. In line with previous behavioral and electrophysiological data, there was no evidence that 3-month-olds discriminated the two regional accents, whereas 5-month-olds did, with the locus of discrimination in left anterior perisylvian regions. These neuroimaging results suggest that a developing language network relying crucially on left perisylvian cortices sustains infants' discrimination of similar linguistic varieties within this early period of infancy.

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  • Cristia, A., Seidl, A., Junge, C., Soderstrom, M., & Hagoort, P. (2014). Predicting individual variation in language from infant speech perception measures. Child development, 85(4), 1330-1345. doi:10.1111/cdev.12193.

    Abstract

    There are increasing reports that individual variation in behavioral and neurophysiological measures of infant speech processing predicts later language outcomes, and specifically concurrent or subsequent vocabulary size. If such findings are held up under scrutiny, they could both illuminate theoretical models of language development and contribute to the prediction of communicative disorders. A qualitative, systematic review of this emergent literature illustrated the variety of approaches that have been used and highlighted some conceptual problems regarding the measurements. A quantitative analysis of the same data established that the bivariate relation was significant, with correlations of similar strength to those found for well-established nonlinguistic predictors of language. Further exploration of infant speech perception predictors, particularly from a methodological perspective, is recommended.
  • Cristia, A., & Seidl, A. (2014). The hyperarticulation hypothesis of infant-directed speech. Journal of Child Language, 41(4), 913-934. doi:10.1017/S0305000912000669.

    Abstract

    Typically, the point vowels [i,ɑ,u] are acoustically more peripheral in infant-directed speech (IDS) compared to adult-directed speech (ADS). If caregivers seek to highlight lexically relevant contrasts in IDS, then two sounds that are contrastive should become more distinct, whereas two sounds that are surface realizations of the same underlying sound category should not. To test this prediction, vowels that are phonemically contrastive ([i-ɪ] and [eɪ-ε]), vowels that map onto the same underlying category ([æ- ] and [ε- ]), and the point vowels [i,ɑ,u] were elicited in IDS and ADS by American English mothers of two age groups of infants (four- and eleven-month-olds). As in other work, point vowels were produced in more peripheral positions in IDS compared to ADS. However, there was little evidence of hyperarticulation per se (e.g. [i-ɪ] was hypoarticulated). We suggest that across-the-board lexically based hyperarticulation is not a necessary feature of IDS.

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    CORRIGENDUM
  • Cronin, K. A., Schroeder, K. K. E., Rothwell, E. S., Silk, J. B., & Snowdon, C. T. (2009). Cooperatively breeding cottontop tamarins (Saguinus oedipus) do not donate rewards to their long-term mates. Journal of Comparative Psychology, 123(3), 231-241. doi:10.1037/a0015094.

    Abstract

    This study tested the hypothesis that cooperative breeding facilitates the emergence of prosocial behavior by presenting cottontop tamarins (Saguinus oedipus) with the option to provide food rewards to pair-bonded mates. In Experiment 1, tamarins could provide rewards to mates at no additional cost while obtaining rewards for themselves. Contrary to the hypothesis, tamarins did not demonstrate a preference to donate rewards, behaving similar to chimpanzees in previous studies. In Experiment 2, the authors eliminated rewards for the donor for a stricter test of prosocial behavior, while reducing separation distress and food preoccupation. Again, the authors found no evidence for a donation preference. Furthermore, tamarins were significantly less likely to deliver rewards to mates when the mate displayed interest in the reward. The results of this study contrast with those recently reported for cooperatively breeding common marmosets, and indicate that prosocial preferences in a food donation task do not emerge in all cooperative breeders. In previous studies, cottontop tamarins have cooperated and reciprocated to obtain food rewards; the current findings sharpen understanding of the boundaries of cottontop tamarins’ food-provisioning behavior.
  • Cronin, K. A., Pieper, B., Van Leeuwen, E. J. C., Mundry, R., & Haun, D. B. M. (2014). Problem solving in the presence of others: How rank and relationship quality impact resource acquisition in chimpanzees (Pan troglodytes). PLoS One, 9(4): e93204. doi:10.1371/journal.pone.0093204.

    Abstract

    In the wild, chimpanzees (Pan troglodytes) are often faced with clumped food resources that they may know how to access but abstain from doing so due to social pressures. To better understand how social settings influence resource acquisition, we tested fifteen semi-wild chimpanzees from two social groups alone and in the presence of others. We investigated how resource acquisition was affected by relative social dominance, whether collaborative problem solving or (active or passive) sharing occurred amongst any of the dyads, and whether these outcomes were related to relationship quality as determined from six months of observational data. Results indicated that chimpanzees, regardless of rank, obtained fewer rewards when tested in the presence of others compared to when they were tested alone. Chimpanzees demonstrated behavioral inhibition; chimpanzees who showed proficient skill when alone often abstained from solving the task when in the presence of others. Finally, individuals with close social relationships spent more time together in the problem solving space, but collaboration and sharing were infrequent and sessions in which collaboration or sharing did occur contained more instances of aggression. Group living provides benefits and imposes costs, and these findings highlight that one cost of group living may be diminishing productive individual behaviors.
  • Cronin, K. A. (2012). Prosocial behaviour in animals: The influence of social relationships, communication and rewards. Animal Behaviour, 84, 1085-1093. doi:10.1016/j.anbehav.2012.08.009.

    Abstract

    Researchers have struggled to obtain a clear account of the evolution of prosocial behaviour despite a great deal of recent effort. The aim of this review is to take a brief step back from addressing the question of evolutionary origins of prosocial behaviour in order to identify contextual factors that are contributing to variation in the expression of prosocial behaviour and hindering progress towards identifying phylogenetic patterns. Most available data come from the Primate Order, and the choice of contextual factors to consider was informed by theory and practice, including the nature of the relationship between the potential donor and recipient, the communicative behaviour of the recipients, and features of the prosocial task including whether rewards are visible and whether the prosocial choice creates an inequity between actors. Conclusions are drawn about the facilitating or inhibiting impact of each of these factors on the expression of prosocial behaviour, and areas for future research are highlighted. Acknowledging the impact of these contextual features on the expression of prosocial behaviours should stimulate new research into the proximate mechanisms that drive these effects, yield experimental designs that better control for potential influences on prosocial expression, and ultimately allow progress towards reconstructing the evolutionary origins of prosocial behaviour.
  • Cronin, K. A., & Sanchez, A. (2012). Social dynamics and cooperation: The case of nonhuman primates and its implications for human behavior. Advances in complex systems, 15, 1250066. doi:10.1142/S021952591250066X.

    Abstract

    The social factors that influence cooperation have remained largely uninvestigated but have the potential to explain much of the variation in cooperative behavior observed in the natural world. We show here that certain dimensions of the social environment, namely the size of the social group, the degree of social tolerance expressed, the structure of the dominance hierarchy, and the patterns of dispersal, may influence the emergence and stability of cooperation in predictable ways. Furthermore, the social environment experienced by a species over evolutionary time will have shaped their cognition to provide certain strengths and strategies that are beneficial in their species‟ social world. These cognitive adaptations will in turn impact the likelihood of cooperating in a given social environment. Experiments with one primate species, the cottontop tamarin, illustrate how social dynamics may influence emergence and stability of cooperative behavior in this species. We then take a more general viewpoint and argue that the hypotheses presented here require further experimental work and the addition of quantitative modeling to obtain a better understanding of how social dynamics influence the emergence and stability of cooperative behavior in complex systems. We conclude by pointing out subsequent specific directions for models and experiments that will allow relevant advances in the understanding of the emergence of cooperation.
  • Cronin, K. A., Van Leeuwen, E. J. C., Vreeman, V., & Haun, D. B. M. (2014). Population-level variability in the social climates of four chimpanzee societies. Evolution and Human Behavior, 35(5), 389-396. doi:10.1016/j.evolhumbehav.2014.05.004.

    Abstract

    Recent debates have questioned the extent to which culturally-transmitted norms drive behavioral variation in resource sharing across human populations. We shed new light on this discussion by examining the group-level variation in the social dynamics and resource sharing of chimpanzees, a species that is highly social and forms long-term community associations but differs from humans in the extent to which cultural norms are adopted and enforced. We rely on theory developed in primate socioecology to guide our investigation in four neighboring chimpanzee groups at a sanctuary in Zambia. We used a combination of experimental and observational approaches to assess the distribution of resource holding potential in each group. In the first assessment, we measured the proportion of the population that gathered in a resource-rich zone, in the second we assessed naturally occurring social spacing via social network analysis, and in the third we assessed the degree to which benefits were equally distributed within the group. We report significant, stable group-level variation across these multiple measures, indicating that group-level variation in resource sharing and social tolerance is not necessarily reliant upon human-like cultural norms.
  • Cuellar-Partida, G., Tung, J. Y., Eriksson, N., Albrecht, E., Aliev, F., Andreassen, O. A., Barroso, I., Beckmann, J. S., Boks, M. P., Boomsma, D. I., Boyd, H. A., Breteler, M. M. B., Campbell, H., Chasman, D. I., Cherkas, L. F., Davies, G., De Geus, E. J. C., Deary, I. J., Deloukas, P., Dick, D. M. and 98 moreCuellar-Partida, G., Tung, J. Y., Eriksson, N., Albrecht, E., Aliev, F., Andreassen, O. A., Barroso, I., Beckmann, J. S., Boks, M. P., Boomsma, D. I., Boyd, H. A., Breteler, M. M. B., Campbell, H., Chasman, D. I., Cherkas, L. F., Davies, G., De Geus, E. J. C., Deary, I. J., Deloukas, P., Dick, D. M., Duffy, D. L., Eriksson, J. G., Esko, T., Feenstra, B., Geller, F., Gieger, C., Giegling, I., Gordon, S. D., Han, J., Hansen, T. F., Hartmann, A. M., Hayward, C., Heikkilä, K., Hicks, A. A., Hirschhorn, J. N., Hottenga, J.-J., Huffman, J. E., Hwang, L.-D., Ikram, M. A., Kaprio, J., Kemp, J. P., Khaw, K.-T., Klopp, N., Konte, B., Kutalik, Z., Lahti, J., Li, X., Loos, R. J. F., Luciano, M., Magnusson, S. H., Mangino, M., Marques-Vidal, P., Martin, N. G., McArdle, W. L., McCarthy, M. I., Medina-Gomez, C., Melbye, M., Melville, S. A., Metspalu, A., Milani, L., Mooser, V., Nelis, M., Nyholt, D. R., O'Connell, K. S., Ophoff, R. A., Palmer, C., Palotie, A., Palviainen, T., Pare, G., Paternoster, L., Peltonen, L., Penninx, B. W. J. H., Polasek, O., Pramstaller, P. P., Prokopenko, I., Raikkonen, K., Ripatti, S., Rivadeneira, F., Rudan, I., Rujescu, D., Smit, J. H., Smith, G. D., Smoller, J. W., Soranzo, N., Spector, T. D., St Pourcain, B., Starr, J. M., Stefánsson, H., Steinberg, S., Teder-Laving, M., Thorleifsson, G., Stefansson, K., Timpson, N. J., Uitterlinden, A. G., Van Duijn, C. M., Van Rooij, F. J. A., Vink, J. M., Vollenweider, P., Vuoksimaa, E., Waeber, G., Wareham, N. J., Warrington, N., Waterworth, D., Werge, T., Wichmann, H.-E., Widen, E., Willemsen, G., Wright, A. F., Wright, M. J., Xu, M., Zhao, J. H., Kraft, P., Hinds, D. A., Lindgren, C. M., Magi, R., Neale, B. M., Evans, D. M., & Medland, S. E. (2021). Genome-wide association study identifies 48 common genetic variants associated with handedness. Nature Human Behaviour, 5, 59-70. doi:10.1038/s41562-020-00956-y.

    Abstract

    Handedness has been extensively studied because of its relationship with language and the over-representation of left-handers in some neurodevelopmental disorders. Using data from the UK Biobank, 23andMe and the International Handedness Consortium, we conducted a genome-wide association meta-analysis of handedness (N = 1,766,671). We found 41 loci associated (P < 5 × 10−8) with left-handedness and 7 associated with ambidexterity. Tissue-enrichment analysis implicated the CNS in the aetiology of handedness. Pathways including regulation of microtubules and brain morphology were also highlighted. We found suggestive positive genetic correlations between left-handedness and neuropsychiatric traits, including schizophrenia and bipolar disorder. Furthermore, the genetic correlation between left-handedness and ambidexterity is low (rG = 0.26), which implies that these traits are largely influenced by different genetic mechanisms. Our findings suggest that handedness is highly polygenic and that the genetic variants that predispose to left-handedness may underlie part of the association with some psychiatric disorders.

    Additional information

    supplementary tables
  • Cutfield, S. (2012). Foreword. Australian Journal of Linguistics, 32(4), 457-458.
  • Cutler, A., Aslin, R. N., Gervain, J., & Nespor, M. (Eds.). (2021). Special issue in honor of Jacques Mehler, Cognition's founding editor [Special Issue]. Cognition, 213.
  • Cutler, A., Aslin, R. N., Gervain, J., & Nespor, M. (2021). Special issue in honor of Jacques Mehler, Cognition's founding editor [preface]. Cognition, 213: 104786. doi:10.1016/j.cognition.2021.104786.
  • Cutler, A., Norris, D., & Williams, J. (1987). A note on the role of phonological expectations in speech segmentation. Journal of Memory and Language, 26, 480-487. doi:10.1016/0749-596X(87)90103-3.

    Abstract

    Word-initial CVC syllables are detected faster in words beginning consonant-vowel-consonant-vowel (CVCV-) than in words beginning consonant-vowel-consonant-consonant (CVCC-). This effect was reported independently by M. Taft and G. Hambly (1985, Journal of Memory and Language, 24, 320–335) and by A. Cutler, J. Mehler, D. Norris, and J. Segui (1986, Journal of Memory and Language, 25, 385–400). Taft and Hambly explained the effect in terms of lexical factors. This explanation cannot account for Cutler et al.'s results, in which the effect also appeared with nonwords and foreign words. Cutler et al. suggested that CVCV-sequences might simply be easier to perceive than CVCC-sequences. The present study confirms this suggestion, and explains it as a reflection of listener expectations constructed on the basis of distributional characteristics of the language.
  • Cutler, A., & Otake, T. (1997). Contrastive studies of spoken-language processing. Journal of Phonetic Society of Japan, 1, 4-13.
  • Cutler, A., & Davis, C. (2012). An orthographic effect in phoneme processing, and its limitations. Frontiers in Psychology, 3, 18. doi:10.3389/fpsyg.2012.00018.

    Abstract

    To examine whether lexically stored knowledge about spelling influences phoneme evaluation, we conducted three experiments with a low-level phonetic judgement task: phoneme goodness rating. In each experiment, listeners heard phonetic tokens varying along a continuum centred on /s/, occurring finally in isolated word or nonword tokens. An effect of spelling appeared in Experiment 1: Native English speakers’ goodness ratings for the best /s/ tokens were significantly higher in words spelled with S (e.g., bless) than in words spelled with C (e.g., voice). No such difference appeared when nonnative speakers rated the same materials in Experiment 2, indicating that the difference could not be due to acoustic characteristics of the S- versus C-words. In Experiment 3, nonwords with lexical neighbours consistently spelled with S (e.g., pless) versus with C (e.g., floice) failed to elicit orthographic neighbourhood effects; no significant difference appeared in native English speakers’ ratings for the S-consistent versus the C-consistent sets. Obligatory influence of lexical knowledge on phonemic processing would have predicted such neighbourhood effects; the findings are thus better accommodated by models in which phonemic decisions draw strategically upon lexical information.
  • Cutler, A. (2014). In thrall to the vocabulary. Acoustics Australia, 42, 84-89.

    Abstract

    Vocabularies contain hundreds of thousands of words built from only a handful of phonemes; longer words inevitably tend to contain shorter ones. Recognising speech thus requires distinguishing intended words from accidentally present ones. Acoustic information in speech is used wherever it contributes significantly to this process; but as this review shows, its contribution differs across languages, with the consequences of this including: identical and equivalently present information distinguishing the same phonemes being used in Polish but not in German, or in English but not in Italian; identical stress cues being used in Dutch but not in English; expectations about likely embedding patterns differing across English, French, Japanese.
  • Cutler, A. (2009). Greater sensitivity to prosodic goodness in non-native than in native listeners. Journal of the Acoustical Society of America, 125, 3522-3525. doi:10.1121/1.3117434.

    Abstract

    English listeners largely disregard suprasegmental cues to stress in recognizing words. Evidence for this includes the demonstration of Fear et al. [J. Acoust. Soc. Am. 97, 1893–1904 (1995)] that cross-splicings are tolerated between stressed and unstressed full vowels (e.g., au- of autumn, automata). Dutch listeners, however, do exploit suprasegmental stress cues in recognizing native-language words. In this study, Dutch listeners were presented with English materials from the study of Fear et al. Acceptability ratings by these listeners revealed sensitivity to suprasegmental mismatch, in particular, in replacements of unstressed full vowels by higher-stressed vowels, thus evincing greater sensitivity to prosodic goodness than had been shown by the original native listener group.
  • Cutler, A. (1976). High-stress words are easier to perceive than low-stress words, even when they are equally stressed. Texas Linguistic Forum, 2, 53-57.
  • Cutler, A., & Chen, H.-C. (1997). Lexical tone in Cantonese spoken-word processing. Perception and Psychophysics, 59, 165-179. Retrieved from http://www.psychonomic.org/search/view.cgi?id=778.

    Abstract

    In three experiments, the processing of lexical tone in Cantonese was examined. Cantonese listeners more often accepted a nonword as a word when the only difference between the nonword and the word was in tone, especially when the F0 onset difference between correct and erroneous tone was small. Same–different judgments by these listeners were also slower and less accurate when the only difference between two syllables was in tone, and this was true whether the F0 onset difference between the two tones was large or small. Listeners with no knowledge of Cantonese produced essentially the same same-different judgment pattern as that produced by the native listeners, suggesting that the results display the effects of simple perceptual processing rather than of linguistic knowledge. It is argued that the processing of lexical tone distinctions may be slowed, relative to the processing of segmental distinctions, and that, in speeded-response tasks, tone is thus more likely to be misprocessed than is segmental structure.
  • Cutler, A., Mehler, J., Norris, D., & Segui, J. (1988). Limits on bilingualism [Letters to Nature]. Nature, 340, 229-230. doi:10.1038/340229a0.

    Abstract

    SPEECH, in any language, is continuous; speakers provide few reliable cues to the boundaries of words, phrases, or other meaningful units. To understand speech, listeners must divide the continuous speech stream into portions that correspond to such units. This segmentation process is so basic to human language comprehension that psycholinguists long assumed that all speakers would do it in the same way. In previous research1,2, however, we reported that segmentation routines can be language-specific: speakers of French process spoken words syllable by syllable, but speakers of English do not. French has relatively clear syllable boundaries and syllable-based timing patterns, whereas English has relatively unclear syllable boundaries and stress-based timing; thus syllabic segmentation would work more efficiently in the comprehension of French than in the comprehension of English. Our present study suggests that at this level of language processing, there are limits to bilingualism: a bilingual speaker has one and only one basic language.
  • Cutler, A. (2012). Native listening: The flexibility dimension. Dutch Journal of Applied Linguistics, 1(2), 169-187.

    Abstract

    The way we listen to spoken language is tailored to the specific benefit of native-language speech input. Listening to speech in non-native languages can be significantly hindered by this native bias. Is it possible to determine the degree to which a listener is listening in a native-like manner? Promising indications of how this question may be tackled are provided by new research findings concerning the great flexibility that characterises listening to the L1, in online adjustment of phonetic category boundaries for adaptation across talkers, and in modulation of lexical dynamics for adjustment across listening conditions. This flexibility pays off in many dimensions, including listening in noise, adaptation across dialects, and identification of voices. These findings further illuminate the robustness and flexibility of native listening, and potentially point to ways in which we might begin to assess degrees of ‘native-likeness’ in this skill.
  • Cutler, A., Mehler, J., Norris, D., & Segui, J. (1987). Phoneme identification and the lexicon. Cognitive Psychology, 19, 141-177. doi:10.1016/0010-0285(87)90010-7.
  • Cutler, A. (1976). Phoneme-monitoring reaction time as a function of preceding intonation contour. Perception and Psychophysics, 20, 55-60. Retrieved from http://www.psychonomic.org/search/view.cgi?id=18194.

    Abstract

    An acoustically invariant one-word segment occurred in two versions of one syntactic context. In one version, the preceding intonation contour indicated that a stress would fall at the point where this word occurred. In the other version, the preceding contour predicted reduced stress at that point. Reaction time to the initial phoneme of the word was faster in the former case, despite the fact that no acoustic correlates of stress were present. It is concluded that a part of the sentence comprehension process is the prediction of upcoming sentence accents.
  • Cutler, A., Otake, T., & Bruggeman, L. (2012). Phonologically determined asymmetries in vocabulary structure across languages. Journal of the Acoustical Society of America, 132(2), EL155-EL160. doi:10.1121/1.4737596.

    Abstract

    Studies of spoken-word recognition have revealed that competition from embedded words differs in strength as a function of where in the carrier word the embedded word is found and have further shown embedding patterns to be skewed such that embeddings in initial position in carriers outnumber embeddings in final position. Lexico-statistical analyses show that this skew is highly attenuated in Japanese, a noninflectional language. Comparison of the extent of the asymmetry in the three Germanic languages English, Dutch, and German allows the source to be traced to a combination of suffixal morphology and vowel reduction in unstressed syllables.
  • Cutler, A. (1991). Proceed with caution. New Scientist, (1799), 53-54.
  • Cutler, A., Dahan, D., & Van Donselaar, W. (1997). Prosody in the comprehension of spoken language: A literature review. Language and Speech, 40, 141-201.

    Abstract

    Research on the exploitation of prosodic information in the recognition of spoken language is reviewed. The research falls into three main areas: the use of prosody in the recognition of spoken words, in which most attention has been paid to the question of whether the prosodic structure of a word plays a role in initial contact with stored lexical representations; the use of prosody in the computation of syntactic structure, in which the resolution of global and local ambiguities has formed the central focus; and the role of prosody in the processing of discourse structure, in which there has been a preponderance of work on the contribution of accentuation and deaccentuation to integration of concepts with an existing discourse model. The review reveals that in each area progress has been made towards new conceptions of prosody's role in processing, and in particular this has involved abandonment of previously held deterministic views of the relationship between prosodic structure and other aspects of linguistic structure
  • Cutler, A. (1997). The comparative perspective on spoken-language processing. Speech Communication, 21, 3-15. doi:10.1016/S0167-6393(96)00075-1.

    Abstract

    Psycholinguists strive to construct a model of human language processing in general. But this does not imply that they should confine their research to universal aspects of linguistic structure, and avoid research on language-specific phenomena. First, even universal characteristics of language structure can only be accurately observed cross-linguistically. This point is illustrated here by research on the role of the syllable in spoken-word recognition, on the perceptual processing of vowels versus consonants, and on the contribution of phonetic assimilation phonemena to phoneme identification. In each case, it is only by looking at the pattern of effects across languages that it is possible to understand the general principle. Second, language-specific processing can certainly shed light on the universal model of language comprehension. This second point is illustrated by studies of the exploitation of vowel harmony in the lexical segmentation of Finnish, of the recognition of Dutch words with and without vowel epenthesis, and of the contribution of different kinds of lexical prosodic structure (tone, pitch accent, stress) to the initial activation of candidate words in lexical access. In each case, aspects of the universal processing model are revealed by analysis of these language-specific effects. In short, the study of spoken-language processing by human listeners requires cross-linguistic comparison.
  • Cutler, A., Butterfield, S., & Williams, J. (1987). The perceptual integrity of syllabic onsets. Journal of Memory and Language, 26, 406-418. doi:10.1016/0749-596X(87)90099-4.
  • Cutler, A., & Carter, D. (1987). The predominance of strong initial syllables in the English vocabulary. Computer Speech and Language, 2, 133-142. doi:10.1016/0885-2308(87)90004-0.

    Abstract

    Studies of human speech processing have provided evidence for a segmentation strategy in the perception of continuous speech, whereby a word boundary is postulated, and a lexical access procedure initiated, at each metrically strong syllable. The likely success of this strategy was here estimated against the characteristics of the English vocabulary. Two computerized dictionaries were found to list approximately three times as many words beginning with strong syllables (i.e. syllables containing a full vowel) as beginning with weak syllables (i.e. syllables containing a reduced vowel). Consideration of frequency of lexical word occurrence reveals that words beginning with strong syllables occur on average more often than words beginning with weak syllables. Together, these findings motivate an estimate for everyday speech recognition that approximately 85% of lexical words (i.e. excluding function words) will begin with strong syllables. This estimate was tested against a corpus of 190 000 words of spontaneous British English conversion. In this corpus, 90% of lexical words were found to begin with strong syllables. This suggests that a strategy of postulating word boundaries at the onset of strong syllables would have a high success rate in that few actual lexical word onsets would be missed.
  • Cutler, A., & Norris, D. (1988). The role of strong syllables in segmentation for lexical access. Journal of Experimental Psychology: Human Perception and Performance, 14, 113-121. doi:10.1037/0096-1523.14.1.113.

    Abstract

    A model of speech segmentation in a stress language is proposed, according to which the occurrence of a strong syllable triggers segmentation of the speech signal, whereas occurrence of a weak syllable does not trigger segmentation. We report experiments in which listeners detected words embedded in nonsense bisyllables more slowly when the bisyllable had two strong syllables than when it had a strong and a weak syllable; mint was detected more slowly in mintayve than in mintesh. According to our proposed model, this result is an effect of segmentation: When the second syllable is strong, it is segmented from the first syllable, and successful detection of the embedded word therefore requires assembly of speech material across a segmentation position. Speech recognition models involving phonemic or syllabic recoding, or based on strictly left-to-right processes, do not predict this result. It is argued that segmentation at strong syllables in continuous speech recognition serves the purpose of detecting the most efficient locations at which to initiate lexical access. (C) 1988 by the American Psychological Association
  • Cutler, A. (1997). The syllable’s role in the segmentation of stress languages. Language and Cognitive Processes, 12, 839-845. doi:10.1080/016909697386718.
  • Cutler, A., Otake, T., & McQueen, J. M. (2009). Vowel devoicing and the perception of spoken Japanese words. Journal of the Acoustical Society of America, 125(3), 1693-1703. doi:10.1121/1.3075556.

    Abstract

    Three experiments, in which Japanese listeners detected Japanese words embedded in nonsense sequences, examined the perceptual consequences of vowel devoicing in that language. Since vowelless sequences disrupt speech segmentation [Norris et al. (1997). Cognit. Psychol. 34, 191– 243], devoicing is potentially problematic for perception. Words in initial position in nonsense sequences were detected more easily when followed by a sequence containing a vowel than by a vowelless segment (with or without further context), and vowelless segments that were potential devoicing environments were no easier than those not allowing devoicing. Thus asa, “morning,” was easier in asau or asazu than in all of asap, asapdo, asaf, or asafte, despite the fact that the /f/ in the latter two is a possible realization of fu, with devoiced [u]. Japanese listeners thus do not treat devoicing contexts as if they always contain vowels. Words in final position in nonsense sequences, however, produced a different pattern: here, preceding vowelless contexts allowing devoicing impeded word detection less strongly (so, sake was detected less accurately, but not less rapidly, in nyaksake—possibly arising from nyakusake—than in nyagusake). This is consistent with listeners treating consonant sequences as potential realizations of parts of existing lexical candidates wherever possible.
  • Cutler, A. (1987). The task of the speaker and the task of the hearer [Commentary/Sperber & Wilson: Relevance]. Behavioral and Brain Sciences, 10, 715-716.
  • Cutler, A., & Butterfield, S. (1991). Word boundary cues in clear speech: A supplementary report. Speech Communication, 10, 335-353. doi:10.1016/0167-6393(91)90002-B.

    Abstract

    One of a listener's major tasks in understanding continuous speech is segmenting the speech signal into separate words. When listening conditions are difficult, speakers can help listeners by deliberately speaking more clearly. In four experiments, we examined how word boundaries are produced in deliberately clear speech. In an earlier report we showed that speakers do indeed mark word boundaries in clear speech, by pausing at the boundary and lengthening pre-boundary syllables; moreover, these effects are applied particularly to boundaries preceding weak syllables. In English, listeners use segmentation procedures which make word boundaries before strong syllables easier to perceive; thus marking word boundaries before weak syllables in clear speech will make clear precisely those boundaries which are otherwise hard to perceive. The present report presents supplementary data, namely prosodic analyses of the syllable following a critical word boundary. More lengthening and greater increases in intensity were applied in clear speech to weak syllables than to strong. Mean F0 was also increased to a greater extent on weak syllables than on strong. Pitch movement, however, increased to a greater extent on strong syllables than on weak. The effects were, however, very small in comparison to the durational effects we observed earlier for syllables preceding the boundary and for pauses at the boundary.
  • Cychosz, M., Cristia, A., Bergelson, E., Casillas, M., Baudet, G., Warlaumont, A. S., Scaff, C., Yankowitz, L., & Seidl, A. (2021). Vocal development in a large‐scale crosslinguistic corpus. Developmental Science, 24(5): e13090. doi:10.1111/desc.13090.

    Abstract

    This study evaluates whether early vocalizations develop in similar ways in children across diverse cultural contexts. We analyze data from daylong audio recordings of 49 children (1–36 months) from five different language/cultural backgrounds. Citizen scientists annotated these recordings to determine if child vocalizations contained canonical transitions or not (e.g., “ba” vs. “ee”). Results revealed that the proportion of clips reported to contain canonical transitions increased with age. Furthermore, this proportion exceeded 0.15 by around 7 months, replicating and extending previous findings on canonical vocalization development but using data from the natural environments of a culturally and linguistically diverse sample. This work explores how crowdsourcing can be used to annotate corpora, helping establish developmental milestones relevant to multiple languages and cultures. Lower inter‐annotator reliability on the crowdsourcing platform, relative to more traditional in‐lab expert annotators, means that a larger number of unique annotators and/or annotations are required, and that crowdsourcing may not be a suitable method for more fine‐grained annotation decisions. Audio clips used for this project are compiled into a large‐scale infant vocalization corpus that is available for other researchers to use in future work.

    Additional information

    supporting information audio data
  • Cysouw, M., Dediu, D., & Moran, S. (2012). Comment on “Phonemic Diversity Supports a Serial Founder Effect Model of Language Expansion from Africa”. Science, 335, 657-b. doi:10.1126/science.1208841.

    Abstract

    We show that Atkinson’s (Reports, 15 April 2011, p. 346) intriguing proposal—that global
    linguistic diversity supports a single language origin in Africa—is an artifact of using suboptimal
    data, biased methodology, and unjustified assumptions. We criticize his approach using more
    suitable data, and we additionally provide new results suggesting a more complex scenario for the
    emergence of global linguistic diversity.
  • Dabrowska, E., Rowland, C. F., & Theakston, A. (2009). The acquisition of questions with long-distance dependencies. Cognitive Linguistics, 20(3), 571-597. doi:10.1515/COGL.2009.025.

    Abstract

    A number of researchers have claimed that questions and other constructions with long distance dependencies (LDDs) are acquired relatively early, by age 4 or even earlier, in spite of their complexity. Analysis of LDD questions in the input available to children suggests that they are extremely stereotypical, raising the possibility that children learn lexically specific templates such as WH do you think S-GAP? rather than general rules of the kind postulated in traditional linguistic accounts of this construction. We describe three elicited imitation experiments with children aged from 4;6 to 6;9 and adult controls. Participants were asked to repeat prototypical questions (i.e., questions which match the hypothesised template), unprototypical questions (which depart from it in several respects) and declarative counterparts of both types of interrogative sentences. The children performed significantly better on the prototypical variants of both constructions, even when both variants contained exactly the same lexical material, while adults showed prototypicality e¤ects for LDD questions only. These results suggest that a general declarative complementation construction emerges quite late in development (after age 6), and that even adults rely on lexically specific templates for LDD questions.
  • Dagklis, A., Ponzoni, M., Govi, S., Cangi, M. G., Pasini, E., Charlotte, F., Vino, A., Doglioni, C., Davi, F., Lossos, I. S., Ntountas, I., Papadaki, T., Dolcetti, R., Ferreri, A. J. M., Stamatopoulos, K., & Ghia, P. (2012). Immunoglobulin gene repertoire in ocular adnexal lymphomas: hints on the nature of the antigenic stimulation. Leukemia, 26, 814-821. doi:10.1038/leu.2011.276.

    Abstract

    Evidence from certain geographical areas links lymphomas of the ocular adnexa marginal zone B-cell lymphomas (OAMZL) with Chlamydophila psittaci (Cp) infection, suggesting that lymphoma development is dependent upon chronic stimulation by persistent infections. Notwithstanding that, the actual immunopathogenetical mechanisms have not yet been elucidated. As in other B-cell lymphomas, insight into this issue, especially with regard to potential selecting ligands, could be provided by analysis of the immunoglobulin (IG) receptors of the malignant clones. To this end, we studied the molecular features of IGs in 44 patients with OAMZL (40% Cp-positive), identifying features suggestive of a pathogenic mechanism of autoreactivity. Herein, we show that lymphoma cells express a distinctive IG repertoire, with electropositive antigen (Ag)-binding sites, reminiscent of autoantibodies (auto-Abs) recognizing DNA. Additionally, five (11%) cases of OAMZL expressed IGs homologous with autoreactive Abs or IGs of patients with chronic lymphocytic leukemia, a disease known for the expression of autoreactive IGs by neoplastic cells. In contrast, no similarity with known anti-Chlamydophila Abs was found. Taken together, these results strongly indicate that OAMZL may originate from B cells selected for their capability to bind Ags and, in particular, auto-Ags. In OAMZL associated with Cp infection, the pathogen likely acts indirectly on the malignant B cells, promoting the development of an inflammatory milieu, where auto-Ags could be exposed and presented, driving proliferation and expansion of self-reactive B cells.
  • Dautriche, I., Cristia, A., Brusini, P., Yuan, S., Fisher, C., & Christophe, A. (2014). Toddlers default to canonical surface-to-meaning mapping when learning verbs. Child Development, 85(3), 1168-1180. doi:10.1111/cdev.12183.

    Abstract

    This work was supported by grants from the French Agence Nationale de la Recherche (ANR-2010-BLAN-1901) and from French Fondation de France to Anne Christophe, from the National Institute of Child Health and Human Development (HD054448) to Cynthia Fisher, Fondation Fyssen and Ecole de Neurosciences de Paris to Alex Cristia, and a PhD fellowship from the Direction Générale de l'Armement (DGA, France) supported by the PhD program FdV (Frontières du Vivant) to Isabelle Dautriche. We thank Isabelle Brunet for the recruitment, Michel Dutat for the technical support, and Hernan Anllo for his puppet mastery skill. We are grateful to the families that participated in this study. We also thank two anonymous reviewers for their comments on an earlier draft of this manuscript.
  • Davids, N., Van den Brink, D., Van Turennout, M., Mitterer, H., & Verhoeven, L. (2009). Towards neurophysiological assessment of phonemic discrimination: Context effects of the mismatch negativity. Clinical Neurophysiology, 120, 1078-1086. doi:10.1016/j.clinph.2009.01.018.

    Abstract

    This study focusses on the optimal paradigm for simultaneous assessment of auditory and phonemic discrimination in clinical populations. We investigated (a) whether pitch and phonemic deviants presented together in one sequence are able to elicit mismatch negativities (MMNs) in healthy adults and (b) whether MMN elicited by a change in pitch is modulated by the presence of the phonemic deviants.
  • Davidson, D. J., Hanulikova, A., & Indefrey, P. (2012). Electrophysiological correlates of morphosyntactic integration in German phrasal context. Language and Cognitive Processes, 27, 288-311. doi:10.1080/01690965.2011.616448.

    Abstract

    The morphosyntactic paradigm of an inflected word can influence isolated word recognition, but its role in multiple-word phrasal integration is less clear. We examined the electrophysiological response to adjectives in short German prepositional phrases to evaluate whether strong and weak forms of the adjective show a differential response, and whether paradigm variables are related to this response. Twenty native German speakers classified serially presented phrases as grammatically correct or not while the electroencephalogram (EEG) was recorded. A functional mixed effects model of the response to grammatically correct trials revealed a differential response to strong and weak forms of the adjectives. This response difference depended on whether the preceding preposition imposed accusative or dative case. The lexically conditioned information content of the adjectives modulated a later interval of the response. The results indicate that grammatical context modulates the response to morphosyntactic information content, and lends support to the role of paradigm structure in integrative phrasal processing.
  • Davidson, D. J., & Indefrey, P. (2009). An event-related potential study on changes of violation and error responses during morphosyntactic learning. Journal of Cognitive Neuroscience, 21(3), 433-446. Retrieved from http://www.mitpressjournals.org/doi/pdf/10.1162/jocn.2008.21031.

    Abstract

    Based on recent findings showing electrophysiological changes in adult language learners after relatively short periods of training, we hypothesized that adult Dutch learners of German would show responses to German gender and adjective declension violations after brief instruction. Adjective declension in German differs from previously studied morphosyntactic regularities in that the required suffixes depend not only on the syntactic case, gender, and number features to be expressed, but also on whether or not these features are already expressed on linearly preceding elements in the noun phrase. Violation phrases and matched controls were presented over three test phases (pretest and training on the first day, and a posttest one week later). During the pretest, no electrophysiological differences were observed between violation and control conditions, and participants’ classification performance was near chance. During the training and posttest phases, classification improved, and there was a P600-like violation response to declension but not gender violations. An error-related response during training was associated with improvement in grammatical discrimination from pretest to posttest. The results show that rapid changes in neuronal responses can be observed in adult learners of a complex morphosyntactic rule, and also that error-related electrophysiological responses may relate to grammar acquisition.
  • Davidson, D. J., & Indefrey, P. (2009). Plasticity of grammatical recursion in German learners of Dutch. Language and Cognitive Processes, 24, 1335-1369. doi:10.1080/01690960902981883.

    Abstract

    Previous studies have examined cross-serial and embedded complement clauses in West Germanic in order to distinguish between different types of working memory models of human sentence processing, as well as different formal language models. Here, adult plasticity in the use of these constructions is investigated by examining the response of German-speaking learners of Dutch using magnetoencephalography (MEG). In three experimental sessions spanning their initial acquisition of Dutch, participants performed a sentence-scene matching task with Dutch sentences including two different verb constituent orders (Dutch verb order, German verb order), and in addition rated similar constructions in a separate rating task. The average planar gradient of the evoked field to the initial verb within the cluster revealed a larger evoked response for the German order relative to the Dutch order between 0.2 to 0.4 s over frontal sensors after 2 weeks, but not initially. The rating data showed that constructions consistent with Dutch grammar, but inconsistent with the German grammar were initially rated as unacceptable, but this preference reversed after 3 months. The behavioural and electrophysiological results suggest that cortical responses to verb order preferences in complement clauses can change within 3 months after the onset of adult language learning, implying that this aspect of grammatical processing remains plastic into adulthood.
  • Davies, R., Kidd, E., & Lander, K. (2009). Investigating the psycholinguistic correlates of speechreading in preschool age children. International Journal of Language & Communication Disorders, 44(2), 164-174. doi:10.1080/13682820801997189.

    Abstract

    Background: Previous research has found that newborn infants can match phonetic information in the lips and voice from as young as ten weeks old. There is evidence that access to visual speech is necessary for normal speech development. Although we have an understanding of this early sensitivity, very little research has investigated older children's ability to speechread whole words. Aims: The aim of this study was to identify aspects of preschool children's linguistic knowledge and processing ability that may contribute to speechreading ability. We predicted a significant correlation between receptive vocabulary and speechreading, as well as phonological working memory to be a predictor of speechreading performance. Methods & Procedures: Seventy-six children (n = 76) aged between 2;10 and 4;11 years participated. Children were given three pictures and were asked to point to the picture that they thought that the experimenter had silently mouthed (ten trials). Receptive vocabulary and phonological working memory were also assessed. The results were analysed using Pearson correlations and multiple regressions. Outcomes & Results: The results demonstrated that the children could speechread at a rate greater than chance. Pearson correlations revealed significant, positive correlations between receptive vocabulary and speechreading score, phonological error rate and age. Further correlations revealed significant, positive relationships between The Children's Test of Non-Word Repetition (CNRep) and speechreading score, phonological error rate and age. Multiple regression analyses showed that receptive vocabulary best predicts speechreading ability over and above phonological working memory. Conclusions & Implications: The results suggest that preschool children are capable of speechreading, and that this ability is related to vocabulary size. This suggests that children aged between 2;10 and 4;11 are sensitive to visual information in the form of audio-visual mappings. We suggest that current and future therapies are correct to include visual feedback as a therapeutic tool; however, future research needs to be conducted in order to elucidate further the role of speechreading in development.
  • Decuyper, C., Brysbaert, M., Brodeur, M. B., & Meyer, A. S. (2021). Bank of Standardized Stimuli (BOSS): Dutch names for 1400 photographs. Journal of Cognition, 4(1): 33. doi:10.5334/joc.180.

    Abstract

    We present written naming norms from 153 young adult Dutch speakers for 1397 photographs (the BOSS set; see Brodeur, Dionne-Dostie, Montreuil, & Lepage, 2010; Brodeur, Guérard, & Bouras, 2014). From the norming study, we report the preferred (modal) name, alternative names, name agreement, and average object agreement. In addition, the data base includes Zipf frequency, word prevalence and Age of Acquisition for the modal picture names collected. Furthermore, we describe a subset of 359 photographs with very good name agreement and a subset of 35 photos with two common names. These sets may be particularly valuable for designing experiments. Though the participants typed the object names, comparisons with other datasets indicate that the collected norms are valuable for spoken naming studies as well.
  • Dediu, D., & Levinson, S. C. (2012). Abstract profiles of structural stability point to universal tendencies, family-specific factors, and ancient connections between languages. PLoS One, 7(9), e45198. doi:10.1371/journal.pone.0045198.

    Abstract

    Language is the best example of a cultural evolutionary system, able to retain a phylogenetic signal over many thousands of years. The temporal stability (conservatism) of basic vocabulary is relatively well understood, but the stability of the structural properties of language (phonology, morphology, syntax) is still unclear. Here we report an extensive Bayesian phylogenetic investigation of the structural stability of numerous features across many language families and we introduce a novel method for analyzing the relationships between the “stability profiles” of language families. We found that there is a strong universal component across language families, suggesting the existence of universal linguistic, cognitive and genetic constraints. Against this background, however, each language family has a distinct stability profile, and these profiles cluster by geographic area and likely deep genealogical relationships. These stability profiles reveal, for example, the ancient historical relationships between the Siberian and American language families, presumed to be separated by at least 12,000 years. Thus, such higher-level properties of language seen as an evolutionary system might allow the investigation of ancient connections between languages and shed light on the peopling of the world.

    Additional information

    journal.pone.0045198.s001.pdf
  • Dediu, D. (2009). Genetic biasing through cultural transmission: Do simple Bayesian models of language evolution generalize? Journal of Theoretical Biology, 259, 552-561. doi:10.1016/j.jtbi.2009.04.004.

    Abstract

    The recent Bayesian approaches to language evolution and change seem to suggest that genetic biases can impact on the characteristics of language, but, at the same time, that its cultural transmission can partially free it from these same genetic constraints. One of the current debates centres on the striking differences between sampling and a posteriori maximising Bayesian learners, with the first converging on the prior bias while the latter allows a certain freedom to language evolution. The present paper shows that this difference disappears if populations more complex than a single teacher and a single learner are considered, with the resulting behaviours more similar to the sampler. This suggests that generalisations based on the language produced by Bayesian agents in such homogeneous single agent chains are not warranted. It is not clear which of the assumptions in such models are responsible, but these findings seem to support the rising concerns on the validity of the “acquisitionist” assumption, whereby the locus of language change and evolution is taken to be the first language acquirers (children) as opposed to the competent language users (the adults).
  • Dediu, D., & Dingemanse, M. (2012). More than accent: Linguistic and cultural cues in the emergence of tag-based cooperation [Commentary]. Current Anthropology, 53, 606-607. doi:10.1086/667654.

    Abstract

    Commentary on Cohen, E. (2012). The evolution of tag-based cooperation in humans: The case for accent. Current Anthropology, 53, 588-616. doi:10.1086/667654.
  • Defina, R. (2014). Arbil: Free tool for creating, editing and searching metadata. Language Documentation and Conservation, 8, 307-314.
  • DeMayo, B., Kellier, D., Braginsky, M., Bergmann, C., Hendriks, C., Rowland, C. F., Frank, M., & Marchman, V. (2021). Web-CDI: A system for online administration of the MacArthur-Bates Communicative Development Inventories. Language Development Research, 10.34758/kr8e-w591. doi:10.34758/kr8e-w591.

    Abstract

    Understanding the mechanisms that drive variation in children’s language acquisition requires large, population-representative datasets of children’s word learning across development. Parent report measures such as the MacArthur-Bates Communicative Development Inventories (CDI) are commonly used to collect such data, but the traditional paper-based forms make the curation of large datasets logistically challenging. Many CDI datasets are thus gathered using convenience samples, often recruited from communities in proximity to major research institutions. Here, we introduce Web-CDI, a web-based tool which allows researchers to collect CDI data online. Web-CDI contains functionality to collect and manage longitudinal data, share links to test administrations, and download vocabulary scores. To date, over 3,500 valid Web-CDI administrations have been completed. General trends found in past norming studies of the CDI are present in data collected from Web-CDI: scores of children’s productive vocabulary grow with age, female children show a slightly faster rate of vocabulary growth, and participants with higher levels of educational attainment report slightly higher vocabulary production scores than those with lower levels of education attainment. We also report results from an effort to oversample non-white, lower-education participants via online recruitment (N = 241). These data showed similar demographic trends to the full sample but this effort resulted in a high exclusion rate. We conclude by discussing implications and challenges for the collection of large, population-representative datasets.

    Additional information

    data and code
  • Demir, Ö. E., So, W.-C., Ozyurek, A., & Goldin-Meadow, S. (2012). Turkish- and English-speaking children display sensitivity to perceptual context in referring expressions they produce in speech and gesture. Language and Cognitive Processes, 27, 844 -867. doi:10.1080/01690965.2011.589273.

    Abstract

    Speakers choose a particular expression based on many factors, including availability of the referent in the perceptual context. We examined whether, when expressing referents, monolingual English- and Turkish-speaking children: (1) are sensitive to perceptual context, (2) express this sensitivity in language-specific ways, and (3) use co-speech gestures to specify referents that are underspecified. We also explored the mechanisms underlying children's sensitivity to perceptual context. Children described short vignettes to an experimenter under two conditions: The characters in the vignettes were present in the perceptual context (perceptual context); the characters were absent (no perceptual context). Children routinely used nouns in the no perceptual context condition, but shifted to pronouns (English-speaking children) or omitted arguments (Turkish-speaking children) in the perceptual context condition. Turkish-speaking children used underspecified referents more frequently than English-speaking children in the perceptual context condition; however, they compensated for the difference by using gesture to specify the forms. Gesture thus gives children learning structurally different languages a way to achieve comparable levels of specification while at the same time adhering to the referential expressions dictated by their language.
  • Den Hoed, J., Devaraju, K., & Fisher, S. E. (2021). Molecular networks of the FOXP2 transcription factor in the brain. EMBO Reports, 22(8): e52803. doi:10.15252/embr.202152803.

    Abstract

    The discovery of the FOXP2 transcription factor, and its implication in a rare severe human speech and language disorder, has led to two decades of empirical studies focused on uncovering its roles in the brain using a range of in vitro and in vivo methods. Here, we discuss what we have learned about the regulation of FOXP2, its downstream effectors, and its modes of action as a transcription factor in brain development and function, providing an integrated overview of what is currently known about the critical molecular networks.
  • Den Hoed, J., De Boer, E., Voisin, N., Dingemans, A. J. M., Guex, N., Wiel, L., Nellaker, C., Amudhavalli, S. M., Banka, S., Bena, F. S., Ben-Zeev, B., Bonagura, V. R., Bruel, A.-L., Brunet, T., Brunner, H. G., Chew, H. B., Chrast, J., Cimbalistienė, L., Coon, H., The DDD study, Délot, E. C. and 77 moreDen Hoed, J., De Boer, E., Voisin, N., Dingemans, A. J. M., Guex, N., Wiel, L., Nellaker, C., Amudhavalli, S. M., Banka, S., Bena, F. S., Ben-Zeev, B., Bonagura, V. R., Bruel, A.-L., Brunet, T., Brunner, H. G., Chew, H. B., Chrast, J., Cimbalistienė, L., Coon, H., The DDD study, Délot, E. C., Démurger, F., Denommé-Pichon, A.-S., Depienne, C., Donnai, D., Dyment, D. A., Elpeleg, O., Faivre, L., Gilissen, C., Granger, L., Haber, B., Hachiya, Y., Hamzavi Abedi, Y., Hanebeck, J., Hehir-Kwa, J. Y., Horist, B., Itai, T., Jackson, A., Jewell, R., Jones, K. L., Joss, S., Kashii, H., Kato, M., Kattentidt-Mouravieva, A. A., Kok, F., Kotzaeridou, U., Krishnamurthy, V., Kučinskas, V., Kuechler, A., Lavillaureix, A., Liu, P., Manwaring, L., Matsumoto, N., Mazel, B., McWalter, K., Meiner, V., Mikati, M. A., Miyatake, S., Mizuguchi, T., Moey, L. H., Mohammed, S., Mor-Shaked, H., Mountford, H., Newbury-Ecob, R., Odent, S., Orec, L., Osmond, M., Palculict, T. B., Parker, M., Petersen, A., Pfundt, R., Preikšaitienė, E., Radtke, K., Ranza, E., Rosenfeld, J. A., Santiago-Sim, T., Schwager, C., Sinnema, M., Snijders Blok, L., Spillmann, R. C., Stegmann, A. P. A., Thiffault, I., Tran, L., Vaknin-Dembinsky, A., Vedovato-dos-Santos, J. H., Vergano, S. A., Vilain, E., Vitobello, A., Wagner, M., Waheeb, A., Willing, M., Zuccarelli, B., Kini, U., Newbury, D. F., Kleefstra, T., Reymond, A., Fisher, S. E., & Vissers, L. E. L. M. (2021). Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction. The American Journal of Human Genetics, 108(2), 346-356. doi:10.1016/j.ajhg.2021.01.007.

    Abstract

    Whereas large-scale statistical analyses can robustly identify disease-gene relationships, they do not accurately capture genotype-phenotype correlations or disease mechanisms. We use multiple lines of independent evidence to show that different variant types in a single gene, SATB1, cause clinically overlapping but distinct neurodevelopmental disorders. Clinical evaluation of 42 individuals carrying SATB1 variants identified overt genotype-phenotype relationships, associated with different pathophysiological mechanisms, established by functional assays. Missense variants in the CUT1 and CUT2 DNA-binding domains result in stronger chromatin binding, increased transcriptional repression and a severe phenotype. Contrastingly, variants predicted to result in haploinsufficiency are associated with a milder clinical presentation. A similarly mild phenotype is observed for individuals with premature protein truncating variants that escape nonsense-mediated decay and encode truncated proteins, which are transcriptionally active but mislocalized in the cell. Our results suggest that in-depth mutation-specific genotype-phenotype studies are essential to capture full disease complexity and to explain phenotypic variability.
  • DePape, A., Chen, A., Hall, G., & Trainor, L. (2012). Use of prosody and information structure in high functioning adults with Autism in relation to language ability. Frontiers in Psychology, 3, 72. doi:10.3389/fpsyg.2012.00072.

    Abstract

    Abnormal prosody is a striking feature of the speech of those with Autism Spectrum Disorder (ASD), but previous reports suggest large variability among those with ASD. Here we show that part of this heterogeneity can be explained by level of language functioning. We recorded semi-spontaneous but controlled conversations in adults with and without Autism Spectrum Disorder and measured features related to pitch and duration to determine (1) general use of prosodic features, (2) prosodic use in relation to marking information structure, specifically, the emphasis of new information in a sentence (focus) as opposed to information already given in the conversational context (topic), and (3) the relation between prosodic use and level of language function. We found that, compared to typical adults, those with ASD with high language functioning generally used a larger pitch range than controls but did not mark information structure, whereas those with moderate language functioning generally used a smaller pitch range than controls but marked information structure appropriately to a large extent. Both impaired general prosodic use and impaired marking of information structure would be expected to seriously impact social communication and thereby lead to increased difficulty in personal domains, such as making and keeping friendships, and in professional domains, such as competing for employment opportunities.
  • Deriziotis, P., O'Roak, B. J., Graham, S. A., Estruch, S. B., Dimitropoulou, D., Bernier, R. A., Gerdts, J., Shendure, J., Eichler, E. E., & Fisher, S. E. (2014). De novo TBR1 mutations in sporadic autism disrupt protein functions. Nature Communications, 5: 4954. doi:10.1038/ncomms5954.

    Abstract

    Next-generation sequencing recently revealed that recurrent disruptive mutations in a few genes may account for 1% of sporadic autism cases. Coupling these novel genetic data to empirical assays of protein function can illuminate crucial molecular networks. Here we demonstrate the power of the approach, performing the first functional analyses of TBR1 variants identified in sporadic autism. De novo truncating and missense mutations disrupt multiple aspects of TBR1 function, including subcellular localization, interactions with co-regulators and transcriptional repression. Missense mutations inherited from unaffected parents did not disturb function in our assays. We show that TBR1 homodimerizes, that it interacts with FOXP2, a transcription factor implicated in speech/language disorders, and that this interaction is disrupted by pathogenic mutations affecting either protein. These findings support the hypothesis that de novo mutations in sporadic autism have severe functional consequences. Moreover, they uncover neurogenetic mechanisms that bridge different neurodevelopmental disorders involving language deficits.
  • Deriziotis, P., Graham, S. A., Estruch, S. B., & Fisher, S. E. (2014). Investigating protein-protein interactions in live cells using Bioluminescence Resonance Energy Transfer. Journal of visualized experiments, 87: e51438. doi:10.3791/51438.

    Abstract

    Assays based on Bioluminescence Resonance Energy Transfer (BRET) provide a sensitive and reliable means to monitor protein-protein interactions in live cells. BRET is the non-radiative transfer of energy from a ‘donor’ luciferase enzyme to an ‘acceptor’ fluorescent protein. In the most common configuration of this assay, the donor is Renilla reniformis luciferase and the acceptor is Yellow Fluorescent Protein (YFP). Because the efficiency of energy transfer is strongly distance-dependent, observation of the BRET phenomenon requires that the donor and acceptor be in close proximity. To test for an interaction between two proteins of interest in cultured mammalian cells, one protein is expressed as a fusion with luciferase and the second as a fusion with YFP. An interaction between the two proteins of interest may bring the donor and acceptor sufficiently close for energy transfer to occur. Compared to other techniques for investigating protein-protein interactions, the BRET assay is sensitive, requires little hands-on time and few reagents, and is able to detect interactions which are weak, transient, or dependent on the biochemical environment found within a live cell. It is therefore an ideal approach for confirming putative interactions suggested by yeast two-hybrid or mass spectrometry proteomics studies, and in addition it is well-suited for mapping interacting regions, assessing the effect of post-translational modifications on protein-protein interactions, and evaluating the impact of mutations identified in patient DNA.

    Additional information

    video
  • Devanna, P., & Vernes, S. C. (2014). A direct molecular link between the autism candidate gene RORa and the schizophrenia candidate MIR137. Scientific Reports, 4: 3994. doi:10.1038/srep03994.

    Abstract

    Retinoic acid-related orphan receptor alpha gene (RORa) and the microRNA MIR137 have both recently been identified as novel candidate genes for neuropsychiatric disorders. RORa encodes a ligand-dependent orphan nuclear receptor that acts as a transcriptional regulator and miR-137 is a brain enriched small non-coding RNA that interacts with gene transcripts to control protein levels. Given the mounting evidence for RORa in autism spectrum disorders (ASD) and MIR137 in schizophrenia and ASD, we investigated if there was a functional biological relationship between these two genes. Herein, we demonstrate that miR-137 targets the 3'UTR of RORa in a site specific manner. We also provide further support for MIR137 as an autism candidate by showing that a large number of previously implicated autism genes are also putatively targeted by miR-137. This work supports the role of MIR137 as an ASD candidate and demonstrates a direct biological link between these previously unrelated autism candidate genes
  • Devanna, P., Middelbeek, J., & Vernes, S. C. (2014). FOXP2 drives neuronal differentiation by interacting with retinoic acid signaling pathways. Frontiers in Cellular Neuroscience, 8: 305. doi:10.3389/fncel.2014.00305.

    Abstract

    FOXP2 was the first gene shown to cause a Mendelian form of speech and language disorder. Although developmentally expressed in many organs, loss of a single copy of FOXP2 leads to a phenotype that is largely restricted to orofacial impairment during articulation and linguistic processing deficits. Why perturbed FOXP2 function affects specific aspects of the developing brain remains elusive. We investigated the role of FOXP2 in neuronal differentiation and found that FOXP2 drives molecular changes consistent with neuronal differentiation in a human model system. We identified a network of FOXP2 regulated genes related to retinoic acid signaling and neuronal differentiation. FOXP2 also produced phenotypic changes associated with neuronal differentiation including increased neurite outgrowth and reduced migration. Crucially, cells expressing FOXP2 displayed increased sensitivity to retinoic acid exposure. This suggests a mechanism by which FOXP2 may be able to increase the cellular differentiation response to environmental retinoic acid cues for specific subsets of neurons in the brain. These data demonstrate that FOXP2 promotes neuronal differentiation by interacting with the retinoic acid signaling pathway and regulates key processes required for normal circuit formation such as neuronal migration and neurite outgrowth. In this way, FOXP2, which is found only in specific subpopulations of neurons in the brain, may drive precise neuronal differentiation patterns and/or control localization and connectivity of these FOXP2 positive cells

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