Publications

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  • Ernestus, M., & Warner, N. (2011). An introduction to reduced pronunciation variants [Editorial]. Journal of Phonetics, 39(SI), 253-260. doi:10.1016/S0095-4470(11)00055-6.

    Abstract

    Words are often pronounced very differently in formal speech than in everyday conversations. In conversational speech, they may contain weaker segments, fewer sounds, and even fewer syllables. The English word yesterday, for instance, may be pronounced as [j epsilon integral eI]. This article forms an introduction to the phenomenon of reduced pronunciation variants and to the eight research articles in this issue on the characteristics, production, and comprehension of these variants. We provide a description of the phenomenon, addressing its high frequency of occurrence in casual conversations in various languages, the gradient nature of many reduction processes, and the intelligibility of reduced variants to native listeners. We also describe the relevance of research on reduced variants for linguistic and psychological theories as well as for applications in speech technology and foreign language acquisition. Since reduced variants occur more often in spontaneous than in formal speech, they are hard to study in the laboratory under well controlled conditions. We discuss the advantages and disadvantages of possible solutions, including the research methods employed in the articles in this special issue, based on corpora and experiments. This article ends with a short overview of the articles in this issue.
  • Ernestus, M., Giezenaar, G., & Dikmans, M. (2016). Ikfstajezotuuknie: Half uitgesproken woorden in alledaagse gesprekken. Les, 199, 7-9.

    Abstract

    Amsterdam klinkt in informele gesprekken vaak als Amsdam en Rotterdam als Rodam, zonder dat de meeste moedertaalsprekers zich daar bewust van zijn. In alledaagse situaties valt een aanzienlijk deel van de klanken weg. Daarnaast worden veel klanken zwakker gearticuleerd (bijvoorbeeld een d als een j, als de mond niet helemaal afgesloten wordt). Het lijkt waarschijnlijk dat deze half uitgesproken woorden een probleem vormen voor tweedetaalleerders. Gereduceerde vormen kunnen immers sterk afwijken van de vormen die deze leerders geleerd hebben. Of dit werkelijk zo is, hebben de auteurs onderzocht in twee studies. Voordat ze deze twee studies bespreken, vertellen ze eerst kort iets over de verschillende typen reducties die voorkomen.
  • Ernestus, M., Kouwenhoven, H., & Van Mulken, M. (2017). The direct and indirect effects of the phonotactic constraints in the listener's native language on the comprehension of reduced and unreduced word pronunciation variants in a foreign language. Journal of Phonetics, 62, 50-64. doi:10.1016/j.wocn.2017.02.003.

    Abstract

    This study investigates how the comprehension of casual speech in foreign languages is affected by the phonotactic constraints in the listener’s native language. Non-native listeners of English with different native languages heard short English phrases produced by native speakers of English or Spanish and they indicated whether these phrases included can or can’t. Native Mandarin listeners especially tended to interpret can’t as can. We interpret this result as a direct effect of the ban on word-final /nt/ in Mandarin. Both the native Mandarin and the native Spanish listeners did not take full advantage of the subsegmental information in the speech signal cueing reduced can’t. This finding is probably an indirect effect of the phonotactic constraints in their native languages: these listeners have difficulties interpreting the subsegmental cues because these cues do not occur or have different functions in their native languages. Dutch resembles English in the phonotactic constraints relevant to the comprehension of can’t, and native Dutch listeners showed similar patterns in their comprehension of native and non-native English to native English listeners. This result supports our conclusion that the major patterns in the comprehension results are driven by the phonotactic constraints in the listeners’ native languages.
  • Ernestus, M., & Warner, N. (Eds.). (2011). Speech reduction [Special Issue]. Journal of Phonetics, 39(SI).
  • Eryilmaz, K., & Little, H. (2017). Using Leap Motion to investigate the emergence of structure in speech and language. Behavior Research Methods, 49(5), 1748-1768. doi:10.3758/s13428-016-0818-x.

    Abstract

    In evolutionary linguistics, experiments using artificial signal spaces are being used to investigate the emergence of speech structure. These signal spaces need to be continuous, non-discretised spaces from which discrete units and patterns can emerge. They need to be dissimilar from - but comparable with - the vocal-tract, in order to minimise interference from pre-existing linguistic knowledge, while informing us about language. This is a hard balance to strike. This article outlines a new approach which uses the Leap Motion, an infra-red controller which can convert manual movement in 3d space into sound. The signal space using this approach is more flexible than signal spaces in previous attempts. Further, output data using this approach is simpler to arrange and analyse. The experimental interface was built using free, and mostly open source libraries in Python. We provide our source code for other researchers as open source.
  • Escudero, P., Broersma, M., & Simon, E. (2013). Learning words in a third language: Effects of vowel inventory and language proficiency. Language and Cognitive Processes, 28, 746-761. doi:10.1080/01690965.2012.662279.

    Abstract

    This study examines the effect of L2 and L3 proficiency on L3 word learning. Native speakers of Spanish with different proficiencies in L2 English and L3 Dutch and a control group of Dutch native speakers participated in a Dutch word learning task involving minimal and non-minimal word pairs. The minimal word pairs were divided into ‘minimal-easy’ and ‘minimal-difficult’ pairs on the basis of whether or not they are known to pose perceptual problems for L1 Spanish learners. Spanish speakers’ proficiency in Dutch and English was independently established by their scores on general language comprehension tests. All participants were trained and subsequently tested on the mapping between pseudo-words and non-objects. The results revealed that, first, both native and non-native speakers produced more errors and longer reaction times for minimal than for non-minimal word pairs, and secondly, Spanish learners had more errors and longer reaction times for minimal-difficult than for minimal-easy pairs. The latter finding suggests that there is a strong continuity between sound perception and L3 word recognition. With respect to proficiency, only the learner’s proficiency in their L2, namely English, predicted their accuracy on L3 minimal pairs. This shows that learning an L2 with a larger vowel inventory than the L1 is also beneficial for word learning in an L3 with a similarly large vowel inventory.

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  • Esteve-Gibert, N., Prieto, P., & Liszkowski, U. (2017). Twelve-month-olds understand social intentions based on prosody and gesture shape. Infancy, 22, 108-129. doi:10.1111/infa.12146.

    Abstract

    Infants infer social and pragmatic intentions underlying attention-directing gestures, but the basis on which infants make these inferences is not well understood. Previous studies suggest that infants rely on information from preceding shared action contexts and joint perceptual scenes. Here, we tested whether 12-month-olds use information from act-accompanying cues, in particular prosody and hand shape, to guide their pragmatic understanding. In Experiment 1, caregivers directed infants’ attention to an object to request it, share interest in it, or inform them about a hidden aspect. Caregivers used distinct prosodic and gestural patterns to express each pragmatic intention. Experiment 2 was identical except that experimenters provided identical lexical information across conditions and used three sets of trained prosodic and gestural patterns. In all conditions, the joint perceptual scenes and preceding shared action contexts were identical. In both experiments, infants reacted appropriately to the adults’ intentions by attending to the object mostly in the sharing interest condition, offering the object mostly in the imperative condition, and searching for the referent mostly in the informing condition. Infants’ ability to comprehend pragmatic intentions based on prosody and gesture shape expands infants’ communicative understanding from common activities to novel situations for which shared background knowledge is missing.
  • Estruch, S. B., Graham, S. A., Chinnappa, S. M., Deriziotis, P., & Fisher, S. E. (2016). Functional characterization of rare FOXP2 variants in neurodevelopmental disorder. Journal of Neurodevelopmental Disorders, 8: 44. doi:10.1186/s11689-016-9177-2.
  • Estruch, S. B., Graham, S. A., Deriziotis, P., & Fisher, S. E. (2016). The language-related transcription factor FOXP2 is post-translationally modified with small ubiquitin-like modifiers. Scientific Reports, 6: 20911. doi:10.1038/srep20911.

    Abstract

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

    Additional information

    srep20911-s1.pdf
  • Ho, Y. Y. W., Evans, D. M., Montgomery, G. W., Henders, A. K., Kemp, J. P., Timpson, N. J., St Pourcain, B., Heath, A. C., Madden, P. A. F., Loesch, D. Z., McNevin, D., Daniel, R., Davey-Smith, G., Martin, N. G., & Medland, S. E. (2016). Common genetic variants influence whorls in fingerprint patterns. Journal of Investigative Dermatology, 136(4), 859-862. doi:10.1016/j.jid.2015.10.062.
  • Evans, D. M., Zhu, G., Dy, V., Heath, A. C., Madden, P. A. F., Kemp, J. P., McMahon, G., St Pourcain, B., Timpson, N. J., Golding, J., Lawlor, D. A., Steer, C., Montgomery, G. W., Martin, N. G., Smith, G. D., & Whitfield, J. B. (2013). Genome-wide association study identifies loci affecting blood copper, selenium and zinc. Human Molecular Genetics, 22(19), 3998-4006. doi:10.1093/hmg/ddt239.

    Abstract

    Genetic variation affecting absorption, distribution or excretion of essential trace elements may lead to health effects related to sub-clinical deficiency. We have tested for allelic effects of single-nucleotide polymorphisms (SNPs) on blood copper, selenium and zinc in a genome-wide association study using two adult cohorts from Australia and the UK. Participants were recruited in Australia from twins and their families and in the UK from pregnant women. We measured erythrocyte Cu, Se and Zn (Australian samples) or whole blood Se (UK samples) using inductively coupled plasma mass spectrometry. Genotyping was performed with Illumina chips and > 2.5 m SNPs were imputed from HapMap data. Genome-wide significant associations were found for each element. For Cu, there were two loci on chromosome 1 (most significant SNPs rs1175550, P = 5.03 × 10(-10), and rs2769264, P = 2.63 × 10(-20)); for Se, a locus on chromosome 5 was significant in both cohorts (combined P = 9.40 × 10(-28) at rs921943); and for Zn three loci on chromosomes 8, 15 and X showed significant results (rs1532423, P = 6.40 × 10(-12); rs2120019, P = 1.55 × 10(-18); and rs4826508, P = 1.40 × 10(-12), respectively). The Se locus covers three genes involved in metabolism of sulphur-containing amino acids and potentially of the analogous Se compounds; the chromosome 8 locus for Zn contains multiple genes for the Zn-containing enzyme carbonic anhydrase. Where potentially relevant genes were identified, they relate to metabolism of the element (Se) or to the presence at high concentration of a metal-containing protein (Cu).
  • Evans, D. M., Brion, M. J. A., Paternoster, L., Kemp, J. P., McMahon, G., Munafò, M., Whitfield, J. B., Medland, S. E., Montgomery, G. W., Timpson, N. J., St Pourcain, B., Lawlor, D. A., Martin, N. G., Dehghan, A., Hirschhorn, J., Davey Smith, G., The GIANT consortium, The CRP consortium, & The TAG Consortium (2013). Mining the Human Phenome Using Allelic Scores That Index Biological Intermediates. PLoS Genet, 9(10): e1003919. doi:10.1371/journal.pgen.1003919.

    Abstract

    Author SummaryThe standard approach in genome-wide association studies is to analyse the relationship between genetic variants and disease one marker at a time. Significant associations between markers and disease are then used as evidence to implicate biological intermediates and pathways likely to be involved in disease aetiology. However, single genetic variants typically only explain small amounts of disease risk. Our idea is to construct allelic scores that explain greater proportions of the variance in biological intermediates than single markers, and then use these scores to data mine genome-wide association studies. We show how allelic scores derived from known variants as well as allelic scores derived from hundreds of thousands of genetic markers across the genome explain significant portions of the variance in body mass index, levels of C-reactive protein, and LDLc cholesterol, and many of these scores show expected correlations with disease. Power calculations confirm the feasibility of scaling our strategy to the analysis of tens of thousands of molecular phenotypes in large genome-wide meta-analyses. Our method represents a simple way in which tens of thousands of molecular phenotypes could be screened for potential causal relationships with disease.
  • Everaerd, D., Klumpers, F., Zwiers, M., Guadalupe, T., Franke, B., Van Oostrum, I., Schene, A., Fernandez, G., & Tendolkar, I. (2016). Childhood abuse and deprivation are associated with distinct sex-dependent differences in brain morphology. Neuropsychopharmacology, 41, 1716-1723. doi:10.1038/npp.2015.344.

    Abstract

    Childhood adversity (CA) has been associated with long-term structural brain alterations and an increased risk for psychiatric disorders. Evidence is emerging that subtypes of CA, varying in the dimensions of threat and deprivation, lead to distinct neural and behavioral outcomes. However, these specific associations have yet to be established without potential confounders such as psychopathology. Moreover, differences in neural development and psychopathology necessitate the exploration of sexual dimorphism. Young healthy adult subjects were selected based on history of CA from a large database to assess gray matter (GM) differences associated with specific subtypes of adversity. We compared voxel-based morphometry data of subjects reporting specific childhood exposure to abuse (n = 127) or deprivation (n = 126) and a similar sized group of controls (n = 129) without reported CA. Subjects were matched on age, gender, and educational level. Differences between CA subtypes were found in the fusiform gyrus and middle occipital gyms, where subjects with a history of deprivation showed reduced GM compared with subjects with a history of abuse. An interaction between sex and CA subtype was found. Women showed less GM in the visual posterior precuneal region after both subtypes of CA than controls. Men had less GM in the postcentral gyms after childhood deprivation compared with abuse. Our results suggest that even in a healthy population, CA subtypes are related to specific alterations in brain structure, which are modulated by sex. These findings may help understand neurodevelopmental consequences related to CA
  • Everett, C., Blasi, D. E., & Roberts, S. G. (2016). Language evolution and climate: The case of desiccation and tone. Journal of Language Evolution, 1, 33-46. doi:10.1093/jole/lzv004.

    Abstract

    We make the case that, contra standard assumption in linguistic theory, the sound systems of human languages are adapted to their environment. While not conclusive, this plausible case rests on several points discussed in this work: First, human behavior is generally adaptive and the assumption that this characteristic does not extend to linguistic structure is empirically unsubstantiated. Second, animal communication systems are well known to be adaptive within species across a variety of phyla and taxa. Third, research in laryngology demonstrates clearly that ambient desiccation impacts the performance of the human vocal cords. The latter point motivates a clear, testable hypothesis with respect to the synchronic global distribution of language types. Fourth, this hypothesis is supported in our own previous work, and here we discuss new approaches being developed to further explore the hypothesis. We conclude by suggesting that the time has come to more substantively examine the possibility that linguistic sound systems are adapted to their physical ecology
  • Everett, C., Blasi, D., & Roberts, S. G. (2016). Response: Climate and language: has the discourse shifted? Journal of Language Evolution, 1(1), 83-87. doi:10.1093/jole/lzv013.

    Abstract

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

    Additional information

    AppendixResponseToHammarstrom.pdf
  • Faller, M. (2002). The evidential and validational licensing conditions for the Cusco Quechua enclitic-mi. Belgian Journal of Linguistics, 16, 7-21. doi:10.1075/bjl.16.02fa.
  • Fan, Q., Guo, X., Tideman, J. W. L., Williams, K. M., Yazar, S., Hosseini, S. M., Howe, L. D., St Pourcain, B., Evans, D. M., Timpson, N. J., McMahon, G., Hysi, P. G., Krapohl, E., Wang, Y. X., Jonas, J. B., Baird, P. N., Wang, J. J., Cheng, C. Y., Teo, Y. Y., Wong, T. Y. and 17 moreFan, Q., Guo, X., Tideman, J. W. L., Williams, K. M., Yazar, S., Hosseini, S. M., Howe, L. D., St Pourcain, B., Evans, D. M., Timpson, N. J., McMahon, G., Hysi, P. G., Krapohl, E., Wang, Y. X., Jonas, J. B., Baird, P. N., Wang, J. J., Cheng, C. Y., Teo, Y. Y., Wong, T. Y., Ding, X., Wojciechowski, R., Young, T. L., Parssinen, O., Oexle, K., Pfeiffer, N., Bailey-Wilson, J. E., Paterson, A. D., Klaver, C. C. W., Plomin, R., Hammond, C. J., Mackey, D. A., He, M. G., Saw, S. M., Williams, C., Guggenheim, J. A., & Cream, C. (2016). Childhood gene-environment interactions and age-dependent effects of genetic variants associated with refractive error and myopia: The CREAM Consortium. Scientific Reports, 6: 25853. doi:10.1038/srep25853.

    Abstract

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

    Additional information

    srep25853-s1.pdf
  • Fan, Q., Verhoeven, V. J., Wojciechowski, R., Barathi, V. A., Hysi, P. G., Guggenheim, J. A., Höhn, R., Vitart, V., Khawaja, A. P., Yamashiro, K., Hosseini, S. M., Lehtimäki, T., Lu, Y., Haller, T., Xie, J., Delcourt, C., Pirastu, M., Wedenoja, J., Gharahkhani, P., Venturini, C. and 83 moreFan, Q., Verhoeven, V. J., Wojciechowski, R., Barathi, V. A., Hysi, P. G., Guggenheim, J. A., Höhn, R., Vitart, V., Khawaja, A. P., Yamashiro, K., Hosseini, S. M., Lehtimäki, T., Lu, Y., Haller, T., Xie, J., Delcourt, C., Pirastu, M., Wedenoja, J., Gharahkhani, P., Venturini, C., Miyake, M., Hewitt, A. W., Guo, X., Mazur, J., Huffman, J. E., Williams, K. M., Polasek, O., Campbell, H., Rudan, I., Vatavuk, Z., Wilson, J. F., Joshi, P. K., McMahon, G., St Pourcain, B., Evans, D. M., Simpson, C. L., Schwantes-An, T.-H., Igo, R. P., Mirshahi, A., Cougnard-Gregoire, A., Bellenguez, C., Blettner, M., Raitakari, O., Kähönen, M., Seppälä, I., Zeller, T., Meitinger, T., Ried, J. S., Gieger, C., Portas, L., Van Leeuwen, E. M., Amin, N., Uitterlinden, A. G., Rivadeneira, F., Hofman, A., Vingerling, J. R., Wang, Y. X., Wang, X., Boh, E.-T.-H., Ikram, M. K., Sabanayagam, C., Gupta, P., Tan, V., Zhou, L., Ho, C. E., Lim, W., Beuerman, R. W., Siantar, R., Tai, E.-S., Vithana, E., Mihailov, E., Khor, C.-C., Hayward, C., Luben, R. N., Foster, P. J., Klein, B. E., Klein, R., Wong, H.-S., Mitchell, P., Metspalu, A., Aung, T., Young, T. L., He, M., Pärssinen, O., Van Duijn, C. M., Wang, J. J., Williams, C., Jonas, J. B., Teo, Y.-Y., Mackey, D. A., Oexle, K., Yoshimura, N., Paterson, A. D., Pfeiffer, N., Wong, T.-Y., Baird, P. N., Stambolian, D., Bailey-Wilson, J. E., Cheng, C.-Y., Hammond, C. J., Klaver, C. C., Saw, S.-M., & Consortium for Refractive Error and Myopia (CREAM) (2016). Meta-analysis of gene–environment-wide association scans accounting for education level identifies additional loci for refractive error. Nature Communications, 7: 11008. doi:10.1038/ncomms11008.

    Abstract

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

    Additional information

    Fan_etal_2016sup.pdf
  • Fatemifar, G., Hoggart, C. J., Paternoster, L., Kemp, J. P., Prokopenko, I., Horikoshi, M., Wright, V. J., Tobias, J. H., Richmond, S., Zhurov, A. I., Toma, A. M., Pouta, A., Taanila, A., Sipila, K., Lähdesmäki, R., Pillas, D., Geller, F., Feenstra, B., Melbye, M., Nohr, E. A. and 6 moreFatemifar, G., Hoggart, C. J., Paternoster, L., Kemp, J. P., Prokopenko, I., Horikoshi, M., Wright, V. J., Tobias, J. H., Richmond, S., Zhurov, A. I., Toma, A. M., Pouta, A., Taanila, A., Sipila, K., Lähdesmäki, R., Pillas, D., Geller, F., Feenstra, B., Melbye, M., Nohr, E. A., Ring, S. M., St Pourcain, B., Timpson, N. J., Davey Smith, G., Jarvelin, M.-R., & Evans, D. M. (2013). Genome-wide association study of primary tooth eruption identifies pleiotropic loci associated with height and craniofacial distances. Human Molecular Genetics, 22(18), 3807-3817. doi:10.1093/hmg/ddt231.

    Abstract

    Twin and family studies indicate that the timing of primary tooth eruption is highly heritable, with estimates typically exceeding 80%. To identify variants involved in primary tooth eruption, we performed a population-based genome-wide association study of 'age at first tooth' and 'number of teeth' using 5998 and 6609 individuals, respectively, from the Avon Longitudinal Study of Parents and Children (ALSPAC) and 5403 individuals from the 1966 Northern Finland Birth Cohort (NFBC1966). We tested 2 446 724 SNPs imputed in both studies. Analyses were controlled for the effect of gestational age, sex and age of measurement. Results from the two studies were combined using fixed effects inverse variance meta-analysis. We identified a total of 15 independent loci, with 10 loci reaching genome-wide significance (P < 5 × 10(-8)) for 'age at first tooth' and 11 loci for 'number of teeth'. Together, these associations explain 6.06% of the variation in 'age of first tooth' and 4.76% of the variation in 'number of teeth'. The identified loci included eight previously unidentified loci, some containing genes known to play a role in tooth and other developmental pathways, including an SNP in the protein-coding region of BMP4 (rs17563, P = 9.080 × 10(-17)). Three of these loci, containing the genes HMGA2, AJUBA and ADK, also showed evidence of association with craniofacial distances, particularly those indexing facial width. Our results suggest that the genome-wide association approach is a powerful strategy for detecting variants involved in tooth eruption, and potentially craniofacial growth and more generally organ development.
  • Fedorenko, E., Morgan, A., Murray, E., Cardinaux, A., Mei, C., Tager-Flusberg, H., Fisher, S. E., & Kanwisher, N. (2016). A highly penetrant form of childhood apraxia of speech due to deletion of 16p11.2. European Journal of Human Genetics, 24(2), 302-306. doi:10.1038/ejhg.2015.149.

    Abstract

    Individuals with heterozygous 16p11.2 deletions reportedly suffer from a variety of difficulties with speech and language. Indeed, recent copy-number variant screens of children with childhood apraxia of speech (CAS), a specific and rare motor speech disorder, have identified three unrelated individuals with 16p11.2 deletions. However, the nature and prevalence of speech and language disorders in general, and CAS in particular, is unknown for individuals with 16p11.2 deletions. Here we took a genotype-first approach, conducting detailed and systematic characterization of speech abilities in a group of 11 unrelated children ascertained on the basis of 16p11.2 deletions. To obtain the most precise and replicable phenotyping, we included tasks that are highly diagnostic for CAS, and we tested children under the age of 18 years, an age group where CAS has been best characterized. Two individuals were largely nonverbal, preventing detailed speech analysis, whereas the remaining nine met the standard accepted diagnostic criteria for CAS. These results link 16p11.2 deletions to a highly penetrant form of CAS. Our findings underline the need for further precise characterization of speech and language profiles in larger groups of affected individuals, which will also enhance our understanding of how genetic pathways contribute to human communication disorders.
  • Feinberg, H., Taylor, M. E., Razi, N., McBride, R., Knirel, Y. A., Graham, S. A., Drickamer, K., & Weis, W. I. (2011). Structural basis for langerin recognition of diverse pathogen and mammalian glycans through a single binding site. Journal of Molecular Biology, 405, 1027-1039. doi:10.1016/j.jmb.2010.11.039.

    Abstract

    Langerin mediates the carbohydrate-dependent uptake of pathogens by Langerhans cells in the first step of antigen presentation to the adaptive immune system. Langerin binds to an unusually diverse number of endogenous and pathogenic cell surface carbohydrates, including mannose-containing O-specific polysaccharides derived from bacterial lipopolysaccharides identified here by probing a microarray of bacterial polysaccharides. Crystal structures of the carbohydrate-recognition domain from human langerin bound to a series of oligomannose compounds, the blood group B antigen, and a fragment of β-glucan reveal binding to mannose, fucose, and glucose residues by Ca(2+) coordination of vicinal hydroxyl groups with similar stereochemistry. Oligomannose compounds bind through a single mannose residue, with no other mannose residues contacting the protein directly. There is no evidence for a second Ca(2+)-independent binding site. Likewise, a β-glucan fragment, Glcβ1-3Glcβ1-3Glc, binds to langerin through the interaction of a single glucose residue with the Ca(2+) site. The fucose moiety of the blood group B trisaccharide Galα1-3(Fucα1-2)Gal also binds to the Ca(2+) site, and selective binding to this glycan compared to other fucose-containing oligosaccharides results from additional favorable interactions of the nonreducing terminal galactose, as well as of the fucose residue. Surprisingly, the equatorial 3-OH group and the axial 4-OH group of the galactose residue in 6SO(4)-Galβ1-4GlcNAc also coordinate Ca(2+), a heretofore unobserved mode of galactose binding in a C-type carbohydrate-recognition domain bearing the Glu-Pro-Asn signature motif characteristic of mannose binding sites. Salt bridges between the sulfate group and two lysine residues appear to compensate for the nonoptimal binding of galactose at this site.

    Additional information

    Feinberg_2011_Suppl_Table.pdf
  • Ferreri, L., & Verga, L. (2016). Benefits of music on verbal learning and memory: How and when does it work? Music Perception, 34(2), 167-182. doi:10.1525/mp.2016.34.2.167.

    Abstract

    A long-standing debate in cognitive neurosciences concerns the effect of music on verbal learning and memory. Research in this field has largely provided conflicting results in both clinical as well as non-clinical populations. Although several studies have shown a positive effect of music on the encoding and retrieval of verbal stimuli, music has also been suggested to hinder mnemonic performance by dividing attention. In an attempt to explain this conflict, we review the most relevant literature on the effects of music on verbal learning and memory. Furthermore, we specify several mechanisms through which music may modulate these cognitive functions. We suggest that the extent to which music boosts these cognitive functions relies on experimental factors, such as the relative complexity of musical and verbal stimuli employed. These factors should be carefully considered in further studies, in order to reliably establish how and when music boosts verbal memory and learning. The answers to these questions are not only crucial for our knowledge of how music influences cognitive and brain functions, but may have important clinical implications. Considering the increasing number of approaches using music as a therapeutic tool, the importance of understanding exactly how music works can no longer be underestimated.
  • Filippi, P. (2013). Connessioni regolate: la chiave ontologica alle specie-specificità? Epekeina, 2(1), 203-223. doi:10.7408/epkn.epkn.v2i1.41.

    Abstract

    This article focuses on “perceptual syntax”, the faculty to process patterns in sensory stimuli. Specifically, this study addresses the ability to perceptually connect elements that are: (1) of the same sensory modality; (2) spatially and temporally non-adjacent; or (3) within multiple sensorial domains. The underlying hypothesis is that in each animal species, this core cognitive faculty enables the perception of the environment-world (Umwelt) and consequently the possibility to survive within it. Importantly, it is suggested that in doing so, perceptual syntax determines (and guides) each species’ ontological access to the world. In support of this hypothesis, research on perceptual syntax in nonverbal individuals (preverbal infants and nonhuman animals) and humans is reviewed. This comparative approach results in theoretical remarks on human cognition and ontology, pointing to the conclusion that the ability to map cross-modal connections through verbal language is what makes humans’ form of life species-typical.
  • Filippi, P. (2016). Emotional and Interactional Prosody across Animal Communication Systems: A Comparative Approach to the Emergence of Language. Frontiers in Psychology, 7: 1393. doi:10.3389/fpsyg.2016.01393.

    Abstract

    Across a wide range of animal taxa, prosodic modulation of the voice can express emotional information and is used to coordinate vocal interactions between multiple individuals. Within a comparative approach to animal communication systems, I hypothesize that the ability for emotional and interactional prosody (EIP) paved the way for the evolution of linguistic prosody – and perhaps also of music, continuing to play a vital role in the acquisition of language. In support of this hypothesis, I review three research fields: (i) empirical studies on the adaptive value of EIP in non-human primates, mammals, songbirds, anurans, and insects; (ii) the beneficial effects of EIP in scaffolding language learning and social development in human infants; (iii) the cognitive relationship between linguistic prosody and the ability for music, which has often been identified as the evolutionary precursor of language.
  • Filippi, P., Congdon, J. V., Hoang, J., Bowling, D. L., Reber, S. A., Pasukonis, A., Hoeschele, M., Ocklenburg, S., De Boer, B., Sturdy, C. B., Newen, A., & Güntürkün, O. (2017). Humans recognize emotional arousal in vocalizations across all classes of terrestrial vertebrates: Evidence for acoustic universals. Proceedings of the Royal Society B: Biological Sciences, 284: 20170990. doi:10.1098/rspb.2017.0990.

    Abstract

    Writing over a century ago, Darwin hypothesized that vocal expression of emotion dates back to our earliest terrestrial ancestors. If this hypothesis is true, we should expect to find cross-species acoustic universals in emotional vocalizations. Studies suggest that acoustic attributes of aroused vocalizations are shared across many mammalian species, and that humans can use these attributes to infer emotional content. But do these acoustic attributes extend to non-mammalian vertebrates? In this study, we asked human participants to judge the emotional content of vocalizations of nine vertebrate species representing three different biological classes—Amphibia, Reptilia (non-aves and aves) and Mammalia. We found that humans are able to identify higher levels of arousal in vocalizations across all species. This result was consistent across different language groups (English, German and Mandarin native speakers), suggesting that this ability is biologically rooted in humans. Our findings indicate that humans use multiple acoustic parameters to infer relative arousal in vocalizations for each species, but mainly rely on fundamental frequency and spectral centre of gravity to identify higher arousal vocalizations across species. These results suggest that fundamental mechanisms of vocal emotional expression are shared among vertebrates and could represent a homologous signalling system.
  • Filippi, P., Gogoleva, S. S., Volodina, E. V., Volodin, I. A., & De Boer, B. (2017). Humans identify negative (but not positive) arousal in silver fox vocalizations: Implications for the adaptive value of interspecific eavesdropping. Current Zoology, 63(4), 445-456. doi:10.1093/cz/zox035.

    Abstract

    The ability to identify emotional arousal in heterospecific vocalizations may facilitate behaviors that increase survival opportunities. Crucially, this ability may orient inter-species interactions, particularly between humans and other species. Research shows that humans identify emotional arousal in vocalizations across multiple species, such as cats, dogs, and piglets. However, no previous study has addressed humans' ability to identify emotional arousal in silver foxes. Here, we adopted low-and high-arousal calls emitted by three strains of silver fox-Tame, Aggressive, and Unselected-in response to human approach. Tame and Aggressive foxes are genetically selected for friendly and attacking behaviors toward humans, respectively. Unselected foxes show aggressive and fearful behaviors toward humans. These three strains show similar levels of emotional arousal, but different levels of emotional valence in relation to humans. This emotional information is reflected in the acoustic features of the calls. Our data suggest that humans can identify high-arousal calls of Aggressive and Unselected foxes, but not of Tame foxes. Further analyses revealed that, although within each strain different acoustic parameters affect human accuracy in identifying high-arousal calls, spectral center of gravity, harmonic-to-noise ratio, and F0 best predict humans' ability to discriminate high-arousal calls across all strains. Furthermore, we identified in spectral center of gravity and F0 the best predictors for humans' absolute ratings of arousal in each call. Implications for research on the adaptive value of inter-specific eavesdropping are discussed.

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  • Filippi, P., Ocklenburg, S., Bowling, D. L., Heege, L., Güntürkün, O., Newen, A., & de Boer, B. (2017). More than words (and faces): evidence for a Stroop effect of prosody in emotion word processing. Cognition & Emotion, 31(5), 879-891. doi:10.1080/02699931.2016.1177489.

    Abstract

    Humans typically combine linguistic and nonlinguistic information to comprehend emotions. We adopted an emotion identification Stroop task to investigate how different channels interact in emotion communication. In experiment 1, synonyms of “happy” and “sad” were spoken with happy and sad prosody. Participants had more difficulty ignoring prosody than ignoring verbal content. In experiment 2, synonyms of “happy” and “sad” were spoken with happy and sad prosody, while happy or sad faces were displayed. Accuracy was lower when two channels expressed an emotion that was incongruent with the channel participants had to focus on, compared with the cross-channel congruence condition. When participants were required to focus on verbal content, accuracy was significantly lower also when prosody was incongruent with verbal content and face. This suggests that prosody biases emotional verbal content processing, even when conflicting with verbal content and face simultaneously. Implications for multimodal communication and language evolution studies are discussed.
  • Filippi, P. (2013). Specifically Human: Going Beyond Perceptual Syntax. Biosemiotics, 7(1), 111-123. doi:10.1007/s12304-013-9187-3.

    Abstract

    The aim of this paper is to help refine the definition of humans as “linguistic animals” in light of a comparative approach on nonhuman animals’ cognitive systems. As Uexküll & Kriszat (1934/1992) have theorized, the epistemic access to each species-specific environment (Umwelt) is driven by different biocognitive processes. Within this conceptual framework, I identify the salient cognitive process that distinguishes each species typical perception of the world as the faculty of language meant in the following operational definition: the ability to connect different elements according to structural rules. In order to draw some conclusions about humans’ specific faculty of language, I review different empirical studies on nonhuman animals’ ability to recognize formal patterns of tokens. I suggest that what differentiates human language from other animals’ cognitive systems is the ability to categorize the units of a pattern, going beyond its perceptual aspects. In fact, humans are the only species known to be able to combine semantic units within a network of combinatorial logical relationships (Deacon 1997) that can be linked to the state of affairs in the external world (Wittgenstein 1922). I assume that this ability is the core cognitive process underlying a) the capacity to speak (or to reason) in verbal propositions and b) the general human faculty of language expressed, for instance, in the ability to draw visual conceptual maps or to compute mathematical expressions. In light of these considerations, I conclude providing some research questions that could lead to a more detailed comparative exploration of the faculty of language.
  • Filippi, P., Jadoul, Y., Ravignani, A., Thompson, B., & de Boer, B. (2016). Seeking Temporal Predictability in Speech: Comparing Statistical Approaches on 18 World Languages. Frontiers in Human Neuroscience, 10: 586. doi:10.3389/fnhum.2016.00586.

    Abstract

    Temporal regularities in speech, such as interdependencies in the timing of speech events, are thought to scaffold early acquisition of the building blocks in speech. By providing on-line clues to the location and duration of upcoming syllables, temporal structure may aid segmentation and clustering of continuous speech into separable units. This hypothesis tacitly assumes that learners exploit predictability in the temporal structure of speech. Existing measures of speech timing tend to focus on first-order regularities among adjacent units, and are overly sensitive to idiosyncrasies in the data they describe. Here, we compare several statistical methods on a sample of 18 languages, testing whether syllable occurrence is predictable over time. Rather than looking for differences between languages, we aim to find across languages (using clearly defined acoustic, rather than orthographic, measures), temporal predictability in the speech signal which could be exploited by a language learner. First, we analyse distributional regularities using two novel techniques: a Bayesian ideal learner analysis, and a simple distributional measure. Second, we model higher-order temporal structure—regularities arising in an ordered series of syllable timings—testing the hypothesis that non-adjacent temporal structures may explain the gap between subjectively-perceived temporal regularities, and the absence of universally-accepted lower-order objective measures. Together, our analyses provide limited evidence for predictability at different time scales, though higher-order predictability is difficult to reliably infer. We conclude that temporal predictability in speech may well arise from a combination of individually weak perceptual cues at multiple structural levels, but is challenging to pinpoint.
  • Filippi, P., Laaha, S., & Fitch, W. T. (2017). Utterance-final position and pitch marking aid word learning in school-age children. Royal Society Open Science, 4: 161035. doi:10.1098/rsos.161035.

    Abstract

    We investigated the effects of word order and prosody on word learning in school-age children. Third graders viewed photographs belonging to one of three semantic categories while hearing four-word nonsense utterances containing a target word. In the control condition, all words had the same pitch and, across trials, the position of the target word was varied systematically within each utterance. The only cue to word–meaning mapping was the co-occurrence of target words and referents. This cue was present in all conditions. In the Utterance-final condition, the target word always occurred in utterance-final position, and at the same fundamental frequency as all the other words of the utterance. In the Pitch peak condition, the position of the target word was varied systematically within each utterance across trials, and produced with pitch contrasts typical of infant-directed speech (IDS). In the Pitch peak + Utterance-final condition, the target word always occurred in utterance-final position, and was marked with a pitch contrast typical of IDS. Word learning occurred in all conditions except the control condition. Moreover, learning performance was significantly higher than that observed with simple co-occurrence (control condition) only for the Pitch peak + Utterance-final condition. We conclude that, for school-age children, the combination of words' utterance-final alignment and pitch enhancement boosts word learning.
  • Fisher, S. E., Stein, J. F., & Monaco, A. P. (1999). A genome-wide search strategy for identifying quantitative trait loci involved in reading and spelling disability (developmental dyslexia). European Child & Adolescent Psychiatry, 8(suppl. 3), S47-S51. doi:10.1007/PL00010694.

    Abstract

    Family and twin studies of developmental dyslexia have consistently shown that there is a significant heritable component for this disorder. However, any genetic basis for the trait is likely to be complex, involving reduced penetrance, phenocopy, heterogeneity and oligogenic inheritance. This complexity results in reduced power for traditional parametric linkage analysis, where specification of the correct genetic model is important. One strategy is to focus on large multigenerational pedigrees with severe phenotypes and/or apparent simple Mendelian inheritance, as has been successfully demonstrated for speech and language impairment. This approach is limited by the scarcity of such families. An alternative which has recently become feasible due to the development of high-throughput genotyping techniques is the analysis of large numbers of sib-pairs using allele-sharing methodology. This paper outlines our strategy for conducting a systematic genome-wide search for genes involved in dyslexia in a large number of affected sib-pair familites from the UK. We use a series of psychometric tests to obtain different quantitative measures of reading deficit, which should correlate with different components of the dyslexia phenotype, such as phonological awareness and orthographic coding ability. This enable us to use QTL (quantitative trait locus) mapping as a powerful tool for localising genes which may contribute to reading and spelling disability.
  • Fisher, S. E., Francks, C., McCracken, J. T., McGough, J. J., Marlow, A. J., MacPhie, I. L., Newbury, D. F., Crawford, L. R., Palmer, C. G. S., Woodward, J. A., Del’Homme, M., Cantwell, D. P., Nelson, S. F., Monaco, A. P., & Smalley, S. L. (2002). A genomewide scan for loci involved in Attention-Deficit/Hyperactivity Disorder. American Journal of Human Genetics, 70(5), 1183-1196. doi:10.1086/340112.

    Abstract

    Attention deficit/hyperactivity disorder (ADHD) is a common heritable disorder with a childhood onset. Molecular genetic studies of ADHD have previously focused on examining the roles of specific candidate genes, primarily those involved in dopaminergic pathways. We have performed the first systematic genomewide linkage scan for loci influencing ADHD in 126 affected sib pairs, using a ∼10-cM grid of microsatellite markers. Allele-sharing linkage methods enabled us to exclude any loci with a λs of ⩾3 from 96% of the genome and those with a λs of ⩾2.5 from 91%, indicating that there is unlikely to be a major gene involved in ADHD susceptibility in our sample. Under a strict diagnostic scheme we could exclude all screened regions of the X chromosome for a locus-specific λs of ⩾2 in brother-brother pairs, demonstrating that the excess of affected males with ADHD is probably not attributable to a major X-linked effect. Qualitative trait maximum LOD score analyses pointed to a number of chromosomal sites that may contain genetic risk factors of moderate effect. None exceeded genomewide significance thresholds, but LOD scores were >1.5 for regions on 5p12, 10q26, 12q23, and 16p13. Quantitative-trait analysis of ADHD symptom counts implicated a region on 12p13 (maximum LOD 2.6) that also yielded a LOD >1 when qualitative methods were used. A survey of regions containing 36 genes that have been proposed as candidates for ADHD indicated that 29 of these genes, including DRD4 and DAT1, could be excluded for a λs of 2. Only three of the candidates—DRD5, 5HTT, and CALCYON—coincided with sites of positive linkage identified by our screen. Two of the regions highlighted in the present study, 2q24 and 16p13, coincided with the top linkage peaks reported by a recent genome-scan study of autistic sib pairs.
  • Fisher, S. E., Marlow, A. J., Lamb, J., Maestrini, E., Williams, D. F., Richardson, A. J., Weeks, D. E., Stein, J. F., & Monaco, A. P. (1999). A quantitative-trait locus on chromosome 6p influences different aspects of developmental dyslexia. American Journal of Human Genetics, 64(1), 146-156. doi:10.1086/302190.

    Abstract

    Recent application of nonparametric-linkage analysis to reading disability has implicated a putative quantitative-trait locus (QTL) on the short arm of chromosome 6. In the present study, we use QTL methods to evaluate linkage to the 6p25-21.3 region in a sample of 181 sib pairs from 82 nuclear families that were selected on the basis of a dyslexic proband. We have assessed linkage directly for several quantitative measures that should correlate with different components of the phenotype, rather than using a single composite measure or employing categorical definitions of subtypes. Our measures include the traditional IQ/reading discrepancy score, as well as tests of word recognition, irregular-word reading, and nonword reading. Pointwise analysis by means of sib-pair trait differences suggests the presence, in 6p21.3, of a QTL influencing multiple components of dyslexia, in particular the reading of irregular words (P=.0016) and nonwords (P=.0024). A complementary statistical approach involving estimation of variance components supports these findings (irregular words, P=.007; nonwords, P=.0004). Multipoint analyses place the QTL within the D6S422-D6S291 interval, with a peak around markers D6S276 and D6S105 consistently identified by approaches based on trait differences (irregular words, P=.00035; nonwords, P=.0035) and variance components (irregular words, P=.007; nonwords, P=.0038). Our findings indicate that the QTL affects both phonological and orthographic skills and is not specific to phoneme awareness, as has been previously suggested. Further studies will be necessary to obtain a more precise localization of this QTL, which may lead to the isolation of one of the genes involved in developmental dyslexia.
  • Fisher, S. E., & Ridley, M. (2013). Culture, genes, and the human revolution. Science, 340(6135), 929-930. doi:10.1126/science.1236171.

    Abstract

    State-of-the-art DNA sequencing is providing ever more detailed insights into the genomes of humans, extant apes, and even extinct hominins (1–3), offering unprecedented opportunities to uncover the molecular variants that make us human. A common assumption is that the emergence of behaviorally modern humans after 200,000 years ago required—and followed—a specific biological change triggered by one or more genetic mutations. For example, Klein has argued that the dawn of human culture stemmed from a single genetic change that “fostered the uniquely modern ability to adapt to a remarkable range of natural and social circumstance” (4). But are evolutionary changes in our genome a cause or a consequence of cultural innovation (see the figure)?

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  • Fisher, S. E., & DeFries, J. C. (2002). Developmental dyslexia: Genetic dissection of a complex cognitive trait. Nature Reviews Neuroscience, 3, 767-780. doi:10.1038/nrn936.

    Abstract

    Developmental dyslexia, a specific impairment of reading ability despite adequate intelligence and educational opportunity, is one of the most frequent childhood disorders. Since the first documented cases at the beginning of the last century, it has become increasingly apparent that the reading problems of people with dyslexia form part of a heritable neurobiological syndrome. As for most cognitive and behavioural traits, phenotypic definition is fraught with difficulties and the genetic basis is complex, making the isolation of genetic risk factors a formidable challenge. Against such a background, it is notable that several recent studies have reported the localization of genes that influence dyslexia and other language-related traits. These investigations exploit novel research approaches that are relevant to many areas of human neurogenetics.
  • Fisher, S. E., Francks, C., Marlow, A. J., MacPhie, I. L., Newbury, D. F., Cardon, L. R., Ishikawa-Brush, Y., Richardson, A. J., Talcott, J. B., Gayán, J., Olson, R. K., Pennington, B. F., Smith, S. D., DeFries, J. C., Stein, J. F., & Monaco, A. P. (2002). Independent genome-wide scans identify a chromosome 18 quantitative-trait locus influencing dyslexia. Nature Genetics, 30(1), 86-91. doi:10.1038/ng792.

    Abstract

    Developmental dyslexia is defined as a specific and significant impairment in reading ability that cannot be explained by deficits in intelligence, learning opportunity, motivation or sensory acuity. It is one of the most frequently diagnosed disorders in childhood, representing a major educational and social problem. It is well established that dyslexia is a significantly heritable trait with a neurobiological basis. The etiological mechanisms remain elusive, however, despite being the focus of intensive multidisciplinary research. All attempts to map quantitative-trait loci (QTLs) influencing dyslexia susceptibility have targeted specific chromosomal regions, so that inferences regarding genetic etiology have been made on the basis of very limited information. Here we present the first two complete QTL-based genome-wide scans for this trait, in large samples of families from the United Kingdom and United States. Using single-point analysis, linkage to marker D18S53 was independently identified as being one of the most significant results of the genome in each scan (P< or =0.0004 for single word-reading ability in each family sample). Multipoint analysis gave increased evidence of 18p11.2 linkage for single-word reading, yielding top empirical P values of 0.00001 (UK) and 0.0004 (US). Measures related to phonological and orthographic processing also showed linkage at this locus. We replicated linkage to 18p11.2 in a third independent sample of families (from the UK), in which the strongest evidence came from a phoneme-awareness measure (most significant P value=0.00004). A combined analysis of all UK families confirmed that this newly discovered 18p QTL is probably a general risk factor for dyslexia, influencing several reading-related processes. This is the first report of QTL-based genome-wide scanning for a human cognitive trait.
  • Fisher, S. E. (2017). Evolution of language: Lessons from the genome. Psychonomic Bulletin & Review, 24(1), 34-40. doi: 10.3758/s13423-016-1112-8.

    Abstract

    The post-genomic era is an exciting time for researchers interested in the biology of speech and language. Substantive advances in molecular methodologies have opened up entire vistas of investigation that were not previously possible, or in some cases even imagined. Speculations concerning the origins of human cognitive traits are being transformed into empirically addressable questions, generating specific hypotheses that can be explicitly tested using data collected from both the natural world and experimental settings. In this article, I discuss a number of promising lines of research in this area. For example, the field has begun to identify genes implicated in speech and language skills, including not just disorders but also the normal range of abilities. Such genes provide powerful entry points for gaining insights into neural bases and evolutionary origins, using sophisticated experimental tools from molecular neuroscience and developmental neurobiology. At the same time, sequencing of ancient hominin genomes is giving us an unprecedented view of the molecular genetic changes that have occurred during the evolution of our species. Synthesis of data from these complementary sources offers an opportunity to robustly evaluate alternative accounts of language evolution. Of course, this endeavour remains challenging on many fronts, as I also highlight in the article. Nonetheless, such an integrated approach holds great potential for untangling the complexities of the capacities that make us human.
  • Fisher, V. J. (2017). Unfurling the wings of flight: Clarifying ‘the what’ and ‘the why’ of mental imagery use in dance. Research in Dance Education, 18(3), 252-272. doi:10.1080/14647893.2017.1369508.

    Abstract

    This article provides clarification regarding ‘the what’ and ‘the why’ of mental imagery use in dance. It proposes that mental images are invoked across sensory modalities and often combine internal and external perspectives. The content of images ranges from ‘direct’ body oriented simulations along a continuum employing analogous mapping through ‘semi-direct’ literal similarities to abstract metaphors. The reasons for employing imagery are diverse and often overlapping, affecting physical, affective (psychological) and cognitive domains. This paper argues that when dance uses imagery, it is mapping aspects of the world to the body via analogy. Such mapping informs and changes our understanding of both our bodies and the world. In this way, mental imagery use in dance is fundamentally a process of embodied cognition
  • Fitneva, S. A., Lam, N. H. L., & Dunfield, K. A. (2013). The development of children's information gathering: To look or to ask? Developmental Psychology, 49(3), 533-542. doi:10.1037/a0031326.

    Abstract

    The testimony of others and direct experience play a major role in the development of children's knowledge. Children actively use questions to seek others' testimony and explore the environment. It is unclear though whether children distinguish when it is better to ask from when it is better to try to find an answer by oneself. In 2 experiments, we examined the ability of 4- and 6-year-olds to select between looking and asking to determine visible and invisible properties of entities (e.g., hair color vs. knowledge of French). All children chose to look more often for visible than invisible properties. However, only 6-year-olds chose above chance to look for visible properties and to ask for invisible properties. Four-year-olds showed a preference for looking in one experiment and asking in the other. The results suggest substantial development in the efficacy of children's learning in early childhood.
  • Fitz, H., & Chang, F. (2017). Meaningful questions: The acquisition of auxiliary inversion in a connectionist model of sentence production. Cognition, 166, 225-250. doi:10.1016/j.cognition.2017.05.008.

    Abstract

    Nativist theories have argued that language involves syntactic principles which are unlearnable from the input children receive. A paradigm case of these innate principles is the structure dependence of auxiliary inversion in complex polar questions (Chomsky, 1968, 1975, 1980). Computational approaches have focused on the properties of the input in explaining how children acquire these questions. In contrast, we argue that messages are structured in a way that supports structure dependence in syntax. We demonstrate this approach within a connectionist model of sentence production (Chang, 2009) which learned to generate a range of complex polar questions from a structured message without positive exemplars in the input. The model also generated different types of error in development that were similar in magnitude to those in children (e.g., auxiliary doubling, Ambridge, Rowland, & Pine, 2008; Crain & Nakayama, 1987). Through model comparisons we trace how meaning constraints and linguistic experience interact during the acquisition of auxiliary inversion. Our results suggest that auxiliary inversion rules in English can be acquired without innate syntactic principles, as long as it is assumed that speakers who ask complex questions express messages that are structured into multiple propositions
  • FitzPatrick, I., & Indefrey, P. (2016). Accessing Conceptual Representations for Speaking [Editorial]. Frontiers in Psychology, 7: 1216. doi:10.3389/fpsyg.2016.01216.

    Abstract

    Systematic investigations into the role of semantics in the speech production process have remained elusive. This special issue aims at moving forward toward a more detailed account of how precisely conceptual information is used to access the lexicon in speaking and what corresponding format of conceptual representations needs to be assumed. The studies presented in this volume investigated effects of conceptual processing on different processing stages of language production, including sentence formulation, lemma selection, and word form access.
  • Flecken, M. (2011). Assessing bilingual attainment: macrostructural planning in narratives. International Journal of Bilingualism, 15(2), 164-186. doi:10.1177/1367006910381187.

    Abstract

    The present study addresses questions concerning bilinguals’ attainment in the two languages by investigating the extent to which early bilinguals manage to apply the information structure required in each language when producing a complex text. In re-narrating the content of a film, speakers have to break down the perceived series of dynamic situations and structure relevant information into units that are suited for linguistic expression. The analysis builds on typological studies of Germanic and Romance languages which investigate the role of grammaticized concepts in determining core features in information structure. It takes a global perspective in that it focuses on factors that determine information selection and information structure that hold in macrostructural terms for the text as a whole (factors driving information selection, the temporal frame used to locate events on the time line, and the means used in reference management). A first comparison focuses on Dutch and German monolingual native speakers and shows that despite overall typological similarities, there are subtle though systematic differences between the two languages in the aforementioned areas of information structure. The analyses of the bilinguals focus on their narratives in both languages, and compares the patterns found to those found in the monolingual narratives. Findings show that the method used provides insights into the individual bilingual’s attainment in the two languages and identifies either balanced levels of attainment, patterns showing higher degrees of conformity with one of the languages, as well as bilingual-specific patterns of performance.
  • Flecken, M. (2011). Event conceptualization by early Dutch-German bilinguals: Insights from linguistic and eye-tracking data. Bilingualism: Language and Cognition, 14(1), 61-77. doi:10.1017/S1366728910000027.

    Abstract

    This experimental study investigates event construal by early Dutch–German bilinguals, as reflected in their oral depiction of everyday events shown in video clips. The starting point is the finding that the expression of an aspectual perspective (progressive aspect), and its consequences for event construal, is dependent on the extent to which means are grammaticalized, as in English (e.g., progressive aspect) or not, as in German (von Stutterheim & Carroll, 2006). The present study shows that although speakers of Dutch and German have comparable means to mark this aspectual concept, at a first glance at least, they differ markedly both in the contexts as well as in the extent to which this aspectual perspective is selected, being highly frequent in specific contexts in Dutch, but not in German. The present experimental study investigates factors that lead to the use of progressive aspect by early bilinguals, using video clips (with different types of events varied along specific dimensions on a systematic basis). The study includes recordings of eye movements, and examines how far an aspectual perspective drives allocation of attention during information intake while viewing the stimulus material, both for and while speaking. Although the bilinguals have acquired the means to express progressive aspect in Dutch, their use shows a pattern that differs from monolingual Dutch speakers. Interestingly, these differences are reflected in different patterns in the direction of attention (eye movements) when verbalizing information on events.
  • Flecken, M., von Stutterheim, C., & Carroll, M. (2013). Principles of information organization in L2 use: Complex patterns of conceptual transfer. International review of applied linguistics, 51(2), 229-242. doi:10.1515/iral-2013-0010.
  • Flecken, M. (2011). What native speaker judgments tell us about the grammaticalization of a progressive aspectual marker in Dutch. Linguistics, 49(3), 479-524. doi:10.1515/LING.2011.015.

    Abstract

    This paper focuses on native speaker judgments of a construction in Dutch that functions as a progressive aspectual marker (aan het X zijn, referred to as aan het-construction) and represents an event as in progression at the time of speech. The method was chosen in order to investigate how native speakers assess the scope and conditions of use of a construction which is in the process of grammaticalization. It allows for the inclusion of a large group of participants of different age groups and an investigation of potential age-related differences. The study systematically covers a range of temporal variables that were shown to be relevant in elicitation and corpus-based studies on the grammaticalization of progressive aspect constructions. The results provide insights into the selectional preferences and constraints of the aan het-construction in contemporary Dutch, as judged by native speakers, and the extent to which they correlate with production tasks.
  • Floyd, S. (2016). [Review of the book Fluent Selves: Autobiography, Person, and History in Lowland South America ed. by Suzanne Oakdale and Magnus Course]. Journal of Linguistic Anthropology, 26(1), 110-111. doi:10.1111/jola.12112.
  • Floyd, S. (2013). [Review of the book Lessons from a Quechua strongwoman: ideophony, dialogue and perspective. by Janis Nuckolls. 2010]. Journal of Linguistic Anthropology, 22, 256-258. doi:10.1111/j.1548-1395.2012.01166.x.
  • Floyd, S. (2011). [Review of the book Racism and discourse in Latin America ed. by Teun A. van Dijk]. Language in Society, 40, 670-671. doi:10.1017/S0047404511000807.
  • Floyd, S. (2016). Modally hybrid grammar? Celestial pointing for time-of-day reference in Nheengatú. Language, 92(1), 31-64. doi:10.1353/lan.2016.0013.

    Abstract

    From the study of sign languages we know that the visual modality robustly supports the encoding of conventionalized linguistic elements, yet while the same possibility exists for the visual bodily behavior of speakers of spoken languages, such practices are often referred to as ‘gestural’ and are not usually described in linguistic terms. This article describes a practice of speakers of the Brazilian indigenous language Nheengatú of pointing to positions along the east-west axis of the sun’s arc for time-of-day reference, and illustrates how it satisfies any of the common criteria for linguistic elements, as a system of standardized and productive form-meaning pairings whose contributions to propositional meaning remain stable across contexts. First, examples from a video corpus of natural speech demonstrate these conventionalized properties of Nheengatú time reference across multiple speakers. Second, a series of video-based elicitation stimuli test several dimensions of its conventionalization for nine participants. The results illustrate why modality is not an a priori reason that linguistic properties cannot develop in the visual practices that accompany spoken language. The conclusion discusses different possible morphosyntactic and pragmatic analyses for such conventionalized visual elements and asks whether they might be more crosslinguistically common than we presently know.
  • Floyd, S. (2011). Re-discovering the Quechua adjective. Linguistic Typology, 15, 25-63. doi:10.1515/LITY.2011.003.

    Abstract

    This article describes the adjective class in Quechua, countering many previous accounts of the language as a linguistic type with no adjective/noun distinction. It applies a set of common crosslinguistic criteria for distinguishing adjectives to data from several dialects of Ecuadorian Highland Quechua (EHQ), analyzing examples from a natural speech audio/video corpus, speaker intuitions of grammaticality, and controlled elicitation exercises. It is concluded that by virtually any standard Quechua shows clear evidence for a distinct class of attributive noun modifiers, and that in the future Quechua should not be considered a “flexible” noun/adjective language for the purposes of crosslinguistic comparison.
  • Floyd, S., Manrique, E., Rossi, G., & Torreira, F. (2016). Timing of visual bodily behavior in repair sequences: Evidence from three languages. Discourse Processes, 53(3), 175-204. doi:10.1080/0163853X.2014.992680.

    Abstract

    This article expands the study of other-initiated repair in conversation—when one party
    signals a problemwith producing or perceiving another’s turn at talk—into the domain
    of visual bodily behavior. It presents one primary cross-linguistic finding about the
    timing of visual bodily behavior in repair sequences: if the party who initiates repair
    accompanies their turn with a “hold”—when relatively dynamic movements are
    temporarily andmeaningfully held static—this positionwill not be disengaged until the
    problem is resolved and the sequence closed. We base this finding on qualitative and
    quantitative analysis of corpora of conversational interaction from three unrelated languages representing two different modalities: Northern Italian, the Cha’palaa language of Ecuador, and Argentine Sign Language. The cross-linguistic similarities
    uncovered by this comparison suggest that visual bodily practices have been
    semiotized for similar interactive functions across different languages and modalities
    due to common pressures in face-to-face interaction.
  • Folia, V., Forkstam, C., Ingvar, M., Hagoort, P., & Petersson, K. M. (2011). Implicit artificial syntax processing: Genes, preference, and bounded recursion. Biolinguistics, 5(1/2), 105-132.

    Abstract

    The first objective of this study was to compare the brain network engaged by preference classification and the standard grammaticality classification after implicit artificial syntax acquisition by re-analyzing previously reported event-related fMRI data. The results show that preference and grammaticality classification engage virtually identical brain networks, including Broca’s region, consistent with previous behavioral findings. Moreover, the results showed that the effects related to artificial syntax in Broca’s region were essentially the same when masked with variability related to natural syntax processing in the same participants. The second objective was to explore CNTNAP2-related effects in implicit artificial syntax learning by analyzing behavioral and event-related fMRI data from a subsample. The CNTNAP2 gene has been linked to specific language impairment and is controlled by the FOXP2 transcription factor. CNTNAP2 is expressed in language related brain networks in the developing human brain and the FOXP2–CNTNAP2 pathway provides a mechanistic link between clinically distinct syndromes involving disrupted language. Finally, we discuss the implication of taking natural language to be a neurobiological system in terms of bounded recursion and suggest that the left inferior frontal region is a generic on-line sequence processor that unifies information from various sources in an incremental and recursive manner.
  • Forkel, S. J., Dell’Acqua, F., Kalra, L., Williams, S. C., & Catani, M. (2011). Lateralisation of the Arcuate Fasciculus Predicts Aphasia Recovery at 6 Months. Procedia - Social and Behavioral Sciences, 23, 164-166. doi:10.1016/j.sbspro.2011.09.221.
  • Francisco, A. A., Groen, M. A., Jesse, A., & McQueen, J. M. (2017). Beyond the usual cognitive suspects: The importance of speechreading and audiovisual temporal sensitivity in reading ability. Learning and Individual Differences, 54, 60-72. doi:10.1016/j.lindif.2017.01.003.

    Abstract

    The aim of this study was to clarify whether audiovisual processing accounted for variance in reading and reading-related abilities, beyond the effect of a set of measures typically associated with individual differences in both reading and audiovisual processing. Testing adults with and without a diagnosis of dyslexia, we showed that—across all participants, and after accounting for variance in cognitive abilities—audiovisual temporal sensitivity contributed uniquely to variance in reading errors. This is consistent with previous studies demonstrating an audiovisual deficit in dyslexia. Additionally, we showed that speechreading (identification of speech based on visual cues from the talking face alone) was a unique contributor to variance in phonological awareness in dyslexic readers only: those who scored higher on speechreading, scored lower on phonological awareness. This suggests a greater reliance on visual speech as a compensatory mechanism when processing auditory speech is problematic. A secondary aim of this study was to better understand the nature of dyslexia. The finding that a sub-group of dyslexic readers scored low on phonological awareness and high on speechreading is consistent with a hybrid perspective of dyslexia: There are multiple possible pathways to reading impairment, which may translate into multiple profiles of dyslexia.
  • Francisco, A. A., Jesse, A., Groen, M. A., & McQueen, J. M. (2017). A general audiovisual temporal processing deficit in adult readers with dyslexia. Journal of Speech, Language, and Hearing Research, 60, 144-158. doi:10.1044/2016_JSLHR-H-15-0375.

    Abstract

    Purpose: Because reading is an audiovisual process, reading impairment may reflect an audiovisual processing deficit. The aim of the present study was to test the existence and scope of such a deficit in adult readers with dyslexia. Method: We tested 39 typical readers and 51 adult readers with dyslexia on their sensitivity to the simultaneity of audiovisual speech and nonspeech stimuli, their time window of audiovisual integration for speech (using incongruent /aCa/ syllables), and their audiovisual perception of phonetic categories. Results: Adult readers with dyslexia showed less sensitivity to audiovisual simultaneity than typical readers for both speech and nonspeech events. We found no differences between readers with dyslexia and typical readers in the temporal window of integration for audiovisual speech or in the audiovisual perception of phonetic categories. Conclusions: The results suggest an audiovisual temporal deficit in dyslexia that is not specific to speech-related events. But the differences found for audiovisual temporal sensitivity did not translate into a deficit in audiovisual speech perception. Hence, there seems to be a hiatus between simultaneity judgment and perception, suggesting a multisensory system that uses different mechanisms across tasks. Alternatively, it is possible that the audiovisual deficit in dyslexia is only observable when explicit judgments about audiovisual simultaneity are required
  • Francks, C., Fisher, S. E., MacPhie, I. L., Richardson, A. J., Marlow, A. J., Stein, J. F., & Monaco, A. P. (2002). A genomewide linkage screen for relative hand skill in sibling pairs. American Journal of Human Genetics, 70(3), 800-805. doi:10.1086/339249.

    Abstract

    Genomewide quantitative-trait locus (QTL) linkage analysis was performed using a continuous measure of relative hand skill (PegQ) in a sample of 195 reading-disabled sibling pairs from the United Kingdom. This was the first genomewide screen for any measure related to handedness. The mean PegQ in the sample was equivalent to that of normative data, and PegQ was not correlated with tests of reading ability (correlations between −0.13 and 0.05). Relative hand skill could therefore be considered normal within the sample. A QTL on chromosome 2p11.2-12 yielded strong evidence for linkage to PegQ (empirical P=.00007), and another suggestive QTL on 17p11-q23 was also identified (empirical P=.002). The 2p11.2-12 locus was further analyzed in an independent sample of 143 reading-disabled sibling pairs, and this analysis yielded an empirical P=.13. Relative hand skill therefore is probably a complex multifactorial phenotype with a heterogeneous background, but nevertheless is amenable to QTL-based gene-mapping approaches.
  • Francks, C., Fisher, S. E., Olson, R. K., Pennington, B. F., Smith, S. D., DeFries, J. C., & Monaco, A. P. (2002). Fine mapping of the chromosome 2p12-16 dyslexia susceptibility locus: Quantitative association analysis and positional candidate genes SEMA4F and OTX1. Psychiatric Genetics, 12(1), 35-41.

    Abstract

    A locus on chromosome 2p12-16 has been implicated in dyslexia susceptibility by two independent linkage studies, including our own study of 119 nuclear twin-based families, each with at least one reading-disabled child. Nonetheless, no variant of any gene has been reported to show association with dyslexia, and no consistent clinical evidence exists to identify candidate genes with any strong a priori logic. We used 21 microsatellite markers spanning 2p12-16 to refine our 1-LOD unit linkage support interval to 12cM between D2S337 and D2S286. Then, in quantitative association analysis, two microsatellites yielded P values<0.05 across a range of reading-related measures (D2S2378 and D2S2114). The exon/intron borders of two positional candidate genes within the region were characterized, and the exons were screened for polymorphisms. The genes were Semaphorin4F (SEMA4F), which encodes a protein involved in axonal growth cone guidance, and OTX1, encoding a homeodomain transcription factor involved in forebrain development. Two non-synonymous single nucleotide polymorphisms were found in SEMA4F, each with a heterozygosity of 0.03. One intronic single nucleotide polymorphism between exons 12 and 13 of SEMA4F was tested for quantitative association, but no significant association was found. Only one single nucleotide polymorphism was found in OTX1, which was exonic but silent. Our data therefore suggest that linkage with reading disability at 2p12-16 is not caused by coding variants of SEMA4F or OTX1. Our study outlines the approach necessary for the identification of genetic variants causing dyslexia susceptibility in an epidemiological population of dyslexics.
  • Francks, C. (2011). Leucine-rich repeat genes and the fine-tuning of synapses. Biological Psychiatry, 69, 820-821. doi:10.1016/j.biopsych.2010.12.018.
  • Francks, C., MacPhie, I. L., & Monaco, A. P. (2002). The genetic basis of dyslexia. The Lancet Neurology, 1(8), 483-490. doi:10.1016/S1474-4422(02)00221-1.

    Abstract

    Dyslexia, a disorder of reading and spelling, is a heterogeneous neurological syndrome with a complex genetic and environmental aetiology. People with dyslexia differ in their individual profiles across a range of cognitive, physiological, and behavioural measures related to reading disability. Some or all of the subtypes of dyslexia might have partly or wholly distinct genetic causes. An understanding of the role of genetics in dyslexia could help to diagnose and treat susceptible children more effectively and rapidly than is currently possible and in ways that account for their individual disabilities. This knowledge will also give new insights into the neurobiology of reading and language cognition. Genetic linkage analysis has identified regions of the genome that might harbour inherited variants that cause reading disability. In particular, loci on chromosomes 6 and 18 have shown strong and replicable effects on reading abilities. These genomic regions contain tens or hundreds of candidate genes, and studies aimed at the identification of the specific causal genetic variants are underway.
  • Frank, M. C., Bergelson, E., Bergmann, C., Cristia, A., Floccia, C., Gervain, J., Hamlin, J. K., Hannon, E. E., Kline, M., Levelt, C., Lew-Williams, C., Nazzi, T., Panneton, R., Rabagliati, H., Soderstrom, M., Sullivan, J., Waxman, S., & Yurovsky, D. (2017). A collaborative approach to infant research: Promoting reproducibility, best practices, and theory-building. Infancy, 22(4), 421-435. doi:10.1111/infa.12182.

    Abstract

    The ideal of scientific progress is that we accumulate measurements and integrate these into theory, but recent discussion of replicability issues has cast doubt on whether psychological research conforms to this model. Developmental research—especially with infant participants—also has discipline-specific replicability challenges, including small samples and limited measurement methods. Inspired by collaborative replication efforts in cognitive and social psychology, we describe a proposal for assessing and promoting replicability in infancy research: large-scale, multi-laboratory replication efforts aiming for a more precise understanding of key developmental phenomena. The ManyBabies project, our instantiation of this proposal, will not only help us estimate how robust and replicable these phenomena are, but also gain new theoretical insights into how they vary across ages, linguistic communities, and measurement methods. This project has the potential for a variety of positive outcomes, including less-biased estimates of theoretically important effects, estimates of variability that can be used for later study planning, and a series of best-practices blueprints for future infancy research.
  • Frank, S. L., & Fitz, H. (2016). Reservoir computing and the Sooner-is-Better bottleneck [Commentary on Christiansen & Slater]. Behavioral and Brain Sciences, 39: e73. doi:10.1017/S0140525X15000783.

    Abstract

    Prior language input is not lost but integrated with the current input. This principle is demonstrated by “reservoir computing”: Untrained recurrent neural networks project input sequences onto a random point in high-dimensional state space. Earlier inputs can be retrieved from this projection, albeit less reliably so as more input is received. The bottleneck is therefore not “Now-or-Never” but “Sooner-is-Better.
  • Frank, S. L., & Willems, R. M. (2017). Word predictability and semantic similarity show distinct patterns of brain activity during language comprehension. Language, Cognition and Neuroscience, 32(9), 1192-1203. doi:10.1080/23273798.2017.1323109.

    Abstract

    We investigate the effects of two types of relationship between the words of a sentence or text – predictability and semantic similarity – by reanalysing electroencephalography (EEG) and functional magnetic resonance imaging (fMRI) data from studies in which participants comprehend naturalistic stimuli. Each content word's predictability given previous words is quantified by a probabilistic language model, and semantic similarity to previous words is quantified by a distributional semantics model. Brain activity time-locked to each word is regressed on the two model-derived measures. Results show that predictability and semantic similarity have near identical N400 effects but are dissociated in the fMRI data, with word predictability related to activity in, among others, the visual word-form area, and semantic similarity related to activity in areas associated with the semantic network. This indicates that both predictability and similarity play a role during natural language comprehension and modulate distinct cortical regions.
  • Franke, B., Stein, J. L., Ripke, S., Anttila, V., Hibar, D. P., Van Hulzen, K. J. E., Arias-Vasquez, A., Smoller, J. W., Nichols, T. E., Neale, M. C., McIntosh, A. M., Lee, P., McMahon, F. J., Meyer-Lindenberg, A., Mattheisen, M., Andreassen, O. A., Gruber, O., Sachdev, P. S., Roiz-Santiañez, R., Saykin, A. J. and 17 moreFranke, B., Stein, J. L., Ripke, S., Anttila, V., Hibar, D. P., Van Hulzen, K. J. E., Arias-Vasquez, A., Smoller, J. W., Nichols, T. E., Neale, M. C., McIntosh, A. M., Lee, P., McMahon, F. J., Meyer-Lindenberg, A., Mattheisen, M., Andreassen, O. A., Gruber, O., Sachdev, P. S., Roiz-Santiañez, R., Saykin, A. J., Ehrlich, S., Mather, K. A., Turner, J. A., Schwarz, E., Thalamuthu, A., Yao, Y., Ho, Y. Y. W., Martin, N. G., Wright, M. J., Guadalupe, T., Fisher, S. E., Francks, C., Schizophrenia Working Group of the Psychiatric Genomics Consortium, ENIGMA Consortium, O’Donovan, M. C., Thompson, P. M., Neale, B. M., Medland, S. E., & Sullivan, P. F. (2016). Genetic influences on schizophrenia and subcortical brain volumes: large-scale proof of concept. Nature Neuroscience, 19, 420-431. doi:10.1038/nn.4228.

    Abstract

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

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  • Franken, M. K., Acheson, D. J., McQueen, J. M., Eisner, F., & Hagoort, P. (2017). Individual variability as a window on production-perception interactions in speech motor control. The Journal of the Acoustical Society of America, 142(4), 2007-2018. doi:10.1121/1.5006899.

    Abstract

    An important part of understanding speech motor control consists of capturing the
    interaction between speech production and speech perception. This study tests a
    prediction of theoretical frameworks that have tried to account for these interactions: if
    speech production targets are specified in auditory terms, individuals with better
    auditory acuity should have more precise speech targets, evidenced by decreased
    within-phoneme variability and increased between-phoneme distance. A study was
    carried out consisting of perception and production tasks in counterbalanced order.
    Auditory acuity was assessed using an adaptive speech discrimination task, while
    production variability was determined using a pseudo-word reading task. Analyses of
    the production data were carried out to quantify average within-phoneme variability as
    well as average between-phoneme contrasts. Results show that individuals not only
    vary in their production and perceptual abilities, but that better discriminators have
    more distinctive vowel production targets (that is, targets with less within-phoneme
    variability and greater between-phoneme distances), confirming the initial hypothesis.
    This association between speech production and perception did not depend on local
    phoneme density in vowel space. This study suggests that better auditory acuity leads
    to more precise speech production targets, which may be a consequence of auditory
    feedback affecting speech production over time.
  • Fransson, P., Merboldt, K.-D., Petersson, K. M., Ingvar, M., & Frahm, J. (2002). On the effects of spatial filtering — A comparative fMRI study of episodic memory encoding at high and low resolution. NeuroImage, 16(4), 977-984. doi:10.1006/nimg.2002.1079.

    Abstract

    Theeffects of spatial filtering in functional magnetic resonance imaging were investigated by reevaluating the data of a previous study of episodic memory encoding at 2 × 2 × 4-mm3 resolution with use of a SPM99 analysis involving a Gaussian kernel of 8-mm full width at half maximum. In addition, a multisubject analysis of activated regions was performed by normalizing the functional images to an approximate Talairach brain atlas. In individual subjects, spatial filtering merged activations in anatomically separated brain regions. Moreover, small foci of activated pixels which originated from veins became blurred and hence indistinguishable from parenchymal responses. The multisubject analysis resulted in activation of the hippocampus proper, a finding which could not be confirmed by the activation maps obtained at high resolution. It is concluded that the validity of multisubject fMRI analyses can be considerably improved by first analyzing individual data sets at optimum resolution to assess the effects of spatial filtering and minimize the risk of signal contamination by macroscopically visible vessels.
  • Frega, M., van Gestel, S. H. C., Linda, K., Van der Raadt, J., Keller, J., Van Rhijn, J. R., Schubert, D., Albers, C. A., & Kasri, N. N. (2017). Rapid neuronal differentiation of induced pluripotent stem cells for measuring network activity on micro-electrode arrays. Journal of Visualized Experiments, e45900. doi:10.3791/54900.

    Abstract

    Neurons derived from human induced Pluripotent Stem Cells (hiPSCs) provide a promising new tool for studying neurological disorders. In the past decade, many protocols for differentiating hiPSCs into neurons have been developed. However, these protocols are often slow with high variability, low reproducibility, and low efficiency. In addition, the neurons obtained with these protocols are often immature and lack adequate functional activity both at the single-cell and network levels unless the neurons are cultured for several months. Partially due to these limitations, the functional properties of hiPSC-derived neuronal networks are still not well characterized. Here, we adapt a recently published protocol that describes production of human neurons from hiPSCs by forced expression of the transcription factor neurogenin-212. This protocol is rapid (yielding mature neurons within 3 weeks) and efficient, with nearly 100% conversion efficiency of transduced cells (>95% of DAPI-positive cells are MAP2 positive). Furthermore, the protocol yields a homogeneous population of excitatory neurons that would allow the investigation of cell-type specific contributions to neurological disorders. We modified the original protocol by generating stably transduced hiPSC cells, giving us explicit control over the total number of neurons. These cells are then used to generate hiPSC-derived neuronal networks on micro-electrode arrays. In this way, the spontaneous electrophysiological activity of hiPSC-derived neuronal networks can be measured and characterized, while retaining interexperimental consistency in terms of cell density. The presented protocol is broadly applicable, especially for mechanistic and pharmacological studies on human neuronal networks.

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  • Freunberger, D., & Nieuwland, M. S. (2016). Incremental comprehension of spoken quantifier sentences: Evidence from brain potentials. Brain Research, 1646, 475-481. doi:10.1016/j.brainres.2016.06.035.

    Abstract

    Do people incrementally incorporate the meaning of quantifier expressions to understand an unfolding sentence? Most previous studies concluded that quantifiers do not immediately influence how a sentence is understood based on the observation that online N400-effects differed from offline plausibility judgments. Those studies, however, used serial visual presentation (SVP), which involves unnatural reading. In the current ERP-experiment, we presented spoken positive and negative quantifier sentences (“Practically all/practically no postmen prefer delivering mail, when the weather is good/bad during the day”). Different from results obtained in a previously reported SVP-study (Nieuwland, 2016) sentence truth-value N400 effects occurred in positive and negative quantifier sentences alike, reflecting fully incremental quantifier comprehension. This suggests that the prosodic information available during spoken language comprehension supports the generation of online predictions for upcoming words and that, at least for quantifier sentences, comprehension of spoken language may proceed more incrementally than comprehension during SVP reading.
  • Friederici, A., & Levelt, W. J. M. (1987). Resolving perceptual conflicts: The cognitive mechanism of spatial orientation. Aviation, Space, and Environmental Medicine, 58(9), A164-A169.
  • Frost, R. L. A., Monaghan, P., & Tatsumi, T. (2017). Domain-general mechanisms for speech segmentation: The role of duration information in language learning. Journal of Experimental Psychology: Human Perception and Performance, 43(3), 466-476. doi:10.1037/xhp0000325.

    Abstract

    Speech segmentation is supported by multiple sources of information that may either inform language processing specifically, or serve learning more broadly. The Iambic/Trochaic Law (ITL), where increased duration indicates the end of a group and increased emphasis indicates the beginning of a group, has been proposed as a domain-general mechanism that also applies to language. However, language background has been suggested to modulate use of the ITL, meaning that these perceptual grouping preferences may instead be a consequence of language exposure. To distinguish between these accounts, we exposed native-English and native-Japanese listeners to sequences of speech (Experiment 1) and nonspeech stimuli (Experiment 2), and examined segmentation using a 2AFC task. Duration was manipulated over 3 conditions: sequences contained either an initial-item duration increase, or a final-item duration increase, or items of uniform duration. In Experiment 1, language background did not affect the use of duration as a cue for segmenting speech in a structured artificial language. In Experiment 2, the same results were found for grouping structured sequences of visual shapes. The results are consistent with proposals that duration information draws upon a domain-general mechanism that can apply to the special case of language acquisition
  • Frost, R. L. A., & Monaghan, P. (2016). Simultaneous segmentation and generalisation of non-adjacent dependencies from continuous speech. Cognition, 147, 70-74. doi:10.1016/j.cognition.2015.11.010.

    Abstract

    Language learning requires mastering multiple tasks, including segmenting speech to identify words, and learning the syntactic role of these words within sentences. A key question in language acquisition research is the extent to which these tasks are sequential or successive, and consequently whether they may be driven by distinct or similar computations. We explored a classic artificial language learning paradigm, where the language structure is defined in terms of non-adjacent dependencies. We show that participants are able to use the same statistical information at the same time to segment continuous speech to both identify words and to generalise over the structure, when the generalisations were over novel speech that the participants had not previously experienced. We suggest that, in the absence of evidence to the contrary, the most economical explanation for the effects is that speech segmentation and grammatical generalisation are dependent on similar statistical processing mechanisms.
  • Frost, R. L. A., & Monaghan, P. (2017). Sleep-driven computations in speech processing. PLoS One, 12(1): e0169538. doi:10.1371/journal.pone.0169538.

    Abstract

    Acquiring language requires segmenting speech into individual words, and abstracting over those words to discover grammatical structure. However, these tasks can be conflicting—on the one hand requiring memorisation of precise sequences that occur in speech, and on the other requiring a flexible reconstruction of these sequences to determine the grammar. Here, we examine whether speech segmentation and generalisation of grammar can occur simultaneously—with the conflicting requirements for these tasks being over-come by sleep-related consolidation. After exposure to an artificial language comprising words containing non-adjacent dependencies, participants underwent periods of consolidation involving either sleep or wake. Participants who slept before testing demonstrated a sustained boost to word learning and a short-term improvement to grammatical generalisation of the non-adjacencies, with improvements after sleep outweighing gains seen after an equal period of wake. Thus, we propose that sleep may facilitate processing for these conflicting tasks in language acquisition, but with enhanced benefits for speech segmentation.

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  • Fueller, C., Loescher, J., & Indefrey, P. (2013). Writing superiority in cued recall. Frontiers in Psychology, 4: 764. doi:10.3389/fpsyg.2013.00764.

    Abstract

    In list learning paradigms with free recall, written recall has been found to be less susceptible to intrusions of related concepts than spoken recall when the list items had been visually presented. This effect has been ascribed to the use of stored orthographic representations from the study phase during written recall (Kellogg, 2001). In other memory retrieval paradigms, by contrast, either better recall for modality-congruent items or an input-independent writing superiority effect have been found (Grabowski, 2005). In a series of four experiments using a paired associate learning paradigm we tested (a) whether output modality effects on verbal recall can be replicated in a paradigm that does not involve the rejection of semantically related intrusion words, (b) whether a possible superior performance for written recall was due to a slower response onset for writing as compared to speaking in immediate recall, and (c) whether the performance in paired associate word recall was correlated with performance in an additional episodic memory recall task. We observed better written recall in the first half of the recall phase, irrespective of the modality in which the material was presented upon encoding. An explanation for this effect based on longer response latencies for writing and hence more time for memory retrieval could be ruled out by showing that the effect persisted in delayed response versions of the task. Although there was some evidence that stored additional episodic information may contribute to the successful retrieval of associate words, this evidence was only found in the immediate response experiments and hence is most likely independent from the observed output modality effect. In sum, our results from a paired associate learning paradigm suggest that superior performance for written vs. spoken recall cannot be (solely) explained in terms of additional access to stored orthographic representations from the encoding phase. Our findings rather suggest a general writing-superiority effect at the time of memory retrieval.
  • Ganushchak, L. Y., Verdonschot, R. G., & Schiller, N. O. (2011). When leaf becomes neuter: Event related potential evidence for grammatical gender transfer in bilingualism. Neuroreport, 22(3), 106-110. doi:10.1097/WNR.0b013e3283427359.

    Abstract

    This study addressed the question as to whether grammatical properties of a first language are transferred to a second language. Dutch-English bilinguals classified Dutch words in white print according to their grammatical gender and colored words (i.e. Dutch common and neuter words, and their English translations) according to their color. Both the classifications were made with the same hand (congruent trials) or different hands (incongruent trials). Performance was more erroneous and the error-elated negativity was enhanced on incongruent compared with congruent trials. This effect was independent of the language in which words were presented. These results provide evidence for the fact thatbilinguals may transfer grammatical characteristics oftheir first language to a second language, even when such characteristics are absent in the grammar of the latter.

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  • Ganushchak, L. Y., Krott, A., Frisson, S., & Meyer, A. S. (2013). Processing words and Short Message Service shortcuts in sentential contexts: An eye movement study. Applied Psycholinguistics, 34, 163-179. doi:10.1017/S0142716411000658.

    Abstract

    The present study investigated whether Short Message Service shortcuts are more difficult to process in sentence context than the spelled-out word equivalent and, if so, how any additional processing difficulty arises. Twenty-four student participants read 37 Short Message Service shortcuts and word equivalents embedded in semantically plausible and implausible contexts (e.g., He left/drank u/you a note) while their eye movements were recorded. There were effects of plausibility and spelling on early measures of processing difficulty (first fixation durations, gaze durations, skipping, and first-pass regression rates for the targets), but there were no interactions of plausibility and spelling. Late measures of processing difficulty (second run gaze duration and total fixation duration) were only affected by plausibility but not by spelling. These results suggest that shortcuts are harder to recognize, but that, once recognized, they are integrated into the sentence context as easily as ordinary words.
  • Ganushchak, L. Y., Christoffels, I., & Schiller, N. (2011). The use of electroencephalography (EEG) in language production research: A review. Frontiers in Psychology, 2, 208. doi:10.3389/fpsyg.2011.00208.

    Abstract

    Speech production long avoided electrophysiological experiments due to the suspicion that potential artifacts caused by muscle activity of overt speech may lead to a bad signal-to-noise ratio in the measurements. Therefore, researchers have sought to assess speech production by using indirect speech production tasks, such as tacit or implicit naming, delayed naming, or metalinguistic tasks, such as phoneme monitoring. Covert speech may, however, involve different processes than overt speech production. Recently, overt speech has been investigated using EEG. As the number of papers published is rising steadily, this clearly indicates the increasing interest and demand for overt speech research within the field of cognitive neuroscience of language. Our main goal here is to review all currently available results of overt speech production involving EEG measurements, such as picture naming, Stroop naming, and reading aloud. We conclude that overt speech production can be successfully studied using electrophysiological measures, for instance, event-related brain potentials (ERPs). We will discuss possible relevant components in the ERP waveform of speech production and aim to address the issue of how to interpret the results of ERP research using overt speech, and whether the ERP components in language production are comparable to results from other fields.
  • Gaspard III, J. C., Bauer, G. B., Mann, D. A., Boerner, K., Denum, L., Frances, C., & Reep, R. L. (2017). Detection of hydrodynamic stimuli by the postcranial body of Florida manatees (Trichechus manatus latirostris) A Neuroethology, sensory, neural, and behavioral physiology. Journal of Comparative Physiology, 203, 111-120. doi:10.1007/s00359-016-1142-8.

    Abstract

    Manatees live in shallow, frequently turbid
    waters. The sensory means by which they navigate in these
    conditions are unknown. Poor visual acuity, lack of echo-
    location, and modest chemosensation suggest that other
    modalities play an important role. Rich innervation of sen-
    sory hairs that cover the entire body and enlarged soma-
    tosensory areas of the brain suggest that tactile senses are
    good candidates. Previous tests of detection of underwater
    vibratory stimuli indicated that they use passive movement
    of the hairs to detect particle displacements in the vicinity
    of a micron or less for frequencies from 10 to 150 Hz. In
    the current study, hydrodynamic stimuli were created by
    a sinusoidally oscillating sphere that generated a dipole
    field at frequencies from 5 to 150 Hz. Go/no-go tests of
    manatee postcranial mechanoreception of hydrodynamic
    stimuli indicated excellent sensitivity but about an order of
    magnitude less than the facial region. When the vibrissae
    were trimmed, detection thresholds were elevated, suggest-
    ing that the vibrissae were an important means by which
    detection occurred. Manatees were also highly accurate in two-choice directional discrimination: greater than 90%
    correct at all frequencies tested. We hypothesize that mana-
    tees utilize vibrissae as a three-dimensional array to detect
    and localize low-frequency hydrodynamic stimuli
  • Gaub, S., Fisher, S. E., & Ehret, G. (2016). Ultrasonic vocalizations of adult male Foxp2-mutant mice: Behavioral contexts of arousal and emotion. Genes, Brain and Behavior, 15(2), 243-259. doi:10.1111/gbb.12274.

    Abstract

    Adult mouse ultrasonic vocalizations (USVs) occur in multiple behavioral and stimulus contexts associated with various levels of arousal, emotion, and social interaction. Here, in three experiments of increasing stimulus intensity (water; female urine; male interacting with adult female), we tested the hypothesis that USVs of adult males express the strength of arousal and emotion via different USV parameters (18 parameters analyzed). Furthermore, we analyzed two mouse lines with heterozygous Foxp2 mutations (R552H missense, S321X nonsense), known to produce severe speech and language disorders in humans. These experiments allowed us to test whether intact Foxp2 function is necessary for developing full adult USV repertoires, and whether mutations of this gene influence instinctive vocal expressions based on arousal and emotion. The results suggest that USV calling rate characterizes the arousal level, while sound pressure and spectro-temporal call complexity (overtones/harmonics, type of frequency jumps) may provide indices of levels of positive emotion. The presence of Foxp2 mutations did not qualitatively affect the USVs; all USV types that were found in wild-type animals also occurred in heterozygous mutants. However, mice with Foxp2 mutations displayed quantitative differences in USVs as compared to wild-types, and these changes were context dependent. Compared to wild-type animals, heterozygous mutants emitted mainly longer and louder USVs at higher minimum frequencies with a higher occurrence rate of overtones/harmonics and complex frequency jump types. We discuss possible hypotheses about Foxp2 influence on emotional vocal expressions, which can be investigated in future experiments using selective knockdown of Foxp2 in specific brain circuits.
  • Gauvin, H. S., Hartsuiker, R. J., & Huettig, F. (2013). Speech monitoring and phonologically-mediated eye gaze in language perception and production: A comparison using printed word eye-tracking. Frontiers in Human Neuroscience, 7: 818. doi:10.3389/fnhum.2013.00818.

    Abstract

    The Perceptual Loop Theory of speech monitoring assumes that speakers routinely inspect their inner speech. In contrast, Huettig and Hartsuiker (2010) observed that listening to one’s own speech during language production drives eye-movements to phonologically related printed words with a similar time-course as listening to someone else’s speech does in speech perception experiments. This suggests that speakers listen to their own overt speech, but not to their inner speech. However, a direct comparison between production and perception with the same stimuli and participants is lacking so far. The current printed word eye-tracking experiment therefore used a within-subjects design, combining production and perception. Displays showed four words, of which one, the target, either had to be named or was presented auditorily. Accompanying words were phonologically related, semantically related, or unrelated to the target. There were small increases in looks to phonological competitors with a similar time-course in both production and perception. Phonological effects in perception however lasted longer and had a much larger magnitude. We conjecture that this difference is related to a difference in predictability of one’s own and someone else’s speech, which in turn has consequences for lexical competition in other-perception and possibly suppression of activation in self-perception.
  • Gavin, M., Botero, C. A., Bowern, C., Colwell, R. K., Dunn, M., Dunn, R. R., Gray, R. D., Kirby, K. R., McCarter, J., Powell, A., Rangel, T. F., Steppe, J. R., Trautwein, M., Verdolin, J. L., & Yanega, G. (2013). Towards a mechanistic understanding of linguistic diversity. Bioscience, 63, 524-535. doi:10.1525/bio.2013.63.7.6.

    Abstract

    Our species displays remarkable linguistic diversity. While the uneven distribution of this diversity demands explanation, the drivers of these patterns have not been conclusively determined. We address this issue in two steps. First, we review previous empirical studies that have suggested environmental, geographical, and socio-cultural drivers of linguistic diversification. However, contradictory results and methodological variation make it difficult to draw general conclusions. Second, we outline a program for future research. We suggest that future analyses should account for interactions among causal factors, lack of spatial and phylogenetic independence of data, and transitory patterns. Recent analytical advances in biogeography and evolutionary biology, such as simulation modeling of diversity patterns, hold promise for testing four key mechanisms of language diversification proposed here: neutral change, population movement, contact, and selection. Future modeling approaches should also evaluate how the outcomes of these processes are influenced by demography, environmental heterogeneity, and time.
  • Geambaşu, A., Ravignani, A., & Levelt, C. C. (2016). Preliminary experiments on human sensitivity to rhythmic structure in a grammar with recursive self-similarity. Frontiers in Neuroscience, 10: 281. doi:10.3389/fnins.2016.00281.

    Abstract

    We present the first rhythm detection experiment using a Lindenmayer grammar, a self-similar recursive grammar shown previously to be learnable by adults using speech stimuli. Results show that learners were unable to correctly accept or reject grammatical and ungrammatical strings at the group level, although five (of 40) participants were able to do so with detailed instructions before the exposure phase.
  • Gentner, D., Ozyurek, A., Gurcanli, O., & Goldin-Meadow, S. (2013). Spatial language facilitates spatial cognition: Evidence from children who lack language input. Cognition, 127, 318-330. doi:10.1016/j.cognition.2013.01.003.

    Abstract

    Does spatial language influence how people think about space? To address this question, we observed children who did not know a conventional language, and tested their performance on nonlinguistic spatial tasks. We studied deaf children living in Istanbul whose hearing losses prevented them from acquiring speech and whose hearing parents had not exposed them to sign. Lacking a conventional language, the children used gestures, called homesigns, to communicate. In Study 1, we asked whether homesigners used gesture to convey spatial relations, and found that they did not. In Study 2, we tested a new group of homesigners on a Spatial Mapping Task, and found that they performed significantly worse than hearing Turkish children who were matched to the deaf children on another cognitive task. The absence of spatial language thus went hand-in-hand with poor performance on the nonlinguistic spatial task, pointing to the importance of spatial language in thinking about space.
  • Gertz, J., Varley, K. E., Reddy, T. E., Bowling, K. M., Pauli, F., Parker, S. L., Kucera, K. S., Willard, H. F., & Myers, R. M. (2011). Analysis of DNA Methylation in a three-generation family reveals widespread genetic influence on epigenetic regulation. PLoS Genetics, 7, e1002228. doi:10.1371/journal.pgen.1002228.

    Abstract

    The methylation of cytosines in CpG dinucleotides is essential for cellular differentiation and the progression of many cancers, and it plays an important role in gametic imprinting. To assess variation and inheritance of genome-wide patterns of DNA methylation simultaneously in humans, we applied reduced representation bisulfite sequencing (RRBS) to somatic DNA from six members of a three-generation family. We observed that 8.1% of heterozygous SNPs are associated with differential methylation in cis, which provides a robust signature for Mendelian transmission and relatedness. The vast majority of differential methylation between homologous chromosomes (>92%) occurs on a particular haplotype as opposed to being associated with the gender of the parent of origin, indicating that genotype affects DNA methylation of far more loci than does gametic imprinting. We found that 75% of genotype-dependent differential methylation events in the family are also seen in unrelated individuals and that overall genotype can explain 80% of the variation in DNA methylation. These events are under-represented in CpG islands, enriched in intergenic regions, and located in regions of low evolutionary conservation. Even though they are generally not in functionally constrained regions, 22% (twice as many as expected by chance) of genes harboring genotype-dependent DNA methylation exhibited allele-specific gene expression as measured by RNA-seq of a lymphoblastoid cell line, indicating that some of these events are associated with gene expression differences. Overall, our results demonstrate that the influence of genotype on patterns of DNA methylation is widespread in the genome and greatly exceeds the influence of imprinting on genome-wide methylation patterns.
  • Gialluisi, A., Incollu, S., Pippucci, T., Lepori, M. B., Zappu, A., Loudianos, G., & Romeo, G. (2013). The homozygosity index (HI) approach reveals high allele frequency for Wilson disease in the Sardinian population. European Journal of Human Genetics, 21, 1308-1311. doi:10.1038/ejhg.2013.43.

    Abstract

    Wilson disease (WD) is an autosomal recessive disorder resulting in pathological progressive copper accumulation in liver and other tissues. The worldwide prevalence (P) is about 30/million, while in Sardinia it is in the order of 1/10 000. However, all of these estimates are likely to suffer from an underdiagnosis bias. Indeed, a recent molecular neonatal screening in Sardinia reported a WD prevalence of 1:2707. In this study, we used a new approach that makes it possible to estimate the allelic frequency (q) of an autosomal recessive disorder if one knows the proportion between homozygous and compound heterozygous patients (the homozygosity index or HI) and the inbreeding coefficient (F) in a sample of affected individuals. We applied the method to a set of 178 Sardinian individuals (3 of whom born to consanguineous parents), each with a clinical and molecular diagnosis of WD. Taking into account the geographical provenance of the parents of every patient within Sardinia (to make F computation more precise), we obtained a q=0.0191 (F=7.8 × 10-4, HI=0.476) and a corresponding prevalence P=1:2732. This result confirms that the prevalence of WD is largely underestimated in Sardinia. On the other hand, the general reliability and applicability of the HI approach to other autosomal recessive disorders is confirmed, especially if one is interested in the genetic epidemiology of populations with high frequency of consanguineous marriages.
  • Gialluisi, A., Visconti, A., Wilcutt, E. G., Smith, S., Pennington, B., Falchi, M., DeFries, J., Olson, R., Francks, C., & Fisher, S. E. (2016). Investigating the effects of copy number variants on reading and language performance. Journal of Neurodevelopmental Disorders, 8: 17. doi:10.1186/s11689-016-9147-8.

    Abstract

    Background

    Reading and language skills have overlapping genetic bases, most of which are still unknown. Part of the missing heritability may be caused by copy number variants (CNVs).
    Methods

    In a dataset of children recruited for a history of reading disability (RD, also known as dyslexia) or attention deficit hyperactivity disorder (ADHD) and their siblings, we investigated the effects of CNVs on reading and language performance. First, we called CNVs with PennCNV using signal intensity data from Illumina OmniExpress arrays (~723,000 probes). Then, we computed the correlation between measures of CNV genomic burden and the first principal component (PC) score derived from several continuous reading and language traits, both before and after adjustment for performance IQ. Finally, we screened the genome, probe-by-probe, for association with the PC scores, through two complementary analyses: we tested a binary CNV state assigned for the location of each probe (i.e., CNV+ or CNV−), and we analyzed continuous probe intensity data using FamCNV.
    Results

    No significant correlation was found between measures of CNV burden and PC scores, and no genome-wide significant associations were detected in probe-by-probe screening. Nominally significant associations were detected (p~10−2–10−3) within CNTN4 (contactin 4) and CTNNA3 (catenin alpha 3). These genes encode cell adhesion molecules with a likely role in neuronal development, and they have been previously implicated in autism and other neurodevelopmental disorders. A further, targeted assessment of candidate CNV regions revealed associations with the PC score (p~0.026–0.045) within CHRNA7 (cholinergic nicotinic receptor alpha 7), which encodes a ligand-gated ion channel and has also been implicated in neurodevelopmental conditions and language impairment. FamCNV analysis detected a region of association (p~10−2–10−4) within a frequent deletion ~6 kb downstream of ZNF737 (zinc finger protein 737, uncharacterized protein), which was also observed in the association analysis using CNV calls.
    Conclusions

    These data suggest that CNVs do not underlie a substantial proportion of variance in reading and language skills. Analysis of additional, larger datasets is warranted to further assess the potential effects that we found and to increase the power to detect CNV effects on reading and language.
  • Gialluisi, A., Dediu, D., Francks, C., & Fisher, S. E. (2013). Persistence and transmission of recessive deafness and sign language: New insights from village sign languages. European Journal of Human Genetics, 21, 894-896. doi:10.1038/ejhg.2012.292.

    Abstract

    First paragraph: The study of the transmission of sign languages can give novel insights into the transmission of spoken languages1 and, more generally, into gene–culture coevolution. Over the years, several papers related to the persistence of sign language have been
    reported.2–6 All of these studies have emphasized the role of assortative (non-random) mating by deafness state (ie, a tendency for deaf individuals to partner together) for increasing the frequency of recessive deafness, and hence for the persistence of sign language in a population.
  • Gialluisi, A., Guadalupe, T., Francks, C., & Fisher, S. E. (2017). Neuroimaging genetic analyses of novel candidate genes associated with reading and language. Brain and Language, 172, 9-15. doi:10.1016/j.bandl.2016.07.002.

    Abstract

    Neuroimaging measures provide useful endophenotypes for tracing genetic effects on reading and language. A recent Genome-Wide Association Scan Meta-Analysis (GWASMA) of reading and language skills (N = 1862) identified strongest associations with the genes CCDC136/FLNC and RBFOX2. Here, we follow up the top findings from this GWASMA, through neuroimaging genetics in an independent sample of 1275 healthy adults. To minimize multiple-testing, we used a multivariate approach, focusing on cortical regions consistently implicated in prior literature on developmental dyslexia and language impairment. Specifically, we investigated grey matter surface area and thickness of five regions selected a priori: middle temporal gyrus (MTG); pars opercularis and pars triangularis in the inferior frontal gyrus (IFG-PO and IFG-PT); postcentral parietal gyrus (PPG) and superior temporal gyrus (STG). First, we analysed the top associated polymorphisms from the reading/language GWASMA: rs59197085 (CCDC136/FLNC) and rs5995177 (RBFOX2). There was significant multivariate association of rs5995177 with cortical thickness, driven by effects on left PPG, right MTG, right IFG (both PO and PT), and STG bilaterally. The minor allele, previously associated with reduced reading-language performance, showed negative effects on grey matter thickness. Next, we performed exploratory gene-wide analysis of CCDC136/FLNC and RBFOX2; no other associations surpassed significance thresholds. RBFOX2 encodes an important neuronal regulator of alternative splicing. Thus, the prior reported association of rs5995177 with reading/language performance could potentially be mediated by reduced thickness in associated cortical regions. In future, this hypothesis could be tested using sufficiently large samples containing both neuroimaging data and quantitative reading/language scores from the same individuals.

    Additional information

    mmc1.docx
  • Gibson, M., & Bosker, H. R. (2016). Over vloeiendheid in spraak. Tijdschrift Taal, 7(10), 40-45.
  • Gijssels, T., Staum Casasanto, L., Jasmin, K., Hagoort, P., & Casasanto, D. (2016). Speech accommodation without priming: The case of pitch. Discourse Processes, 53(4), 233-251. doi:10.1080/0163853X.2015.1023965.

    Abstract

    People often accommodate to each other's speech by aligning their linguistic production with their partner's. According to an influential theory, the Interactive Alignment Model (Pickering & Garrod, 2004), alignment is the result of priming. When people perceive an utterance, the corresponding linguistic representations are primed, and become easier to produce. Here we tested this theory by investigating whether pitch (F0) alignment shows two characteristic signatures of priming: dose dependence and persistence. In a virtual reality experiment, we manipulated the pitch of a virtual interlocutor's speech to find out (a.) whether participants accommodated to the agent's F0, (b.) whether the amount of accommodation increased with increasing exposure to the agent's speech, and (c.) whether changes to participants' F0 persisted beyond the conversation. Participants accommodated to the virtual interlocutor, but accommodation did not increase in strength over the conversation, and it disappeared immediately after the conversation ended. Results argue against a priming-based account of F0 accommodation, and indicate that an alternative mechanism is needed to explain alignment along continuous dimensions of language such as speech rate and pitch.
  • Glaser, B., Gunnell, D., Timpson, N. J., Joinson, C., Zammit, S., Smith, G. D., & Lewis, G. (2011). Age- and puberty-dependent association between IQ score in early childhood and depressive symptoms in adolescence. Psychological Medicine, 41(2), 333-343. doi:10.1017/S0033291710000814.

    Abstract

    BACKGROUND: Lower cognitive functioning in early childhood has been proposed as a risk factor for depression in later life but its association with depressive symptoms during adolescence has rarely been investigated. Our study examines the relationship between total intelligence quotient (IQ) score at age 8 years, and depressive symptoms at 11, 13, 14 and 17 years. METHOD: Study participants were 5250 children and adolescents from the Avon Longitudinal Study of Parents and their Children (ALSPAC), UK, for whom longitudinal data on depressive symptoms were available. IQ was assessed with the Wechsler Intelligence Scale for Children III, and self-reported depressive symptoms were measured with the Short Mood and Feelings Questionnaire (SMFQ). RESULTS: Multi-level analysis on continuous SMFQ scores showed that IQ at age 8 years was inversely associated with depressive symptoms at age 11 years, but the association changed direction by age 13 and 14 years (age-IQ interaction, p<}0.0001; age squared-IQ interaction, p{<}0.0001) when a higher IQ score was associated with a higher risk of depressive symptoms. This change in IQ effect was also found in relation to pubertal stage (pubertal stage-IQ interaction, 0.00049{

    Additional information

    S0033291710000814sup001.doc
  • Glaser, Y. G., Martin, R. C., Van Dyke, J. A., Hamilton, A. C., & Tan, Y. (2013). Neural basis of semantic and syntactic interference in sentence comprehension. Brain and Language, 126(3), 314-326. doi:10.1016/j.bandl.2013.06.006.

    Abstract

    According to the cue-based parsing approach (Lewis, Vasishth, & Van Dyke, 2006), sentence comprehension difficulty derives from interference from material that partially matches syntactic and semantic retrieval cues. In a 2 (low vs. high semantic interference) × 2 (low vs. high syntactic interference) fMRI study, greater activation was observed in left BA44/45 for high versus low syntactic interference conditions following sentences and in left BA45/47 for high versus low semantic interference conditions following comprehension questions. A conjunction analysis showed BA45 associated with both types of interference, while BA47 was associated with only semantic interference. Greater activation was also observed in the left STG in the high interference conditions. Importantly, the results for the LIFG could not be attributed to greater working memory capacity demands for high interference conditions. The results favor a fractionation of the LIFG wherein BA45 is associated with post-retrieval selection and BA47 with controlled retrieval of semantic information.
  • Golestani, N., Hervais-Adelman, A., Obleser, J., & Scott, S. K. (2013). Semantic versus perceptual interactions in neural processing of speech-in-noise. NeuroImage, 79, 52-61. doi:10.1016/j.neuroimage.2013.04.049.

    Abstract

    Native listeners make use of higher-level, context-driven semantic and linguistic information during the perception of speech-in-noise. In a recent behavioral study, using a new paradigm that isolated the semantic level of speech by using words, we showed that this native-language benefit is at least partly driven by semantic context (Golestani et al., 2009). Here, we used the same paradigm in a functional magnetic resonance imaging (fMRI) experiment to study the neural bases of speech intelligibility, as well as to study the neural bases of this semantic context effect in the native language. A forced-choice recognition task on the first of two auditorily presented semantically related or unrelated words was employed, where the first, 'target' word was embedded in different noise levels. Results showed that activation in components of the brain language network, including Broca's area and the left posterior superior temporal sulcus, as well as brain regions known to be functionally related to attention and task difficulty, was modulated by stimulus intelligibility. In line with several previous studies examining the role of linguistic context in the intelligibility of degraded speech at the sentence level, we found that activation in the angular gyrus of the left inferior parietal cortex was modulated by the presence of semantic context, and further, that this modulation depended on the intelligibility of the speech stimuli. Our findings help to further elucidate neural mechanisms underlying the interaction of context-driven and signal-driven factors during the perception of degraded speech, and this specifically at the semantic level. (c) 2013 Elsevier Inc. All rights reserved.
  • Goodhew, S. C., & Kidd, E. (2017). Language use statistics and prototypical grapheme colours predict synaesthetes' and non-synaesthetes' word-colour associations. Acta Psychologica, 173, 73-86. doi:10.1016/j.actpsy.2016.12.008.

    Abstract

    Synaesthesia is the neuropsychological phenomenon in which individuals experience unusual sensory associations, such as experiencing particular colours in response to particular words. While it was once thought the particular pairings between stimuli were arbitrary and idiosyncratic to particular synaesthetes, there is now growing evidence for a systematic psycholinguistic basis to the associations. Here we sought to assess the explanatory value of quantifiable lexical association measures (via latent semantic analysis; LSA) in the pairings observed between words and colours in synaesthesia. To test this, we had synaesthetes report the particular colours they experienced in response to given concept words, and found that language association between the concept and colour words provided highly reliable predictors of the reported pairings. These results provide convergent evidence for a psycholinguistic basis to synaesthesia, but in a novel way, showing that exposure to particular patterns of associations in language can predict the formation of particular synaesthetic lexical-colour associations. Consistent with previous research, the prototypical synaesthetic colour for the first letter of the word also played a role in shaping the colour for the whole word, and this effect also interacted with language association, such that the effect of the colour for the first letter was stronger as the association between the concept word and the colour word in language increased. Moreover, when a group of non-synaesthetes were asked what colours they associated with the concept words, they produced very similar reports to the synaesthetes that were predicted by both language association and prototypical synaesthetic colour for the first letter of the word. This points to a shared linguistic experience generating the associations for both groups.
  • Goodhew, S. C., & Kidd, E. (2016). The conceptual cueing database: Rated items for the study of the interaction between language and attention. Behavior Research Methods, 48(3), 1004-1007. doi:10.3758/s13428-015-0625-9.

    Abstract

    Humans appear to rely on spatial mappings to describe and represent concepts. In particular, conceptual cueing refers to the effect whereby after reading or hearing a particular word, the location of observers’ visual attention in space can be systematically shifted in a particular direction. For example, words such as “sun” and “happy” orient attention upwards, whereas words such as “basement” and “bitter” orient attention downwards. This area of research has garnered much interest, particularly within the embodied cognition framework, for its potential to enhance our understanding of the interaction between abstract cognitive processes such as language and basic visual processes such as attention and stimulus processing. To date, however, this area has relied on subjective classification criteria to determine whether words ought to be classified as having a meaning that implies “up” or “down.” The present study, therefore, provides a set of 498 items that have each been systematically rated by over 90 participants, providing refined, continuous measures of the extent to which people associate given words with particular spatial dimensions. The resulting database provides an objective means to aid item-selection for future research in this area.
  • Gordon, P. C., & Hoedemaker, R. S. (2016). Effective scheduling of looking and talking during rapid automatized naming. Journal of Experimental Psychology: Human Perception and Performance, 42(5), 742-760. doi:10.1037/xhp0000171.

    Abstract

    Rapid automatized naming (RAN) is strongly related to literacy gains in developing readers, reading disabilities, and reading ability in children and adults. Because successful RAN performance depends on the close coordination of a number of abilities, it is unclear what specific skills drive this RAN-reading relationship. The current study used concurrent recordings of young adult participants' vocalizations and eye movements during the RAN task to assess how individual variation in RAN performance depends on the coordination of visual and vocal processes. Results showed that fast RAN times are facilitated by having the eyes 1 or more items ahead of the current vocalization, as long as the eyes do not get so far ahead of the voice as to require a regressive eye movement to an earlier item. These data suggest that optimizing RAN performance is a problem of scheduling eye movements and vocalization given memory constraints and the efficiency of encoding and articulatory control. Both RAN completion time (conventionally used to indicate RAN performance) and eye-voice relations predicted some aspects of participants' eye movements on a separate sentence reading task. However, eye-voice relations predicted additional features of first-pass reading that were not predicted by RAN completion time. This shows that measurement of eye-voice patterns can identify important aspects of individual variation in reading that are not identified by the standard measure of RAN performance. We argue that RAN performance predicts reading ability because both tasks entail challenges of scheduling cognitive and linguistic processes that operate simultaneously on multiple linguistic inputs

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  • Goriot, C., Denessen, E., Bakker, J., & Droop, M. (2016). Benefits of being bilingual? The relationship between pupils’ perceptions of teachers’ appreciation of their home language and executive functioning. International Journal of Bilingualism, 20(6), 700-713. doi:10.1177/1367006915586470.

    Abstract

    Aims: We aimed to investigate whether bilingual pupil’s perceptions of teachers’ appreciation of their home language were of influence on bilingual cognitive advantages.
    Design: We examined whether Dutch bilingual primary school pupils who speak either German or Turkish at home differed in perceptions of their teacher’s appreciation of their HL, and whether these differences could explain differences between the two groups in executive functioning.
    Data and analysis: Executive functioning was measured through computer tasks, and perceived home language appreciation through orally administered questionnaires. The relationship between the two was assessed with regression analyses.
    Findings: German-Dutch pupils perceived there to be more appreciation of their home language from their teacher than Turkish-Dutch pupils. This difference did partly explain differences in executive functioning. Besides, we replicated bilingual advantages in nonverbal working memory and switching, but not in verbal working memory or inhibition.
    Originality and significance: This study demonstrates that bilingual advantages cannot be dissociated from the influence of the sociolinguistic context of the classroom. Thereby, it stresses the importance of culturally responsive teaching.
  • Goriot, C., Denessen, E., Bakker, J., & Droop, M. (2016). Zijn de voordelen van tweetaligheid voor alle tweetalige kinderen even groot? Een exploratief onderzoek naar de leerkrachtwaardering van de thuistaal van leerlingen en de invloed daarvan op de ontwikkeling van hun executieve functies. Pedagogiek, 16(2), 135-154. doi:10.5117/PED2016.2.GORI.

    Abstract

    Benefits of being bilingual? The relationship between pupils’ perceptions of
    teachers’ appreciation of their home language and executive functioning
    We aimed to investigate whether bilingual pupils’ perceptions of their
    teachers’ appreciation of their Home Language (HL) were of influence on
    bilingual cognitive advantages. We examined whether Dutch bilingual primary
    school pupils who speak either German or Turkish at home differed in
    perceptions of their teacher’s appreciation of their HL, and whether these
    differences could explain differences between the two groups in executive
    functioning. Executive functioning was measured through computer tasks,
    and perceived HL appreciation through orally administered questionnaires.
    The relationship between the two was assessed with regression analyses.
    German-Dutch pupils perceived more appreciation of their home language
    from their teacher than Turkish-Dutch pupils did. This difference partly
    explained differences in executive functioning. Besides, we replicated bilingual
    advantages in nonverbal working memory and switching, but not in
    verbal working memory or inhibition. This study demonstrates that bilingual
    advantages cannot be dissociated from the influence of the sociolinguistic
    context of the classroom. Thereby, it stresses the importance of culturally
    responsive teaching.
  • De Graaf, T. A., Duecker, F., Stankevich, Y., Ten Oever, S., & Sack, A. T. (2017). Seeing in the dark: Phosphene thresholds with eyes open versus closed in the absence of visual inputs. Brain Stimulation, 10(4), 828-835. doi:10.1016/j.brs.2017.04.127.

    Abstract

    Background: Voluntarily opening or closing our eyes results in fundamentally different input patterns and expectancies. Yet it remains unclear how our brains and visual systems adapt to these ocular states.
    Objective/Hypothesis: We here used transcranial magnetic stimulation (TMS) to probe the excitability of the human visual system with eyes open or closed, in the complete absence of visual inputs.
    Methods: Combining Bayesian staircase procedures with computer control of TMS pulse intensity allowed interleaved determination of phosphene thresholds (PT) in both conditions. We measured parieto-occipital EEG baseline activity in several stages to track oscillatory power in the alpha (8-12 Hz) frequency-band, which has previously been shown to be inversely related to phosphene perception.
    Results: Since closing the eyes generally increases alpha power, one might have expected a decrease in excitability (higher PT). While we confirmed a rise in alpha power with eyes closed, visual excitability was actually increased (PT was lower) with eyes closed.
    Conclusions: This suggests that, aside from oscillatory alpha power, additional neuronal mechanisms influence the excitability of early visual cortex. One of these may involve a more internally oriented mode of brain operation, engaged by closing the eyes. In this state, visual cortex may be more susceptible to top-down inputs, to facilitate for example multisensory integration or imagery/working memory, although alternative explanations remain possible. (C) 2017 Elsevier Inc. All rights reserved.

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  • Grabot, L., Kösem, A., Azizi, L., & Van Wassenhove, V. (2017). Prestimulus Alpha Oscillations and the Temporal Sequencing of Audio-visual Events. Journal of Cognitive Neuroscience, 29(9), 1566-1582. doi:10.1162/jocn_a_01145.

    Abstract

    Perceiving the temporal order of sensory events typically depends on participants' attentional state, thus likely on the endogenous fluctuations of brain activity. Using magnetoencephalography, we sought to determine whether spontaneous brain oscillations could disambiguate the perceived order of auditory and visual events presented in close temporal proximity, that is, at the individual's perceptual order threshold (Point of Subjective Simultaneity [PSS]). Two neural responses were found to index an individual's temporal order perception when contrasting brain activity as a function of perceived order (i.e., perceiving the sound first vs. perceiving the visual event first) given the same physical audiovisual sequence. First, average differences in prestimulus auditory alpha power indicated perceiving the correct ordering of audiovisual events irrespective of which sensory modality came first: a relatively low alpha power indicated perceiving auditory or visual first as a function of the actual sequence order. Additionally, the relative changes in the amplitude of the auditory (but not visual) evoked responses were correlated with participant's correct performance. Crucially, the sign of the magnitude difference in prestimulus alpha power and evoked responses between perceived audiovisual orders correlated with an individual's PSS. Taken together, our results suggest that spontaneous oscillatory activity cannot disambiguate subjective temporal order without prior knowledge of the individual's bias toward perceiving one or the other sensory modality first. Altogether, our results suggest that, under high perceptual uncertainty, the magnitude of prestimulus alpha (de)synchronization indicates the amount of compensation needed to overcome an individual's prior in the serial ordering and temporal sequencing of information
  • Graham, S. A., & Fisher, S. E. (2013). Decoding the genetics of speech and language. Current Opinion in Neurobiology, 23, 43-51. doi:10.1016/j.conb.2012.11.006.

    Abstract

    Researchers are beginning to uncover the neurogenetic pathways that underlie our unparalleled capacity for spoken language. Initial clues come from identification of genetic risk factors implicated in developmental language disorders. The underlying genetic architecture is complex, involving a range of molecular mechanisms. For example, rare protein-coding mutations of the FOXP2 transcription factor cause severe problems with sequencing of speech sounds, while common genetic risk variants of small effect size in genes like CNTNAP2, ATP2C2 and CMIP are associated with typical forms of language impairment. In this article, we describe how investigations of these and other candidate genes, in humans, animals and cellular models, are unravelling the connections between genes and cognition. This depends on interdisciplinary research at multiple levels, from determining molecular interactions and functional roles in neural cell-biology all the way through to effects on brain structure and activity.
  • Graham, S. A., Antonopoulos, A., Hitchen, P. G., Haslam, S. M., Dell, A., Drickamer, K., & Taylor, M. E. (2011). Identification of neutrophil granule glycoproteins as Lewisx-containing ligands cleared by the scavenger receptor C-type lectin. Journal of Biological Chemistry, 286, 24336-24349. doi:10.1074/jbc.M111.244772.

    Abstract

    The scavenger receptor C-type lectin (SRCL) is a glycan-binding receptor that has the capacity to mediate endocytosis of glycoproteins carrying terminal Lewis(x) groups (Galβ1-4(Fucα1-3)GlcNAc). A screen for glycoprotein ligands for SRCL using affinity chromatography on immobilized SRCL followed by mass spectrometry-based proteomic analysis revealed that soluble glycoproteins from secondary granules of neutrophils, including lactoferrin and matrix metalloproteinases 8 and 9, are major ligands. Binding competition and surface plasmon resonance analysis showed affinities in the low micromolar range. Comparison of SRCL binding to neutrophil and milk lactoferrin indicates that the binding is dependent on cell-specific glycosylation in the neutrophils, as the milk form of the glycoprotein is a much poorer ligand. Binding to neutrophil glycoproteins is fucose dependent and mass spectrometry-based glycomic analysis of neutrophil and milk lactoferrin was used to establish a correlation between high affinity binding to SRCL and the presence of multiple, clustered terminal Lewis(x) groups on a heterogeneous mixture of branched glycans, some with poly N-acetyllactosamine extensions. The ability of SRCL to mediate uptake of neutrophil lactoferrin was confirmed using fibroblasts transfected with SRCL. The common presence of Lewis(x) groups in granule protein glycans can thus target granule proteins for clearance by SRCL. PCR and immunohistochemical analysis confirms that SRCL is widely expressed on endothelial cells and thus represents a distributed system which could scavenge released neutrophil glycoproteins both locally at sites of inflammation or systemically when they are released in the circulation.

    Additional information

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