Publications

Displaying 301 - 400 of 1375
  • Drijvers, L., & Holler, J. (2022). Face-to-face spatial orientation fine-tunes the brain for neurocognitive processing in conversation. iScience, 25(11): 105413. doi:10.1016/j.isci.2022.105413.

    Abstract

    We here demonstrate that face-to-face spatial orientation induces a special ‘social mode’ for neurocognitive processing during conversation, even in the absence of visibility. Participants conversed face-to-face, face-to-face but visually occluded, and back-to-back to tease apart effects caused by seeing visual communicative signals and by spatial orientation. Using dual-EEG, we found that 1) listeners’ brains engaged more strongly while conversing in face-to-face than back-to-back, irrespective of the visibility of communicative signals, 2) listeners attended to speech more strongly in a back-to-back compared to a face-to-face spatial orientation without visibility; visual signals further reduced the attention needed; 3) the brains of interlocutors were more in sync in a face-to-face compared to a back-to-back spatial orientation, even when they could not see each other; visual signals further enhanced this pattern. Communicating in face-to-face spatial orientation is thus sufficient to induce a special ‘social mode’ which fine-tunes the brain for neurocognitive processing in conversation.
  • Drolet, M., & Kempen, G. (1985). IPG: A cognitive approach to sentence generation. CCAI: The Journal for the Integrated Study of Artificial Intelligence, Cognitive Science and Applied Epistemology, 2, 37-61.
  • Dronkers, N. F., Wilkins, D. P., Van Valin Jr., R. D., Redfern, B. B., & Jaeger, J. J. (2004). Lesion analysis of the brain areas involved in language comprehension. Cognition, 92, 145-177. doi:10.1016/j.cognition.2003.11.002.

    Abstract

    The cortical regions of the brain traditionally associated with the comprehension of language are Wernicke's area and Broca's area. However, recent evidence suggests that other brain regions might also be involved in this complex process. This paper describes the opportunity to evaluate a large number of brain-injured patients to determine which lesioned brain areas might affect language comprehension. Sixty-four chronic left hemisphere stroke patients were evaluated on 11 subtests of the Curtiss–Yamada Comprehensive Language Evaluation – Receptive (CYCLE-R; Curtiss, S., & Yamada, J. (1988). Curtiss–Yamada Comprehensive Language Evaluation. Unpublished test, UCLA). Eight right hemisphere stroke patients and 15 neurologically normal older controls also participated. Patients were required to select a single line drawing from an array of three or four choices that best depicted the content of an auditorily-presented sentence. Patients' lesions obtained from structural neuroimaging were reconstructed onto templates and entered into a voxel-based lesion-symptom mapping (VLSM; Bates, E., Wilson, S., Saygin, A. P., Dick, F., Sereno, M., Knight, R. T., & Dronkers, N. F. (2003). Voxel-based lesion-symptom mapping. Nature Neuroscience, 6(5), 448–450.) analysis along with the behavioral data. VLSM is a brain–behavior mapping technique that evaluates the relationships between areas of injury and behavioral performance in all patients on a voxel-by-voxel basis, similar to the analysis of functional neuroimaging data. Results indicated that lesions to five left hemisphere brain regions affected performance on the CYCLE-R, including the posterior middle temporal gyrus and underlying white matter, the anterior superior temporal gyrus, the superior temporal sulcus and angular gyrus, mid-frontal cortex in Brodmann's area 46, and Brodmann's area 47 of the inferior frontal gyrus. Lesions to Broca's and Wernicke's areas were not found to significantly alter language comprehension on this particular measure. Further analysis suggested that the middle temporal gyrus may be more important for comprehension at the word level, while the other regions may play a greater role at the level of the sentence. These results are consistent with those seen in recent functional neuroimaging studies and offer complementary data in the effort to understand the brain areas underlying language comprehension.
  • Drozd, K. F. (1998). No as a determiner in child English: A summary of categorical evidence. In A. Sorace, C. Heycock, & R. Shillcock (Eds.), Proceedings of the Gala '97 Conference on Language Acquisition (pp. 34-39). Edinburgh, UK: Edinburgh University Press,.

    Abstract

    This paper summarizes the results of a descriptive syntactic category analysis of child English no which reveals that young children use and represent no as a determiner and negatives like no pen as NPs, contra standard analyses.
  • Drude, S. (2006). Documentação lingüística: O formato de anotação de textos. Cadernos de Estudos Lingüísticos, 35, 27-51.

    Abstract

    This paper presents the methods of language documentation as applied in the Awetí Language Documentation Project, one of the projects in the Documentation of Endangered Languages Programme (DOBES). It describes the steps of how a large digital corpus of annotated multi-media data is built. Special attention is devoted to the format of annotation of linguistic data. The Advanced Glossing format is presented and justified
  • Drude, S. (2002). Fala masculina e feminina em Awetí. In A. D. Rodrigues, & A. S. A. C. Cabral (Eds.), Línguas indígenas Brasileiras: Fonologia, gramática e história. (Atas do I Encontro Internacional do Grupo de Trabalho sobre Línguas Indígenas da ANPOLL). vol. 1 (pp. 177-190). Belém: EDUFPA.
  • Drude, S. (2006). On the position of the Awetí language in the Tupí family. In W. Dietrich, & H. Symeonidis (Eds.), Guarani y "Maweti-Tupi-Guarani. Estudios historicos y descriptivos sobre una familia lingüistica de America del Sur (pp. 11-45). Berlin: LIT Verlag.

    Abstract

    Conclusion In this study we have examined the evidence for the exact genetic position of the Awetí language in the large Tupí family, especially evidence for an internal classification of the larger branch of Tupí called “Mawetí-Guaraní” which comprises the Tupí-Guaraní family, Awetí and Sateré-Mawé. As it turns out, we did not find any clear example of an uncommon sound change which would have happened after the separation of the antecessor of one branch but before the split between the other two. There is some just probability that Awetí belongs somewhat closer to Tupí-Guaraní within Mawetí-Guaraní (configuration A in Table 1), but we did not find any conclusive evidence. All we have are some weak indications the majority of which, however, point in this direction: • a higher number of cognates found between Awetí and proto-Tupí-Guarani; • lexicostatistic results (number of cognates in a 100-item-word-list proposed by Swadesh); • loss of long vowels in Awetí and Tupí-Guaraní, but not in Sateré-Mawé; • some sound changes suggest that in the development to Awetí and to proto-Tupí-Guaraní velar segments changes to dental segments (cf. the discussion of the correspondence set j : t : w); • possibly some of the correspondence sets given in Table 20. We consider it to be too soon to conclude that there is a branch Awetí + Tupí-Guaraní of Mawetí-Guaraní, opposed to Sateré-Mawé, but if there is any grouping, this hypothesis is most promising. 29
  • Drude, S. (2004). Wörterbuchinterpretation: Integrative Lexikographie am Beispiel des Guaraní. Tübingen: Niemeyer.

    Abstract

    This study provides an answer to the question of how dictionaries should be read. For this purpose, articles taken from an outline for a Guaraní-German dictionary geared to established lexicographic practice are provided with standardized interpretations. Each article is systematically assigned a formal sentence making its meaning explicit both for content words (including polysemes) and functional words or affixes. Integrative Linguistics proves its theoretical and practical value both for the description of Guaraní (indigenous Indian language spoken in Paraguay, Argentina and Brazil) and in metalexicographic terms.
  • Duff, M. C., Morrow, E. L., Edwards, M., McCurdy, R., Clough, S., Patel, N., Walsh, K., & Covington, N. V. (2022). The value of patient registries to advance basic and translational research in the area of traumatic brain injury. Frontiers in Behavioral Neuroscience, 16: 846919. doi:10.3389/fnbeh.2022.846919.

    Abstract

    The number of individuals affected by traumatic brain injury (TBI) is growing globally. TBIs may cause a range of physical, cognitive, and psychiatric deficits that can negatively impact employment, academic attainment, community independence, and interpersonal relationships. Although there has been a significant decrease in the number of injury related deaths over the past several decades, there has been no corresponding reduction in injury related disability over the same time period. We propose that patient registries with large, representative samples and rich multidimensional and longitudinal data have tremendous value in advancing basic and translational research and in capturing, characterizing, and predicting individual differences in deficit profile and outcomes. Patient registries, together with recent theoretical and methodological advances in analytic approaches and neuroscience, provide powerful tools for brain injury research and for leveraging the heterogeneity that has traditionally been cited as a barrier inhibiting progress in treatment research and clinical practice. We report on our experiences, and challenges, in developing and maintaining our own patient registry. We conclude by pointing to some future opportunities for discovery that are afforded by a registry model.
  • Dulyan, L., Talozzi, L., Pacella, V., Corbetta, M., Forkel, S. J., & Thiebaut de Schotten, M. (2022). Longitudinal prediction of motor dysfunction after stroke: a disconnectome study. Brain Structure and Function, 227, 3085-3098. doi:10.1007/s00429-022-02589-5.

    Abstract

    Motricity is the most commonly affected ability after a stroke. While many clinical studies attempt to predict motor symptoms at different chronic time points after a stroke, longitudinal acute-to-chronic studies remain scarce. Taking advantage of recent advances in mapping brain disconnections, we predict motor outcomes in 62 patients assessed longitudinally two weeks, three months, and one year after their stroke. Results indicate that brain disconnection patterns accurately predict motor impairments. However, disconnection patterns leading to impairment differ between the three-time points and between left and right motor impairments. These results were cross-validated using resampling techniques. In sum, we demonstrated that while some neuroplasticity mechanisms exist changing the structure–function relationship, disconnection patterns prevail when predicting motor impairment at different time points after stroke.

    Additional information

    supplementary file
  • Düngen, D., Burkhardt, E., & El‐Gabbas, A. (2022). Fin whale (Balaenoptera physalus) distribution modeling on their Nordic and Barents Seas feeding grounds. Marine Mammal Science, 38(4), 1583-1608. doi:10.1111/mms.12943.

    Abstract

    Understanding cetacean distribution is essential for conservation planning and decision-making, particularly in regions subject to rapid environmental changes. Nevertheless, information on their spatiotemporal distribution is commonly limited, especially from remote areas. Species distribution models (SDMs) are powerful tools, relating species occurrences to environmental variables to predict the species' potential distribution. This study aims at using presence-only SDMs (MaxEnt) to identify suitable habitats for fin whales (Balaenoptera physalus) on their Nordic and Barents Seas feeding grounds. We used spatial-block cross-validation to tune MaxEnt parameters and evaluate model performance using spatially independent testing data. We considered spatial sampling bias correction using four methods. Important environmental variables were distance to shore and sea ice edge, variability of sea surface temperature and sea surface salinity, and depth. Suitable fin whale habitats were predicted along the west coast of Svalbard, between Svalbard and the eastern Norwegian Sea, coastal areas off Iceland and southern East Greenland, and along the Knipovich Ridge to Jan Mayen. Results support that presence-only SDMs are effective tools to predict cetacean habitat suitability, particularly in remote areas like the Arctic Ocean. SDMs constitute a cost-effective method for targeting future surveys and identifying top priority sites for conservation measures.

    Additional information

    supporting information
  • Dunn, M., Reesink, G., & Terrill, A. (2002). The East Papuan languages: A preliminary typological appraisal. Oceanic Linguistics, 41(1), 28-62.

    Abstract

    This paper examines the Papuan languages of Island Melanesia, with a view to considering their typological similarities and differences. The East Papuan languages are thought to be the descendants of the languages spoken by the original inhabitants of Island Melanesia, who arrived in the area up to 50,000 years ago. The Oceanic Austronesian languages are thought to have come into the area with the Lapita peoples 3,500 years ago. With this historical backdrop in view, our paper seeks to investigate the linguistic relationships between the scattered Papuan languages of Island Melanesia. To do this, we survey various structural features, including syntactic patterns such as constituent order in clauses and noun phrases and other features of clause structure, paradigmatic structures of pronouns, and the structure of verbal morphology. In particular, we seek to discern similarities between the languages that might call for closer investigation, with a view to establishing genetic relatedness between some or all of the languages. In addition, in examining structural relationships between languages, we aim to discover whether it is possible to distinguish between original Papuan elements and diffused Austronesian elements of these languages. As this is a vast task, our paper aims merely to lay the groundwork for investigation into these and related questions.
  • Dunn, M. (2006). [Review of the book Comparative Chukotko-Kamchatkan dictionary by Michael Fortescue]. Anthropological Linguistics, 48(3), 296-298.
  • Dunn, M., & Terrill, A. (2004). Lexical comparison between Papuan languages: Inland bird and tree species. In A. Majid (Ed.), Field Manual Volume 9 (pp. 65-69). Nijmegen: Max Planck Institute for Psycholinguistics. doi:10.17617/2.492942.

    Abstract

    The Pioneers project seeks to uncover relationships between the Papuan languages of Island Melanesia. One basic way to uncover linguistic relationships, either contact or genetic, is through lexical comparison. We have seen very few shared words between our Papuan languages and any other languages, either Oceanic or Papuan, but most of the words which are shared are shared because they are commonly borrowed from Oceanic languages. This task is aimed at enabling fieldworkers to collect terms for inland bird and tree species. In the past it is has proved very difficult for non-experts to identify plant and bird species, so the task consists of a booklet of colour pictures of some of the more common species, with information on the range and habits of each species, as well as some information on their cultural uses, which should enable better identification. It is intended that fieldworkers will show this book to consultants and use it as an elicitation aid.
  • Edlinger, G., Bastiaansen, M. C. M., Brunia, C., Neuper, C., & Pfurtscheller, G. (1999). Cortical oscillatory activity assessed by combined EEG and MEG recordings and high resolution ERD methods. Biomedizinische Technik, 44(2), 131-134.
  • Eekhof, L. S., Van Krieken, K., & Willems, R. M. (2022). Reading about minds: The social-cognitive potential of narratives. Psychonomic Bulletin & Review, 29, 1703-1718. doi:10.3758/s13423-022-02079-z.

    Abstract

    It is often argued that narratives improve social cognition, either by appealing to social-cognitive abilities as we engage with the story world and its characters, or by conveying social knowledge. Empirical studies have found support for both a correlational and a causal link between exposure to (literary, fictional) narratives and social cognition. However, a series of failed replications has cast doubt on the robustness of these claims. Here, we review the existing empirical literature and identify open questions and challenges. An important conclusion of the review is that previous research has given too little consideration to the diversity of narratives, readers, and social-cognitive processes involved in the social-cognitive potential of narratives. We therefore establish a research agenda, proposing that future research should focus on (1) the specific text characteristics that drive the social-cognitive potential of narratives, (2) the individual differences between readers with respect to their sensitivity to this potential, and (3) the various aspects of social cognition that are potentially affected by reading narratives. Our recommendations can guide the design of future studies that will help us understand how, for whom, and in what respect exposure to narratives can advantage social cognition.
  • Ehrich, V., & Levelt, W. J. M. (Eds.). (1982). Max-Planck-Institute for Psycholinguistics: Annual Report Nr.3 1982. Nijmegen: MPI for Psycholinguistics.
  • Eibl-Eibesfeldt, I., Senft, B., & Senft, G. (1998). Trobriander (Ost-Neuguinea, Trobriand Inseln, Kaile'una) Fadenspiele 'ninikula'. In Ethnologie - Humanethologische Begleitpublikationen von I. Eibl-Eibesfeldt und Mitarbeitern. Sammelband I, 1985-1987. Göttingen: Institut für den Wissenschaftlichen Film.
  • Eijk, L., Rasenberg, M., Arnese, F., Blokpoel, M., Dingemanse, M., Doeller, C. F., Ernestus, M., Holler, J., Milivojevic, B., Özyürek, A., Pouw, W., Van Rooij, I., Schriefers, H., Toni, I., Trujillo, J. P., & Bögels, S. (2022). The CABB dataset: A multimodal corpus of communicative interactions for behavioural and neural analyses. NeuroImage, 264: 119734. doi:10.1016/j.neuroimage.2022.119734.

    Abstract

    We present a dataset of behavioural and fMRI observations acquired in the context of humans involved in multimodal referential communication. The dataset contains audio/video and motion-tracking recordings of face-to-face, task-based communicative interactions in Dutch, as well as behavioural and neural correlates of participants’ representations of dialogue referents. Seventy-one pairs of unacquainted participants performed two interleaved interactional tasks in which they described and located 16 novel geometrical objects (i.e., Fribbles) yielding spontaneous interactions of about one hour. We share high-quality video (from three cameras), audio (from head-mounted microphones), and motion-tracking (Kinect) data, as well as speech transcripts of the interactions. Before and after engaging in the face-to-face communicative interactions, participants’ individual representations of the 16 Fribbles were estimated. Behaviourally, participants provided a written description (one to three words) for each Fribble and positioned them along 29 independent conceptual dimensions (e.g., rounded, human, audible). Neurally, fMRI signal evoked by each Fribble was measured during a one-back working-memory task. To enable functional hyperalignment across participants, the dataset also includes fMRI measurements obtained during visual presentation of eight animated movies (35 minutes total). We present analyses for the various types of data demonstrating their quality and consistency with earlier research. Besides high-resolution multimodal interactional data, this dataset includes different correlates of communicative referents, obtained before and after face-to-face dialogue, allowing for novel investigations into the relation between communicative behaviours and the representational space shared by communicators. This unique combination of data can be used for research in neuroscience, psychology, linguistics, and beyond.
  • Eisenbeiss, S., McGregor, B., & Schmidt, C. M. (1999). Story book stimulus for the elicitation of external possessor constructions and dative constructions ('the circle of dirt'). In D. Wilkins (Ed.), Manual for the 1999 Field Season (pp. 140-144). Nijmegen: Max Planck Institute for Psycholinguistics. doi:10.17617/2.3002750.

    Abstract

    How involved in an event is a person that possesses one of the event participants? Some languages can treat such “external possessors” as very closely involved, even marking them on the verb along with core roles such as subject and object. Other languages only allow possessors to be expressed as non-core participants. This task explores possibilities for the encoding of possessors and other related roles such as beneficiaries. The materials consist of a sequence of thirty drawings designed to elicit target construction types.

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    1999_Story_book_booklet.pdf
  • Eising, E., Mirza-Schreiber, N., De Zeeuw, E. L., Wang, C. A., Truong, D. T., Allegrini, A. G., Shapland, C. Y., Zhu, G., Wigg, K. G., Gerritse, M., Molz, B., Alagöz, G., Gialluisi, A., Abbondanza, F., Rimfeld, K., Van Donkelaar, M. M. J., Liao, Z., Jansen, P. R., Andlauer, T. F. M., Bates, T. C. and 70 moreEising, E., Mirza-Schreiber, N., De Zeeuw, E. L., Wang, C. A., Truong, D. T., Allegrini, A. G., Shapland, C. Y., Zhu, G., Wigg, K. G., Gerritse, M., Molz, B., Alagöz, G., Gialluisi, A., Abbondanza, F., Rimfeld, K., Van Donkelaar, M. M. J., Liao, Z., Jansen, P. R., Andlauer, T. F. M., Bates, T. C., Bernard, M., Blokland, K., Børglum, A. D., Bourgeron, T., Brandeis, D., Ceroni, F., Dale, P. S., Landerl, K., Lyytinen, H., De Jong, P. F., DeFries, J. C., Demontis, D., Feng, Y., Gordon, S. D., Guger, S. L., Hayiou-Thomas, M. E., Hernández-Cabrera, J. A., Hottenga, J.-J., Hulme, C., Kerr, E. N., Koomar, T., Lovett, M. W., Martin, N. G., Martinelli, A., Maurer, U., Michaelson, J. J., Moll, K., Monaco, A. P., Morgan, A. T., Nöthen, M. M., Pausova, Z., Pennell, C. E., Pennington, B. F., Price, K. M., Rajagopal, V. M., Ramus, F., Richer, L., Simpson, N. H., Smith, S., Snowling, M. J., Stein, J., Strug, L. J., Talcott, J. B., Tiemeier, H., Van de Schroeff, M. M. P., Verhoef, E., Watkins, K. E., Wilkinson, M., Wright, M. J., Barr, C. L., Boomsma, D. I., Carreiras, M., Franken, M.-C.-J., Gruen, J. R., Luciano, M., Müller-Myhsok, B., Newbury, D. F., Olson, R. K., Paracchini, S., Paus, T., Plomin, R., Schulte-Körne, G., Reilly, S., Tomblin, J. B., Van Bergen, E., Whitehouse, A. J., Willcutt, E. G., St Pourcain, B., Francks, C., & Fisher, S. E. (2022). Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people. Proceedings of the National Academy of Sciences of the United States of America, 119(35): e2202764119. doi:10.1073/pnas.2202764119.

    Abstract

    The use of spoken and written language is a fundamental human capacity. Individual differences in reading- and language-related skills are influenced by genetic variation, with twin-based heritability estimates of 30 to 80% depending on the trait. The genetic architecture is complex, heterogeneous, and multifactorial, but investigations of contributions of single-nucleotide polymorphisms (SNPs) were thus far underpowered. We present a multicohort genome-wide association study (GWAS) of five traits assessed individually using psychometric measures (word reading, nonword reading, spelling, phoneme awareness, and nonword repetition) in samples of 13,633 to 33,959 participants aged 5 to 26 y. We identified genome-wide significant association with word reading (rs11208009, P = 1.098 × 10−8) at a locus that has not been associated with intelligence or educational attainment. All five reading-/language-related traits showed robust SNP heritability, accounting for 13 to 26% of trait variability. Genomic structural equation modeling revealed a shared genetic factor explaining most of the variation in word/nonword reading, spelling, and phoneme awareness, which only partially overlapped with genetic variation contributing to nonword repetition, intelligence, and educational attainment. A multivariate GWAS of word/nonword reading, spelling, and phoneme awareness maximized power for follow-up investigation. Genetic correlation analysis with neuroimaging traits identified an association with the surface area of the banks of the left superior temporal sulcus, a brain region linked to the processing of spoken and written language. Heritability was enriched for genomic elements regulating gene expression in the fetal brain and in chromosomal regions that are depleted of Neanderthal variants. Together, these results provide avenues for deciphering the biological underpinnings of uniquely human traits.
  • Eisner, F., & McQueen, J. M. (2006). Perceptual learning in speech: Stability over time (L). Journal of the Acoustical Society of America, 119(4), 1950-1953. doi:10.1121/1.2178721.

    Abstract

    Perceptual representations of phonemes are flexible and adapt rapidly to accommodate idiosyncratic articulation in the speech of a particular talker. This letter addresses whether such adjustments remain stable over time and under exposure to other talkers. During exposure to a story, listeners learned to interpret an ambiguous sound as [f] or [s]. Perceptual adjustments measured after 12 h were as robust as those measured immediately after learning. Equivalent effects were found when listeners heard speech from other talkers in the 12 h interval, and when they had the opportunity to consolidate learning during sleep.
  • Eisner, F. (2006). Lexically-guided perceptual learning in speech processing. PhD Thesis, Radboud University Nijmegen, Nijmegen. doi:10.17617/2.57407.

    Abstract

    During listening to spoken language, the perceptual system needs to adapt frequently to changes in talkers, and thus to considerable interindividual variability in the articulation of a given speech sound. This thesis investigated a learning process which allows listeners to use stored lexical representations to modify the interpretation of a speech sound when a talker's articulation of that sound is consistently unclear or ambiguous. The questions that were addressed in this research concerned the robustness of such perceptual learning, a potential role for sleep, and whether learning is specific to the speech of one talker or, alternatively, generalises to other talkers. A further study aimed to identify the underlying functional neuroanatomy by using magnetic resonance imaging methods. The picture that emerged for lexically-guided perceptual learning is that learning occurs very rapidly, is highly specific, and remains remarkably robust both over time and under exposure to speech from other talkers.

    Additional information

    full text via Radboud Repository
  • Embick, D., Creemers, A., & Goodwin Davies, A. J. (2022). Morphology and the mental lexicon: Three questions about decomposition. In A. Papafragou, J. C. Trueswell, & L. R. Gleitman (Eds.), The Oxford Handbook of the Mental Lexicon (pp. 77-97). Oxford: Oxford University Press.

    Abstract

    The most basic question for the study of morphology and the mental lexicon is whether or not words are _decomposed_: informally, this is the question of whether words are represented (and processed) in terms of some kind of smaller units; that is, broken down into constituent parts. Formally, what it means to represent or process a word as decomposed or not turns out to be quite complex. One of the basic lines of division in the field classifies approaches according to whether they decompose all “complex” words (“Full Decomposition”), or none (“Full Listing”), or some but not all, according to some criterion (typical of “Dual-Route” models). However, if we are correct, there are at least three senses in which an approach might be said to be decompositional or not, with the result that ongoing discussions of what appears to be a single large issue might not always be addressing the same distinction. Put slightly differently, there is no single question of decomposition. Instead, there are independent but related questions that define current research. Our goal here is to identify this finer-grained set of questions, as they are the ones that should assume a central place in the study of morphological and lexical representation.
  • Enard, W., Przeworski, M., Fisher, S. E., Lai, C. S. L., Wiebe, V., Kitano, T., Pääbo, S., & Monaco, A. P. (2002). Molecular evolution of FOXP2, a gene involved in speech and language [Letters to Nature]. Nature, 418, 869-872. doi:10.1038/nature01025.

    Abstract

    Language is a uniquely human trait likely to have been a prerequisite for the development of human culture. The ability to develop articulate speech relies on capabilities, such as fine control of the larynx and mouth, that are absent in chimpanzees and other great apes. FOXP2 is the first gene relevant to the human ability to develop language. A point mutation in FOXP2 co-segregates with a disorder in a family in which half of the members have severe articulation difficulties accompanied by linguistic and grammatical impairment. This gene is disrupted by translocation in an unrelated individual who has a similar disorder. Thus, two functional copies of FOXP2 seem to be required for acquisition of normal spoken language. We sequenced the complementary DNAs that encode the FOXP2 protein in the chimpanzee, gorilla, orang-utan, rhesus macaque and mouse, and compared them with the human cDNA. We also investigated intraspecific variation of the human FOXP2 gene. Here we show that human FOXP2 contains changes in amino-acid coding and a pattern of nucleotide polymorphism, which strongly suggest that this gene has been the target of selection during recent human evolution.
  • Enfield, N. J. (2002). Semantic analysis of body parts in emotion terminology: Avoiding the exoticisms of 'obstinate monosemy' and 'online extension'. Pragmatics and Cognition, 10(1), 85-106. doi:10.1075/pc.10.12.05enf.

    Abstract

    Investigation of the emotions entails reference to words and expressions conventionally used for the description of emotion experience. Important methodological issues arise for emotion researchers, and the issues are of similarly central concern in linguistic semantics more generally. I argue that superficial and/or inconsistent description of linguistic meaning can have seriously misleading results. This paper is firstly a critique of standards in emotion research for its tendency to underrate and ill-understand linguistic semantics. It is secondly a critique of standards in some approaches to linguistic semantics itself. Two major problems occur. The first is failure to distinguish between conceptually distinct meanings of single words, neglecting the well-established fact that a single phonological string can signify more than one conceptual category (i.e., that words can be polysemous). The second error involves failure to distinguish between two kinds of secondary uses of words: (1) those which are truly active “online” extensions, and (2) those which are conventionalised secondary meanings and not active (qua “extensions”) at all. These semantic considerations are crucial to conclusions one may draw about cognition and conceptualisation based on linguistic evidence.
  • Enfield, N. J. (2002). Semantics and combinatorics of 'sit', 'stand', and 'lie' in Lao. In J. Newman (Ed.), The linguistics of sitting, standing, and lying (pp. 25-41). Amsterdam: Benjamins.
  • Enfield, N. J. (2006). Social consequences of common ground. In N. J. Enfield, & S. C. Levinson (Eds.), Roots of human sociality: Culture, cognition and interaction (pp. 399-430). Oxford: Berg.
  • Enfield, N. J., & Levinson, S. C. (Eds.). (2006). Roots of human sociality: Culture, cognition and interaction. Oxford: Berg.
  • Enfield, N. J. (2002). Parallel innovation and 'coincidence' in linguistic areas: On a bi-clausal extent/result constructions of mainland Southeast Asia. In P. Chew (Ed.), Proceedings of the 28th meeting of the Berkeley Linguistics Society. Special session on Tibeto-Burman and Southeast Asian linguistics (pp. 121-128). Berkeley: Berkeley Linguistics Society.
  • Enfield, N. J. (2004). On linear segmentation and combinatorics in co-speech gesture: A symmetry-dominance construction in Lao fish trap descriptions. Semiotica, 149(1/4), 57-123. doi:10.1515/semi.2004.038.
  • Enfield, N. J. (2002). Body 2002. In S. Kita (Ed.), 2002 Supplement (version 3) for the “Manual” for the field season 2001 (pp. 19-32). Nijmegen: Max Planck Institute for Psycholinguistics.
  • Enfield, N. J., Levinson, S. C., De Ruiter, J. P., & Stivers, T. (2004). Building a corpus of multimodal interaction in your field site. In A. Majid (Ed.), Field Manual Volume 9 (pp. 32-36). Nijmegen: Max Planck Institute for Psycholinguistics. doi:10.17617/2.506951.

    Abstract

    This Field Manual entry has been superceded by the 2007 version:
    https://doi.org/10.17617/2.468728

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  • Enfield, N. J. (2002). “Fish trap” task. In S. Kita (Ed.), 2002 Supplement (version 3) for the “Manual” for the field season 2001 (pp. 61). Nijmegen: Max Planck Institute for Psycholinguistics.
  • Enfield, N. J., Majid, A., & Van Staden, M. (2006). Cross-linguistic categorisation of the body: Introduction. Language Sciences, 28(2-3), 137-147. doi:10.1016/j.langsci.2005.11.001.

    Abstract

    The domain of the human body is an ideal focus for semantic typology, since the body is a physical universal and all languages have terms referring to its parts. Previous research on body part terms has depended on secondary sources (e.g. dictionaries), and has lacked sufficient detail or clarity for a thorough understanding of these terms’ semantics. The present special issue is the outcome of a collaborative project aimed at improving approaches to investigating the semantics of body part terms, by developing materials to elicit information that provides for cross-linguistic comparison. The articles in this volume are original fieldwork-based descriptions of terminology for parts of the body in ten languages. Also included are an elicitation guide and experimental protocol used in gathering data. The contributions provide inventories of body part terms in each language, with analysis of both intensional and extensional aspects of meaning, differences in morphological complexity, semantic relations among terms, and discussion of partonomic structure within the domain.
  • Enfield, N. J. (2002). Cultural logic and syntactic productivity: Associated posture constructions in Lao. In N. Enfield (Ed.), Ethnosyntax: Explorations in culture and grammar (pp. 231-258). Oxford: Oxford University Press.
  • Enfield, N. J. (2006). Elicitation guide on parts of the body. Language Sciences, 28(2-3), 148-157. doi:10.1016/j.langsci.2005.11.003.

    Abstract

    This document is intended for use as an elicitation guide for the field linguist consulting with native speakers in collecting terms for parts of the body, and in the exploration of their semantics.
  • Enfield, N. J. (2002). Ethnosyntax: Introduction. In N. Enfield (Ed.), Ethnosyntax: Explorations in culture and grammar (pp. 1-30). Oxford: Oxford University Press.
  • Enfield, N. J. (2002). Combinatoric properties of natural semantic metalanguage expressions in Lao. In C. Goddard, & A. Wierzbicka (Eds.), Meaning and universal grammar: Theory and empirical findings (pp. 145-256). Amsterdam: John Benjamins.
  • Enfield, N. J. (2004). Adjectives in Lao. In R. M. W. Dixon, & A. Y. Aikhenvald (Eds.), Adjective classes: A cross-linguistic typology (pp. 323-347). Oxford: Oxford University Press.
  • Enfield, N. J. (2004). Areal grammaticalisation of postverbal 'acquire' in mainland Southeast Asia. In S. Burusphat (Ed.), Proceedings of the 11th Southeast Asia Linguistics Society Meeting (pp. 275-296). Arizona State University: Tempe.
  • Enfield, N. J. (2006). [Review of the book A grammar of Semelai by Nicole Kruspe]. Linguistic Typology, 10(3), 452-455. doi:10.1515/LINGTY.2006.014.
  • Enfield, N. J. (2002). Functions of 'give' and 'take' in Lao complex predicates. In R. S. Bauer (Ed.), Collected papers on Southeast Asian and Pacific languages (pp. 13-36). Canberra: Pacific Linguistics.
  • Enfield, N. J. (2002). How to define 'Lao', 'Thai', and 'Isan' language? A view from linguistic science. Tai Culture, 7(1), 62-67.

    Abstract

    This article argues that it is not possible to establish distinctions between 'Lao', 'Thai', and 'Isan' as seperate languages or dialects by appealing to objective criteria. 'Lao', 'Thai', and 'Isan' are conceived linguistics varieties, and the ground-level reality reveals a great deal of variation, much of it not coinciding with the geographical boundaries of the 'Laos', 'Isan', and 'non-Isan Thailand' areas. Those who promote 'Lao', 'Thai', and/or 'Isan' as distinct linguistic varieties have subjective (e.g. political and/or sentimental) reasons for doing so. Objective linguistic criteria are not sufficient
  • Enfield, N. J. (2006). Heterosemy and the grammar-lexicon trade-off. In F. Ameka, A. Dench, & N. Evans (Eds.), Catching Language (pp. 297-320). Berlin: Mouton de Gruyter.
  • Enfield, N. J., & Levinson, S. C. (2006). Introduction: Human sociality as a new interdisciplinary field. In N. J. Enfield, & S. C. Levinson (Eds.), Roots of human sociality: Culture, cognition and interaction (pp. 1-35). Oxford: Berg.
  • Enfield, N. J., & Wierzbicka, A. (2002). Introduction: The body in description of emotion. Pragmatics and Cognition, 10(1), 1-24. doi:10.1075/pc.10.12.02enf.

    Abstract

    Anthropologists and linguists have long been aware that the body is explicitly referred to in conventional description of emotion in languages around the world. There is abundant linguistic data showing expression of emotions in terms of their imagined ‘locus’ in the physical body. The most important methodological issue in the study of emotions is language, for the ways people talk give us access to ‘folk descriptions’ of the emotions. ‘Technical terminology’, whether based on English or otherwise, is not excluded from this ‘folk’ status. It may appear to be safely ‘scientific’ and thus culturally neutral, but in fact it is not: technical English is a variety of English and reflects, to some extent, culture-specific ways of thinking (and categorising) associated with the English language. People — as researchers studying other people, or as people in real-life social association — cannot directly access the emotional experience of others, and language is the usual mode of ‘packaging’ one’s experience so it may be accessible to others. Careful description of linguistic data from as broad as possible a cross-linguistic base is thus an important part of emotion research. All people experience biological events and processes associated with certain thoughts (or, as psychologists say, ‘appraisals’), but there is more to ‘emotion’ than just these physiological phenomena. Speakers of some languages talk about their emotional experiences as if they are located in some internal organ such as ‘the liver’, yet they cannot localise feeling in this physical organ. This phenomenon needs to be understood better, and one of the problems is finding a method of comparison that allows us to compare descriptions from different languages which show apparently great formal and semantic variation. Some simple concepts including feel and body are universal or near-universal, and as such are good candidates for terms of description which may help to eradicate confusion and exoticism from cross-linguistic comparison and semantic typology. Semantic analysis reveals great variation in concepts of emotion across languages and cultures — but such analysis requires a sound and well-founded methodology. While leaving room for different approaches to the task, we suggest that such a methodology can be based on empirically established linguistic universal (or near-universal) concepts, and on ‘cognitive scenarios’ articulated in terms of these concepts. Also, we warn against the danger of exoticism involved in taking all body part references ‘literally’. Above all, we argue that what is needed is a combination of empirical cross-linguistic investigations and a theoretical and methodological awareness, recognising the impossibility of exploring other people’s emotions without keeping language in focus: both as an object and as a tool of study.
  • Enfield, N. J. (2006). Languages as historical documents: The endangered archive in Laos. South East Asia Research, 14(3), 471-488.

    Abstract

    Abstract: This paper reviews current discussion of the issue of just what is lost when a language dies. Special reference is made to the current situation in Laos, a country renowned for its considerable cultural and linguistic diversity. It focuses on the historical, anthropological and ecological knowledge that a language can encode, and the social and cultural consequences of the loss of such traditional knowledge when a language is no longer passed on. Finally, the article points out the paucity of studies and obstacles to field research on minority languages in Laos, which seriously hamper their documentation.
  • Enfield, N. J. (2006). Lao body part terms. Language Sciences, 28(2-3), 181-200. doi:10.1016/j.langsci.2005.11.011.

    Abstract

    This article presents a description of nominal expressions for parts of the human body conventionalised in Lao, a Southwestern Tai language spoken in Laos, Northeast Thailand, and Northeast Cambodia. An inventory of around 170 Lao expressions is listed, with commentary where some notability is determined, usually based on explicit comparison to the metalanguage, English. Notes on aspects of the grammatical and semantic structure of the set of body part terms are provided, including a discussion of semantic relations pertaining among members of the set of body part terms. I conclude that the semantic relations which pertain between terms for different parts of the body not only include part/whole relations, but also relations of location, connectedness, and general association. Calling the whole system a ‘partonomy’ attributes greater centrality to the part/whole relation than is warranted.
  • Enfield, N. J. (2006). Laos - language situation. In K. Brown (Ed.), Encyclopedia of Language and Linguistics (vol. 6) (pp. 698-700). Amsterdam: Elsevier.

    Abstract

    Laos features a high level of linguistic diversity, with more than 70 languages from four different major language families (Tai, Mon-Khmer, Hmong-Mien, Tibeto-Burman). Mon-Khmer languages were spoken in Laos earlier than other languages, with incoming migrations by Tai speakers (c. 2000 years ago) and Hmong-Mien speakers (c. 200 years ago). There is widespread language contact and multilingualism in upland minority communities, while lowland-dwelling Lao speakers are largely monolingual. Lao is the official national language. Most minority languages are endangered, with a few exceptions (notably Hmong and Kmhmu). There has been relatively little linguistic research on languages of Laos, due to problems of both infrastructure and administration.
  • Enfield, N. J. (2004). Nominal classification in Lao: A sketch. Sprachtypologie und Universalienforschung, 57(2/3), 117-143.
  • Enfield, N., Kelly, A., & Sprenger, S. (2004). Max-Planck-Institute for Psycholinguistics: Annual Report 2004. Nijmegen: MPI for Psycholinguistics.
  • Enfield, N. J. (1999). Lao as a national language. In G. Evans (Ed.), Laos: Culture and society (pp. 258-290). Chiang Mai: Silkworm Books.
  • Enfield, N. J. (1999). On the indispensability of semantics: Defining the ‘vacuous’. Rask: internationalt tidsskrift for sprog og kommunikation, 9/10, 285-304.
  • Enfield, N. J. (2004). Repair sequences in interaction. In A. Majid (Ed.), Field Manual Volume 9 (pp. 48-52). Nijmegen: Max Planck Institute for Psycholinguistics. doi:10.17617/2.492945.

    Abstract

    This Field Manual entry has been superceded by the 2007 version: https://doi.org/10.17617/2.468724

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  • Ernestus, M. (2006). Statistically gradient generalizations for contrastive phonological features. The Linguistic Review, 23(3), 217-233. doi:10.1515/TLR.2006.008.

    Abstract

    In mainstream phonology, contrastive properties, like stem-final voicing, are simply listed in the lexicon. This article reviews experimental evidence that such contrastive properties may be predictable to some degree and that the relevant statistically gradient generalizations form an inherent part of the grammar. The evidence comes from the underlying voice specification of stem-final obstruents in Dutch. Contrary to received wisdom, this voice specification is partly predictable from the obstruent’s manner and place of articulation and from the phonological properties of the preceding segments. The degree of predictability, which depends on the exact contents of the lexicon, directs speakers’ guesses of underlying voice specifications. Moreover, existing words that disobey the generalizations are disadvantaged by being recognized and produced more slowly and less accurately, also under natural conditions.We discuss how these observations can be accounted for in two types of different approaches to grammar, Stochastic Optimality Theory and exemplar-based modeling.
  • Ernestus, M., Baayen, R. H., & Schreuder, R. (2002). The recognition of reduced word forms. Brain and Language, 81(1-3), 162-173. doi:10.1006/brln.2001.2514.

    Abstract

    This article addresses the recognition of reduced word forms, which are frequent in casual speech. We describe two experiments on Dutch showing that listeners only recognize highly reduced forms well when these forms are presented in their full context and that the probability that a listener recognizes a word form in limited context is strongly correlated with the degree of reduction of the form. Moreover, we show that the effect of degree of reduction can only partly be interpreted as the effect of the intelligibility of the acoustic signal, which is negatively correlated with degree of reduction. We discuss the consequences of our findings for models of spoken word recognition and especially for the role that storage plays in these models.
  • Ernestus, M., & Baayen, R. H. (2006). The functionality of incomplete neutralization in Dutch: The case of past-tense formation. In L. Goldstein, D. Whalen, & C. Best (Eds.), Laboratory Phonology 8 (pp. 27-49). Berlin: Mouton de Gruyter.
  • Ernestus, M., & Mak, W. M. (2004). Distinctive phonological features differ in relevance for both spoken and written word recognition. Brain and Language, 90(1-3), 378-392. doi:10.1016/S0093-934X(03)00449-8.

    Abstract

    This paper discusses four experiments on Dutch which show that distinctive phonological features differ in their relevance for word recognition. The relevance of a feature for word recognition depends on its phonological stability, that is, the extent to which that feature is generally realized in accordance with its lexical specification in the relevant word position. If one feature value is uninformative, all values of that feature are less relevant for word recognition, with the least informative feature being the least relevant. Features differ in their relevance both in spoken and written word recognition, though the differences are more pronounced in auditory lexical decision than in self-paced reading.
  • Ernestus, M., & Baayen, R. H. (2004). Analogical effects in regular past tense production in Dutch. Linguistics, 42(5), 873-903. doi:10.1515/ling.2004.031.

    Abstract

    This study addresses the question to what extent the production of regular past tense forms in Dutch is a¤ected by analogical processes. We report an experiment in which native speakers of Dutch listened to existing regular verbs over headphones, and had to indicate which of the past tense allomorphs, te or de, was appropriate for these verbs. According to generative analyses, the choice between the two su‰xes is completely regular and governed by the underlying [voice]-specification of the stem-final segment. In this approach, no analogical e¤ects are expected. In connectionist and analogical approaches, by contrast, the phonological similarity structure in the lexicon is expected to a¤ect lexical processing. Our experimental results support the latter approach: all participants created more nonstandard past tense forms, produced more inconsistency errors, and responded more slowly for verbs with stronger analogical support for the nonstandard form.
  • Ernestus, M., Lahey, M., Verhees, F., & Baayen, R. H. (2006). Lexical frequency and voice assimilation. Journal of the Acoustical Society of America, 120(2), 1040-1051. doi:10.1121/1.2211548.

    Abstract

    Acoustic duration and degree of vowel reduction are known to correlate with a word’s frequency of occurrence. The present study broadens the research on the role of frequency in speech production to voice assimilation. The test case was regressive voice assimilation in Dutch. Clusters from a corpus of read speech were more often perceived as unassimilated in lower-frequency words and as either completely voiced regressive assimilation or, unexpectedly, as completely voiceless progressive assimilation in higher-frequency words. Frequency did not predict the voice classifications over and above important acoustic cues to voicing, suggesting that the frequency effects on the classifications were carried exclusively by the acoustic signal. The duration of the cluster and the period of glottal vibration during the cluster decreased while the duration of the release noises increased with frequency. This indicates that speakers reduce articulatory effort for higher-frequency words, with some acoustic cues signaling more voicing and others less voicing. A higher frequency leads not only to acoustic reduction but also to more assimilation.
  • Ernestus, M., & Baayen, R. H. (2004). Kuchde, tobte, en turfte: Lekkage in 't kofschip. Onze Taal, 73(12), 360-361.
  • Essegbey, J. (1999). Inherent complement verbs revisited: Towards an understanding of argument structure in Ewe. PhD Thesis, Radboud University Nijmegen, Nijmegen. doi:10.17617/2.2057668.
  • Evans, N., Levinson, S. C., Enfield, N. J., Gaby, A., & Majid, A. (2004). Reciprocal constructions and situation type. In A. Majid (Ed.), Field Manual Volume 9 (pp. 25-30). Nijmegen: Max Planck Institute for Psycholinguistics. doi:10.17617/2.506955.
  • Faller, M. (2002). Remarks on evidential hierarchies. In D. I. Beaver, L. D. C. Martinez, B. Z. Clark., & S. Kaufmann (Eds.), The construction of meaning (pp. 89-111). Stanford: CSLI Publications.
  • 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.
  • Ferrari, A., Richter, D., & De Lange, F. (2022). Updating contextual sensory expectations for adaptive behaviour. The Journal of Neuroscience, 42(47), 8855-8869. doi:10.1523/JNEUROSCI.1107-22.2022.

    Abstract

    The brain has the extraordinary capacity to construct predictive models of the environment by internalizing statistical regularities in the sensory inputs. The resulting sensory expectations shape how we perceive and react to the world; at the neural level, this relates to decreased neural responses to expected than unexpected stimuli (‘expectation suppression’). Crucially, expectations may need revision as context changes. However, existing research has often neglected this issue. Further, it is unclear whether contextual revisions apply selectively to expectations relevant to the task at hand, hence serving adaptive behaviour. The present fMRI study examined how contextual visual expectations spread throughout the cortical hierarchy as participants update their beliefs. We created a volatile environment with two state spaces presented over separate contexts and controlled by an independent contextualizing signal. Participants attended a training session before scanning to learn contextual temporal associations among pairs of object images. The fMRI experiment then tested for the emergence of contextual expectation suppression in two separate tasks, respectively with task-relevant and task-irrelevant expectations. Behavioural and neural effects of contextual expectation emerged progressively across the cortical hierarchy as participants attuned themselves to the context: expectation suppression appeared first in the insula, inferior frontal gyrus and posterior parietal cortex, followed by the ventral visual stream, up to early visual cortex. This applied selectively to task-relevant expectations. Taken together, the present results suggest that an insular and frontoparietal executive control network may guide the flexible deployment of contextual sensory expectations for adaptive behaviour in our complex and dynamic world.
  • 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., & 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. (2006). Genes, cognition and dyslexia: Learning to read the genome. Trends in Cognitive Sciences, 10, 250-257. doi:10.1016/j.tics.2006.04.003.

    Abstract

    Studies of dyslexia provide vital insights into the cognitive architecture underpinning both disordered and normal reading. It is well established that inherited factors contribute to dyslexia susceptibility, but only very recently has evidence emerged to implicate specific candidate genes. In this article, we provide an accessible overview of four prominent examples--DYX1C1, KIAA0319, DCDC2 and ROBO1--and discuss their relevance for cognition. In each case correlations have been found between genetic variation and reading impairments, but precise risk variants remain elusive. Although none of these genes is specific to reading-related neuronal circuits, or even to the human brain, they have intriguing roles in neuronal migration or connectivity. Dissection of cognitive mechanisms that subserve reading will ultimately depend on an integrated approach, uniting data from genetic investigations, behavioural studies and neuroimaging.
  • 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. (2006). How can animal studies help to uncover the roles of genes implicated in human speech and language disorders? In G. S. Fisch, & J. Flint (Eds.), Transgenic and knockout models of neuropsychiatric disorders (pp. 127-149). Totowa, NJ: Humana Press.

    Abstract

    The mysterious human propensity for acquiring speech and language has fascinated scientists for decades. A substantial body of evidence suggests that this capacity is rooted in aspects of neurodevelopment that are specified at the genomic level. Researchers have begun to identify genetic factors that increase susceptibility to developmental disorders of speech and language, thereby offering the first molecular entry points into neuronal mechanisms underlying human vocal communication. The identification of genetic variants influencing language acquisition facilitates the analysis of animal models in which the corresponding orthologs are disrupted. At face value, the situation raises aperplexing question: if speech and language are uniquely human, can any relevant insights be gained from investigations of gene function in other species? This chapter addresses the question using the example of FOXP2, a gene implicated in a severe monogenic speech and language disorder. FOXP2 encodes a transcription factor that is highly conserved in vertebrate species, both in terms of protein sequence and expression patterns. Current data suggest that an earlier version of this gene, present in the common ancestor of humans, rodents, and birds, was already involved in establishing neuronal circuits underlying sensory-motor integration and learning of complex motor sequences. This may have represented one of the factors providing a permissive neural environment for subsequent evolution of vocal learning. Thus, dissection of neuromolecular pathways regulated by Foxp2 in nonlinguistic species is a necessary prerequisite for understanding the role of the human version of the gene in speech and language.
  • Fisher, S. E., Vargha-Khadem, F., Watkins, K. E., Monaco, A. P., & Pembrey, M. E. (1998). Localisation of a gene implicated in a severe speech and language disorder. Nature Genetics, 18, 168 -170. doi:10.1038/ng0298-168.

    Abstract

    Between 2 and 5% of children who are otherwise unimpaired have significant difficulties in acquiring expressive and/or receptive language, despite adequate intelligence and opportunity. While twin studies indicate a significant role for genetic factors in developmental disorders of speech and language, the majority of families segregating such disorders show complex patterns of inheritance, and are thus not amenable for conventional linkage analysis. A rare exception is the KE family, a large three-generation pedigree in which approximately half of the members are affected with a severe speech and language disorder which appears to be transmitted as an autosomal dominant monogenic trait. This family has been widely publicised as suffering primarily from a defect in the use of grammatical suffixation rules, thus supposedly supporting the existence of genes specific to grammar. The phenotype, however, is broader in nature, with virtually every aspect of grammar and of language affected. In addition, affected members have a severe orofacial dyspraxia, and their speech is largely incomprehensible to the naive listener. We initiated a genome-wide search for linkage in the KE family and have identified a region on chromosome 7 which co-segregates with the speech and language disorder (maximum lod score = 6.62 at theta = 0.0), confirming autosomal dominant inheritance with full penetrance. Further analysis of microsatellites from within the region enabled us to fine map the locus responsible (designated SPCH1) to a 5.6-cM interval in 7q31, thus providing an important step towards its identification. Isolation of SPCH1 may offer the first insight into the molecular genetics of the developmental process that culminates in speech and language.
  • Fisher, S. E. (2002). Isolation of the genetic factors underlying speech and language disorders. In R. Plomin, J. C. DeFries, I. W. Craig, & P. McGuffin (Eds.), Behavioral genetics in the postgenomic era (pp. 205-226). Washington, DC: American Psychological Association.

    Abstract

    This chapter highlights the research in isolating genetic factors underlying specific language impairment (SLI), or developmental dysphasia, which exploits newly developed genotyping technology, novel statistical methodology, and DNA sequence data generated by the Human Genome Project. The author begins with an overview of results from family, twin, and adoption studies supporting genetic involvement and then goes on to outline progress in a number of genetic mapping efforts that have been recently completed or are currently under way. It has been possible for genetic researchers to pinpoint the specific mutation responsible for some speech and language disorders, providing an example of how the availability of human genomic sequence data can greatly accelerate the pace of disease gene discovery. Finally, the author discusses future prospects on how molecular genetics may offer new insight into the etiology underlying speech and language disorders, leading to improvements in diagnosis and treatment.
  • Fisher, S. E. (2006). Tangled webs: Tracing the connections between genes and cognition. Cognition, 101, 270-297. doi:10.1016/j.cognition.2006.04.004.

    Abstract

    The rise of molecular genetics is having a pervasive influence in a wide variety of fields, including research into neurodevelopmental disorders like dyslexia, speech and language impairments, and autism. There are many studies underway which are attempting to determine the roles of genetic factors in the aetiology of these disorders. Beyond the obvious implications for diagnosis, treatment and understanding, success in these efforts promises to shed light on the links between genes and aspects of cognition and behaviour. However, the deceptive simplicity of finding correlations between genetic and phenotypic variation has led to a common misconception that there exist straightforward linear relationships between specific genes and particular behavioural and/or cognitive outputs. The problem is exacerbated by the adoption of an abstract view of the nature of the gene, without consideration of molecular, developmental or ontogenetic frameworks. To illustrate the limitations of this perspective, I select two cases from recent research into the genetic underpinnings of neurodevelopmental disorders. First, I discuss the proposal that dyslexia can be dissected into distinct components specified by different genes. Second, I review the story of the FOXP2 gene and its role in human speech and language. In both cases, adoption of an abstract concept of the gene can lead to erroneous conclusions, which are incompatible with current knowledge of molecular and developmental systems. Genes do not specify behaviours or cognitive processes; they make regulatory factors, signalling molecules, receptors, enzymes, and so on, that interact in highly complex networks, modulated by environmental influences, in order to build and maintain the brain. I propose that it is necessary for us to fully embrace the complexity of biological systems, if we are ever to untangle the webs that link genes to cognition.
  • Fisher, S. E., & Marcus, G. (2006). The eloquent ape: Genes, brains and the evolution of language. Nature Reviews Genetics, 7, 9-20. doi:10.1038/nrg1747.

    Abstract

    The human capacity to acquire complex language seems to be without parallel in the natural world. The origins of this remarkable trait have long resisted adequate explanation, but advances in fields that range from molecular genetics to cognitive neuroscience offer new promise. Here we synthesize recent developments in linguistics, psychology and neuroimaging with progress in comparative genomics, gene-expression profiling and studies of developmental disorders. We argue that language should be viewed not as a wholesale innovation, but as a complex reconfiguration of ancestral systems that have been adapted in evolutionarily novel ways.
  • Fisher, V. J. (2022). Unpeeling meaning: An analogy and metaphor identification and analysis tool for modern and post-modern dance, and beyond. In C. Fernandes, V. Evola, & C. Ribeiro (Eds.), Dance data, cognition, and multimodal communication (pp. 297-319). Oxford: Routledge. doi:10.4324/9781003106401-24.
  • Fitz, H. (2006). Church's thesis and physical computation. In A. Olszewski, J. Wolenski, & R. Janusz (Eds.), Church's Thesis after 70 years (pp. 175-219). Frankfurt a. M: Ontos Verlag.
  • FitzPatrick, I. (2006). Effects of sentence context in L2 natural speech comprehension. Master Thesis, Radboud Universiteit Nijmegen, Nijmegen.
  • Fletcher, J., Kidd, E., Stoakes, H., & Nordlinger, R. (2022). Prosodic phrasing, pitch range, and word order variation in Murrinhpatha. In R. Billington (Ed.), Proceedings of the 18th Australasian International Conference on Speech Science and Technology (pp. 201-205). Canberra: Australasian Speech Science and Technology Association.

    Abstract

    Like many Indigenous Australian languages, Murrinhpatha has flexible word order with no apparent configurational syntax. We analyzed an experimental corpus of Murrinhpatha utterances for associations between different thematic role orders, intonational phrasing patterns and pitch downtrends. We found that initial constituents (Agents or Patients) tend to carry the highest pitch targets (HiF0), followed by patterns of downstep and declination. Sentence-final verbs always have lower Hif0 values than either initial or medial Agents or Patients. Thematic role order does not influence intonational
    patterns, with the results suggesting that Murrinhpatha has positional prosody, although final nominals can disrupt global
    pitch downtrends regardless of thematic role.
  • Floyd, S. (2004). Purismo lingüístico y realidad local: ¿Quichua puro o puro quichuañol? In Proceedings of the Conference on Indigenous Languages of Latin America (CILLA)-I.
  • Floyd, S. (2006). The cash value of style in the Andean market. In E.-X. Lee, K. M. Markman, V. Newdick, & T. Sakuma (Eds.), SALSA 13: Texas Linguistic Forum vol. 49. Austin, TX: Texas Linguistics Forum.

    Abstract

    This paper examines code and style shifting during sales transactions based on two market case studies from highland Ecuador. Bringing together ideas of linguistic economy with work on stylistic variation and ethnohistorical research on Andean markets, I study bartering, market calls and sales pitches to show how sellers create stylistic performances distinguished by contrasts of code, register and poetic features. The interaction of the symbolic value of language with the economic values of the market presents a place to examine the relationship between discourse and the material world.
  • Forkel, S. J., Labache, L., Nachev, P., Thiebaut de Schotten, M., & Hesling, I. (2022). Stroke disconnectome decodes reading networks. Brain Structure and Function, 227, 2897-2908. doi:10.1007/s00429-022-02575-x.

    Abstract

    Cognitive functional neuroimaging has been around for over 30 years and has shed light on the brain areas relevant for reading. However, new methodological developments enable mapping the interaction between functional imaging and the underlying white matter networks. In this study, we used such a novel method, called the disconnectome, to decode the reading circuitry in the brain. We used the resulting disconnection patterns to predict a typical lesion that would lead to reading deficits after brain damage. Our results suggest that white matter connections critical for reading include fronto-parietal U-shaped fibres and the vertical occipital fasciculus (VOF). The lesion most predictive of a reading deficit would impinge on the left temporal, occipital, and inferior parietal gyri. This novel framework can systematically be applied to bridge the gap between the neuropathology of language and cognitive neuroscience.
  • Forkel, S. J. (2022). Lesion-Symptom Mapping: From Single Cases to the Human Disconnectome. In S. Della Salla (Ed.), Encyclopedia of Behavioral Neuroscience (2nd edition, pp. 142-154). Elsevier. doi:10.1016/B978-0-12-819641-0.00056-6.

    Abstract

    Lesion symptom mapping has revolutionized our understanding of the functioning of the human brain. Associating damaged voxels in the brain with loss of function has created a map of the brain that identifies critical areas. While these methods have significantly advanced our understanding, recent improvements have identified the need for multivariate and multimodal methods to map hidden lesions and damage to white matter networks beyond the lesion voxels. This article reviews the evolution of lesion-symptom mapping from single case studies to the human disconnectome.
  • Forkel, S. J., Friedrich, P., Thiebaut de Schotten, M., & Howells, H. (2022). White matter variability, cognition, and disorders: a systematic review. Brain Structure & Function, 227, 529-544. doi:10.1007/s00429-021-02382-w.

    Abstract

    Inter-individual differences can inform treatment procedures and—if accounted for—have the potential to significantly improve patient outcomes. However, when studying brain anatomy, these inter-individual variations are commonly unaccounted for, despite reports of differences in gross anatomical features, cross-sectional, and connectional anatomy. Brain connections are essential to facilitate functional organization and, when severed, cause impairments or complete loss of function. Hence, the study of cerebral white matter may be an ideal compromise to capture inter-individual variability in structure and function. We reviewed the wealth of studies that associate cognitive functions and clinical symptoms with individual tracts using diffusion tractography. Our systematic review indicates that tractography has proven to be a sensitive method in neurology, psychiatry, and healthy populations to identify variability and its functional correlates. However, the literature may be biased, as the most commonly studied tracts are not necessarily those with the highest sensitivity to cognitive functions and pathologies. Additionally, the hemisphere of the studied tract is often unreported, thus neglecting functional laterality and asymmetries. Finally, we demonstrate that tracts, as we define them, are not correlated with one, but multiple cognitive domains or pathologies. While our systematic review identified some methodological caveats, it also suggests that tract–function correlations might still be a promising tool in identifying biomarkers for precision medicine. They can characterize variations in brain anatomy, differences in functional organization, and predicts resilience and recovery in patients.

    Additional information

    supplementary file
  • Forkstam, C., Hagoort, P., Fernandez, G., Ingvar, M., & Petersson, K. M. (2006). Neural correlates of artificial syntactic structure classification. NeuroImage, 32(2), 956-967. doi:10.1016/j.neuroimage.2006.03.057.

    Abstract

    The human brain supports acquisition mechanisms that extract structural regularities implicitly from experience without the induction of an explicit model. It has been argued that the capacity to generalize to new input is based on the acquisition of abstract representations, which reflect underlying structural regularities in the input ensemble. In this study, we explored the outcome of this acquisition mechanism, and to this end, we investigated the neural correlates of artificial syntactic classification using event-related functional magnetic resonance imaging. The participants engaged once a day during an 8-day period in a short-term memory acquisition task in which consonant-strings generated from an artificial grammar were presented in a sequential fashion without performance feedback. They performed reliably above chance on the grammaticality classification tasks on days 1 and 8 which correlated with a corticostriatal processing network, including frontal, cingulate, inferior parietal, and middle occipital/occipitotemporal regions as well as the caudate nucleus. Part of the left inferior frontal region (BA 45) was specifically related to syntactic violations and showed no sensitivity to local substring familiarity. In addition, the head of the caudate nucleus correlated positively with syntactic correctness on day 8 but not day 1, suggesting that this region contributes to an increase in cognitive processing fluency.
  • Formenti, G., Theissinger, K., Fernandes, C., Bista, I., Bombarely, A., Bleidorn, C., Ciofi, C., Crottini, A., Godoy, J. A., Höglund, J., Malukiewicz, J., Mouton, A., Oomen, R. A., Sadye, P., Palsbøll, P. J., Pampoulie, C., Ruiz-López, M. J., Svardal, H., Theofanopoulou, C., De Vries, J. and 6 moreFormenti, G., Theissinger, K., Fernandes, C., Bista, I., Bombarely, A., Bleidorn, C., Ciofi, C., Crottini, A., Godoy, J. A., Höglund, J., Malukiewicz, J., Mouton, A., Oomen, R. A., Sadye, P., Palsbøll, P. J., Pampoulie, C., Ruiz-López, M. J., Svardal, H., Theofanopoulou, C., De Vries, J., Waldvogel, A.-M., Zhang, G., Mazzoni, C. J., Jarvis, E. D., Bálint, M., & European Reference Genome Atlas (ERGA) Consortium (2022). The era of reference genomes in conservation genomics. Trends in Ecology and Evolution, 37(3), 197-202. doi:10.1016/j.tree.2021.11.008.

    Abstract

    Progress in genome sequencing now enables the large-scale generation of reference genomes. Various international initiatives aim to generate reference genomes representing global biodiversity. These genomes provide unique insights into genomic diversity and architecture, thereby enabling comprehensive analyses of population and functional genomics, and are expected to revolutionize conservation genomics.
  • Fradera, A., & Sauter, D. (2004). Make yourself happy. In T. Stafford, & M. Webb (Eds.), Mind hacks: tips & tools for using your brain (pp. 325-327). Sebastopol, CA: O'Reilly.

    Abstract

    Turn on your affective system by tweaking your face muscles - or getting an eyeful of someone else doing the same.
  • Fradera, A., & Sauter, D. (2004). Reminisce hot and cold. In T. Stafford, & M. Webb (Eds.), Mind hacks: tips & tools for using your brain (pp. 327-331). Sebastopol, CA: O'Reilly.

    Abstract

    Find the fire that's cooking your memory systems.
  • Fradera, A., & Sauter, D. (2004). Signal emotion. In T. Stafford, & M. Webb (Eds.), Mind hacks: tips & tools for using your brain (pp. 320-324). Sebastopol, CA: O'Reilly.

    Abstract

    Emotions are powerful on the inside but often displayed in subtle ways on the outside. Are these displays culturally dependent or universal?
  • Frances, C., Navarra-Barindelli, E., & Martin, C. D. (2022). Speaker accent modulates the effects of orthographic and phonological similarity on auditory processing by learners of English. Frontiers in Psychology, 13. doi:10.3389/fpsyg.2022.892822.

    Abstract

    The cognate effect refers to translation equivalents with similar form between languages—i.e., cognates, such as “band” (English) and “banda” (Spanish)—being processed faster than words with dissimilar forms—such as, “cloud” and “nube.” Substantive literature supports this claim, but is mostly based on orthographic similarity and tested in the visual modality. In a previous study, we found an inhibitory orthographic similarity effect in the auditory modality—i.e., greater orthographic similarity led to slower response times and reduced accuracy. The aim of the present study is to explain this effect. In doing so, we explore the role of the speaker's accent in auditory word recognition and whether native accents lead to a mismatch between the participants' phonological representation and the stimulus. Participants carried out a lexical decision task and a typing task in which they spelled out the word they heard. Words were produced by two speakers: one with a native English accent (Standard American) and the other with a non-native accent matching that of the participants (native Spanish speaker from Spain). We manipulated orthographic and phonological similarity orthogonally and found that accent did have some effect on both response time and accuracy as well as modulating the effects of similarity. Overall, the non-native accent improved performance, but it did not fully explain why high orthographic similarity items show an inhibitory effect in the auditory modality. Theoretical implications and future directions are discussed.
  • 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., Paracchini, S., Smith, S. D., Richardson, A. J., Scerri, T. S., Cardon, L. R., Marlow, A. J., MacPhie, I. L., Walter, J., Pennington, B. F., Fisher, S. E., Olson, R. K., DeFries, J. C., Stein, J. F., & Monaco, A. P. (2004). A 77-kilobase region of chromosome 6p22.2 is associated with dyslexia in families from the United Kingdom and from the United States. American Journal of Human Genetics, 75(6), 1046-1058. doi:10.1086/426404.

    Abstract

    Several quantitative trait loci (QTLs) that influence developmental dyslexia (reading disability [RD]) have been mapped to chromosome regions by linkage analysis. The most consistently replicated area of linkage is on chromosome 6p23-21.3. We used association analysis in 223 siblings from the United Kingdom to identify an underlying QTL on 6p22.2. Our association study implicates a 77-kb region spanning the gene TTRAP and the first four exons of the neighboring uncharacterized gene KIAA0319. The region of association is also directly upstream of a third gene, THEM2. We found evidence of these associations in a second sample of siblings from the United Kingdom, as well as in an independent sample of twin-based sibships from Colorado. One main RD risk haplotype that has a frequency of ∼12% was found in both the U.K. and U.S. samples. The haplotype is not distinguished by any protein-coding polymorphisms, and, therefore, the functional variation may relate to gene expression. The QTL influences a broad range of reading-related cognitive abilities but has no significant impact on general cognitive performance in these samples. In addition, the QTL effect may be largely limited to the severe range of reading disability.
  • 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., 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.
  • Frangou, S., Modabbernia, A., Williams, S. C. R., Papachristou, E., Doucet, G. E., Agartz, I., Aghajani, M., Akudjedu, T. N., Albajes‐Eizagirre, A., Alnæs, D., Alpert, K. I., Andersson, M., Andreasen, N. C., Andreassen, O. A., Asherson, P., Banaschewski, T., Bargallo, N., Baumeister, S., Baur‐Streubel, R., Bertolino, A. and 181 moreFrangou, S., Modabbernia, A., Williams, S. C. R., Papachristou, E., Doucet, G. E., Agartz, I., Aghajani, M., Akudjedu, T. N., Albajes‐Eizagirre, A., Alnæs, D., Alpert, K. I., Andersson, M., Andreasen, N. C., Andreassen, O. A., Asherson, P., Banaschewski, T., Bargallo, N., Baumeister, S., Baur‐Streubel, R., Bertolino, A., Bonvino, A., Boomsma, D. I., Borgwardt, S., Bourque, J., Brandeis, D., Breier, A., Brodaty, H., Brouwer, R. M., Buitelaar, J. K., Busatto, G. F., Buckner, R. L., Calhoun, V., Canales‐Rodríguez, E. J., Cannon, D. M., Caseras, X., Castellanos, F. X., Cervenka, S., Chaim‐Avancini, T. M., Ching, C. R. K., Chubar, V., Clark, V. P., Conrod, P., Conzelmann, A., Crespo‐Facorro, B., Crivello, F., Crone, E. A., Dale, A. M., Davey, C., De Geus, E. J. C., De Haan, L., De Zubicaray, G. I., Den Braber, A., Dickie, E. W., Di Giorgio, A., Doan, N. T., Dørum, E. S., Ehrlich, S., Erk, S., Espeseth, T., Fatouros‐Bergman, H., Fisher, S. E., Fouche, J., Franke, B., Frodl, T., Fuentes‐Claramonte, P., Glahn, D. C., Gotlib, I. H., Grabe, H., Grimm, O., Groenewold, N. A., Grotegerd, D., Gruber, O., Gruner, P., Gur, R. E., Gur, R. C., Harrison, B. J., Hartman, C. A., Hatton, S. N., Heinz, A., Heslenfeld, D. J., Hibar, D. P., Hickie, I. B., Ho, B., Hoekstra, P. J., Hohmann, S., Holmes, A. J., Hoogman, M., Hosten, N., Howells, F. M., Hulshoff Pol, H. E., Huyser, C., Jahanshad, N., James, A., Jernigan, T. L., Jiang, J., Jönsson, E. G., Joska, J. A., Kahn, R., Kalnin, A., Kanai, R., Klein, M., Klyushnik, T. P., Koenders, L., Koops, S., Krämer, B., Kuntsi, J., Lagopoulos, J., Lázaro, L., Lebedeva, I., Lee, W. H., Lesch, K., Lochner, C., Machielsen, M. W. J., Maingault, S., Martin, N. G., Martínez‐Zalacaín, I., Mataix‐Cols, D., Mazoyer, B., McDonald, C., McDonald, B. C., McIntosh, A. M., McMahon, K. L., McPhilemy, G., Menchón, J. M., Medland, S. E., Meyer‐Lindenberg, A., Naaijen, J., Najt, P., Nakao, T., Nordvik, J. E., Nyberg, L., Oosterlaan, J., Ortiz‐García Foz, V., Paloyelis, Y., Pauli, P., Pergola, G., Pomarol‐Clotet, E., Portella, M. J., Potkin, S. G., Radua, J., Reif, A., Rinker, D. A., Roffman, J. L., Rosa, P. G. P., Sacchet, M. D., Sachdev, P. S., Salvador, R., Sánchez‐Juan, P., Sarró, S., Satterthwaite, T. D., Saykin, A. J., Serpa, M. H., Schmaal, L., Schnell, K., Schumann, G., Sim, K., Smoller, J. W., Sommer, I., Soriano‐Mas, C., Stein, D. J., Strike, L. T., Swagerman, S. C., Tamnes, C. K., Temmingh, H. S., Thomopoulos, S. I., Tomyshev, A. S., Tordesillas‐Gutiérrez, D., Trollor, J. N., Turner, J. A., Uhlmann, A., Van den Heuvel, O. A., Van den Meer, D., Van der Wee, N. J. A., Van Haren, N. E. M., Van 't Ent, D., Van Erp, T. G. M., Veer, I. M., Veltman, D. J., Voineskos, A., Völzke, H., Walter, H., Walton, E., Wang, L., Wang, Y., Wassink, T. H., Weber, B., Wen, W., West, J. D., Westlye, L. T., Whalley, H., Wierenga, L. M., Wittfeld, K., Wolf, D. H., Worker, A., Wright, M. J., Yang, K., Yoncheva, Y., Zanetti, M. V., Ziegler, G. C., Karolinska Schizophrenia Project (KaSP), Thompson, P. M., & Dima, D. (2022). Cortical thickness across the lifespan: Data from 17,075 healthy individuals aged 3–90 years. Human Brain Mapping, 43(1), 431-451. doi:10.1002/hbm.25364.

    Abstract

    Delineating the association of age and cortical thickness in healthy individuals is critical given the association of cortical thickness with cognition and behavior. Previous research has shown that robust estimates of the association between age and brain morphometry require large‐scale studies. In response, we used cross‐sectional data from 17,075 individuals aged 3–90 years from the Enhancing Neuroimaging Genetics through Meta‐Analysis (ENIGMA) Consortium to infer age‐related changes in cortical thickness. We used fractional polynomial (FP) regression to quantify the association between age and cortical thickness, and we computed normalized growth centiles using the parametric Lambda, Mu, and Sigma method. Interindividual variability was estimated using meta‐analysis and one‐way analysis of variance. For most regions, their highest cortical thickness value was observed in childhood. Age and cortical thickness showed a negative association; the slope was steeper up to the third decade of life and more gradual thereafter; notable exceptions to this general pattern were entorhinal, temporopolar, and anterior cingulate cortices. Interindividual variability was largest in temporal and frontal regions across the lifespan. Age and its FP combinations explained up to 59% variance in cortical thickness. These results may form the basis of further investigation on normative deviation in cortical thickness and its significance for behavioral and cognitive outcomes.
  • Frank, S. L. (2004). Computational modeling of discourse comprehension. PhD Thesis, Tilburg University, Tilburg.
  • 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.

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