Publications

Abstract

In einer Studie am Max-Planck-Institut in Nijmegen wurde untersucht, wie und wann Kinder die Regeln der Intonation in der niederländischen Sprache beherrschen. Die Ergebnisse zeigten, dass sie mehrere Entwicklungsstufen durchlaufen, bevor sie im Alter von sieben oder acht Jahren so intonieren wie die Erwachsenen, die einen Fokus (sprich: neue Information) mit einem fallenden Akzent markieren.

Abstract

This study examines the perception of paralinguistic intonational meanings deriving from Ohala’s Frequency Code (Experiment 1) and Gussenhoven’s Effort Code (Experiment 2) in British English and Dutch. Native speakers of British English and Dutch listened to a number of stimuli in their native language and judged each stimulus on four semantic scales deriving from these two codes: SELF-CONFIDENT versus NOT SELF-CONFIDENT, FRIENDLY versus NOT FRIENDLY (Frequency Code); SURPRISED versus NOT SURPRISED, and EMPHATIC versus NOT EMPHATIC (Effort Code). The stimuli, which were lexically equivalent across the two languages, differed in pitch contour, pitch register and pitch span in Experiment 1, and in pitch register, peak height, peak alignment and end pitch in Experiment 2. Contrary to the traditional view that the paralinguistic usage of intonation is similar across languages, it was found that British English and Dutch listeners differed considerably in the perception of “confident,” “friendly,” “emphatic,” and “surprised.” The present findings support a theory of paralinguistic meaning based on the universality of biological codes, which however acknowledges a languagespecific component in the implementation of these codes.

Abstract

Previous studies on focus marking in French have shown that post-focus deaccentuation, phrasing and phonetic cues like peak height and duration are employed to encode narrow focus but tonal patterns appear to be irrelevant. These studies either examined Standard French or did not control for the regional varieties spoken by the speakers. The present study investigated the use of all these cues in expressing narrow focus in naturally spoken declarative sentences in Toulousian French. It was found that similar to Standard French, Toulousian French uses post-focus deaccentuation and phrasing to mark focus. Different from Standard French, Toulousian French does not use the phonetic cues but use tonal patterns to encode focus. Tonal patterns ending with H\% occur more frequently in the VPs when the subject is in focus but tonal patterns ending with L\% occur more frequently in the VPs when the object is in focus. Our study thus provides a first insight into the similarities and differences in focus marking between Toulousian French and Standard French.

Abstract

This article aims to clarify misunderstandings over the relation between production and comprehension in the acquisition of the focus-to-accentuation mapping and shed new light on this issue on the basis of experimental data obtained from Dutch-speaking children. The reanalysis of recent production data on children's and adult's intonational marking of focus reveals that 4- to 5-year-olds can use accentuation to mark non-contrastive narrow focus in question–answer dialogues, although they accent the focal noun slightly less frequently than adults in both sentence-initial and sentence-final positions and tend to accent the noun in sentence-final position to seek confirmation. Regarding comprehension, the processing of accentuation as a cue to non-contrastive narrow focus was examined in question–answer dialogues by means of the RT technique. It was found that 4- to 5-year-olds can process the mapping of non-contrastive narrow focus to accentuation although they need longer processing time than adults. Based on these results, it is argued that children's comprehension is similar to their production at the age of 4 or 5, contra the earlier claim that production precedes comprehension in the acquisition of the focus-to-accentuation mapping. In both production and comprehension, children exhibit similar patterns to adults but are not yet fully adult-like. However, the difference between adults and children is mainly of a gradient nature.

Abstract

We investigated how listeners of two unrelated languages, Dutch and Korean, process phonotactically legitimate and illegitimate sounds spoken in Dutch and American English. To Dutch listeners, unreleased word-final stops are phonotactically illegal because word-final stops in Dutch are generally released in isolation, but to Korean listeners, released final stops are illegal because word-final stops are never released in Korean. Two phoneme monitoring experiments showed a phonotactic effect: Dutch listeners detected released stops more rapidly than unreleased stops whereas the reverse was true for Korean listeners. Korean listeners with English stimuli detected released stops more accurately than unreleased stops, however, suggesting that acoustic-phonetic cues associated with released stops improve detection accuracy. We propose that in non-native speech perception, phonotactic legitimacy in the native language speeds up phoneme recognition, the richness of acousticphonetic cues improves listening accuracy, and familiarity with the non-native language modulates the relative influence of these two factors.

Abstract

The goal of this study is to examine how the degree of vowel-to-vowel coarticulation varies as a function of prosodic factors such as nuclear-pitch accent (accented vs. unaccented), level of prosodic boundary (Prosodic Word vs. Intermediate Phrase vs. Intonational Phrase), and position-in-prosodic-domain (initial vs. final). It is hypothesized that vowels in prosodically stronger locations (e.g., in accented syllables and at a higher prosodic boundary) are not only coarticulated less with their neighboring vowels, but they also exert a stronger influence on their neighbors. Measurements of tongue position for English /a i/ over time were obtained with Carsten’s electromagnetic articulography. Results showed that vowels in prosodically stronger locations are coarticulated less with neighboring vowels, but do not exert a stronger influence on the articulation of neighboring vowels. An examination of the relationship between coarticulation and duration revealed that (a) accent-induced coarticulatory variation cannot be attributed to a duration factor and (b) some of the data with respect to boundary effects may be accounted for by the duration factor. This suggests that to the extent that prosodically conditioned coarticulatory variation is duration-independent, there is no absolute causal relationship from duration to coarticulation. It is proposed that prosodically conditioned V-to-V coarticulatory reduction is another type of strengthening that occurs in prosodically strong locations. The prosodically driven coarticulatory patterning is taken to be part of the phonetic signatures of the hierarchically nested structure of prosody.

Abstract

The aim of this study was to determine if Dutch speakers reliably signal phrase-internal lexical boundaries, and if so, how. Six speakers recorded 4 pairs of phonemically identical strong-weak-strong (SWS) strings with matching syllable boundaries but mismatching intended word boundaries (e.g. reis # pastei versus reispas # tij, or more broadly C1V2(C)#C2V2(C)C3V3(C) vs. C1V2(C)C2V2(C)#C3V3(C)). An Analysis of Variance revealed 3 acoustic parameters that were significantly greater in S#WS items (C2 DURATION, RIME1 DURATION, C3 BURST AMPLITUDE) and 5 parameters that were significantly greater in the SW#S items (C2 VOT, C3 DURATION, RIME2 DURATION, RIME3 DURATION, and V2 AMPLITUDE). Additionally, center of gravity measurements suggested that the [s] to [t] coarticulation was greater in reis # pa[st]ei versus reispa[s] # [t]ij. Finally, a Logistic Regression Analysis revealed that the 3 parameters (RIME1 DURATION, RIME2 DURATION, and C3 DURATION) contributed most reliably to a S#WS versus SW#S classification.

Abstract

The fluent production of speech is a very complex human skill. It requires the coordination of several articulatory subsystems. The instructions that lead articulatory movements to execution are the result of the interplay of speech production levels that operate above the articulatory network. During the process of word-form encoding, the groundwork for the articulatory programs is prepared which then serve the articulators as basic units. This thesis investigated whether or not syllables form the basis for the articulatory programs and in particular whether or not these syllable programs are stored, separate from the store of the lexical word-forms. It is assumed that syllable units are stored in a so-called 'mental syllabary'. The main goal of this thesis was to find evidence of the syllable playing a functionally important role in speech production and for the assumption that syllables are stored units. In a variant of the implicit priming paradigm, it was investigated whether information about the syllabic structure of a target word facilitates the preparation (advanced planning) of a to-be-produced utterance. These experiments yielded evidence for the functionally important role of syllables in speech production. In a subsequent row of experiments, it could be demonstrated that the production of syllables is sensitive to frequency. Syllable frequency effects provide strong evidence for the notion of a mental syllabary because only stored units are likely to exhibit frequency effects. In a last study, effects of syllable preparation and syllable frequency were investigated in a combined study to disentangle the two effects. The results of this last experiment converged with those reported for the other experiments and added further support to the claim that syllables play a core functional role in speech production and are stored in a mental syllabary.

Abstract

Models of speech production assume that syllables play a functional role in the process of word-form encoding in speech production. In this study, we investigate this claim and specifically provide evidence about the level at which syllables come into play. We report two studies using an odd-man-out variant of the implicit priming paradigm to examine the role of the syllable during the process of word formation. Our results show that this modified version of the implicit priming paradigm can trace the emergence of syllabic structure during spoken word generation. Comparing these results to prior syllable priming studies, we conclude that syllables emerge at the interface between phonological and phonetic encoding. The results are discussed in terms of the WEAVER++ model of lexical access.

Abstract

Some Trobriand Islands string figures by Stephan Claassen, Best, the Netherlands, and Joseph D'Antoni, Queens, New York, USA, in cooperation with Gunter Senft, Max Planck Institute for Psycholinguistics, Nijmegen, Netherlands (pages 72-128) - The construction and execution of fourteen string figures from the Trobriand Islands is given, along with accompanying chants (in the original, and in translation) and comparative notes. The figures were made during a 1984 string figure performance by two ladies in the village of Tauwema, on the island of Kaile’una. The performance was filmed by a team of German researchers. One of the figures appears to be not recorded before, and the construction method of another figure was hitherto unknown. Some of the other figures have their own peculiarities.

Abstract

Explanatory accounts of the emergence, spread, storage, persistence, and transformation of knowledge face numerous theoretical and methodological challenges. This paper argues that although anthropologists are uniquely positioned to address some of these challenges, joint engagement with relevant research in neighbouring disciplines holds considerable promise for advancement in the area. Researchers across the human and social sciences are increasingly recognizing the importance of conjointly operative and mutually contingent bodily, cognitive, neural, and social mechanisms informing the generation and communication of knowledge. Selected cognitive scientific work, in particular, is reviewed here and used to illustrate how anthropology may potentially richly contribute not only to descriptive and interpretive endeavours, but to the development and substantiation of explanatory accounts also. Résumé Les comptes-rendus portant sur l'émergence, la diffusion, la conservation, la persistance et la transformation des connaissances se heurtent à de nombreuses difficultés théoriques et méthodologiques. Bien que les anthropologues soient particulièrement bien placés pour affronter ces défis, des progrès considérables pourraient être réalisés en la matière dans le cadre d'une approche conjointe avec des disciplines voisines menant des recherches connexes. Les adeptes du décloisonnement des sciences humaines et sociales reconnaissent de plus en plus l'importance des interactions et interdépendances entre mécanismes physiques, cognitifs, neurologiques et sociaux dans la production et la communication des connaissances. Des travaux scientifiques choisis, en matière de cognition en particulier, sont examinés et utilisés pour illustrer la manière dont l'anthropologie pourrait apporter une riche contribution non seulement aux tâches descriptives et interprétatives, mais aussi à l'élaboration et la mise à l'épreuve de comptes-rendus explicatifs.

Abstract

Physical exercise is known to stimulate the release of endorphins, creating a mild sense of euphoria that has rewarding properties. Using pain tolerance (a conventional non-invasive
assay for endorphin release), we show that synchronized training in a college rowing crew creates a heightened endorphin surge compared
with a similar training regime carried out alone. This heightened effect from synchronized activity may explain the sense of euphoria experienced
during other social activities (such as
laughter, music-making and dancing) that are involved in social bonding in humans and possibly other vertebrates

Abstract

Processing speech in a non-native language requires listeners to cope with influences from their first language and to overcome the effects of limited exposure and experience. These factors may be particularly important when listening in adverse conditions. However,native listeners also suffer in noise, and the intelligibility of speech in noise clearly depends on factors which are independent of a listener’s first language. The current study explored the issue of language-independence by comparing the responses of eight listener groups differing in native language when confronted with the task of identifying English intervocalic consonants in three masker backgrounds, viz.stationary speech-shaped noise, temporally-modulated speech-shaped noise and competing English speech. The study analysed the effects of (i) noise type, (ii) speaker, (iii) vowel context, (iv) consonant, (v) phonetic feature classes, (vi) stress position, (vii) gender and (viii) stimulus onset relative to noise onset. A significant degree of similarity in the response to many of these factors was evident across all eight language groups, suggesting that acoustic and auditory considerations play a large role in determining intelligibility. Language- specific influences were observed in the rankings of individual consonants and in the masking effect of competing speech relative to speech-modulated noise.

Abstract

We report an investigation of the perception of American English phonemes by Dutch listeners proficient in English. Listeners identified either the consonant or the vowel in most possible English CV and VC syllables. The syllables were embedded in multispeaker babble at three signal-to-noise ratios (16 dB, 8 dB, and 0 dB). Effects of signal-to-noise ratio on vowel and consonant identification are discussed as a function of syllable position and of relationship to the native phoneme inventory. Comparison of the results with previously reported data from native listeners reveals that noise affected the responding of native and non-native listeners similarly.

Abstract

The hypothesis that vocalic categories are enhanced in infant-directed speech (IDS) has received a great deal of attention and support. In contrast, work focusing on the acoustic implementation of consonantal categories has been scarce, and positive, negative, and null results have been reported. However, interpreting this mixed evidence is complicated by the facts that the definition of phonetic enhancement varies across articles, that small and heterogeneous groups have been studied across experiments, and further that the categories chosen are likely affected by other characteristics of IDS. Here, an analysis of the English sibilants /s/ and /ʃ/ in a large corpus of caregivers’ speech to another adult and to their infant suggests that consonantal categories are indeed enhanced, even after controlling for typical IDS prosodic characteristics.

Abstract

The cooperative breeding hypothesis posits that cooperatively breeding species are motivated to act prosocially, that is, to behave in ways that provide benefits to others, and that cooperative breeding has played a central role in the evolution of human prosociality. However, investigations of prosocial behaviour in cooperative breeders have produced varying results and the mechanisms contributing to this variation are unknown. We investigated whether reciprocity would facilitate prosocial behaviour among cottontop tamarins, a cooperatively breeding primate species likely to engage in reciprocal altruism, by comparing the number of food rewards transferred to partners who had either immediately previously provided or denied rewards to the subject. Subjects were also tested in a non-social control condition. Overall, results indicated that reciprocity increased food transfers. However, temporal analyses revealed that when the tamarins' behaviour was evaluated in relation to the non-social control, results were best explained by (i) an initial depression in the transfer of rewards to partners who recently denied rewards, and (ii) a prosocial effect that emerged late in sessions independent of reciprocity. These results support the cooperative breeding hypothesis, but suggest a minimal role for positive reciprocity, and emphasize the importance of investigating proximate temporal mechanisms underlying prosocial behaviour.

Abstract

Language-specific differences in the size and distribution of the phonemic repertoire can have implications for the task facing listeners in recognising spoken words. A language with more phonemes will allow shorter words and reduced embedding of short words within longer ones, decreasing the potential for spurious lexical competitors to be activated by speech signals. We demonstrate that this is the case via comparative analyses of the vocabularies of English and Spanish. A language which uses suprasegmental as well as segmental contrasts, however, can substantially reduce the extent of spurious embedding.

Abstract

Native American English and non-native(Dutch)listeners identified either the consonant or the vowel in all possible American English CV and VC syllables. The syllables were embedded in multispeaker babble at three signal-to-noise ratios(0, 8, and 16 dB). The phoneme identification
performance of the non-native listeners was less accurate than that of the native listeners. All listeners were adversely affected by noise. With these isolated syllables, initial segments were harder to identify than final segments. Crucially, the effects of language background and noise did not interact; the performance asymmetry between the native and non-native groups was not significantly different across signal-to-noise ratios. It is concluded that the frequently reported disproportionate difficulty of non-native listening under disadvantageous conditions is not due to a disproportionate increase in phoneme misidentifications.

Abstract

The retiring academic may look back upon, inter alia, years of conference attendance. Speech error researchers are uniquely fortunate because they can collect data in any situation involving communication; accordingly, the retiring speech error researcher will have collected data at those conferences. We here address the issue of whether error data collected in situations involving conviviality (such as at conferences) is representative of error data in general. Our approach involved a comparison, across three levels of linguistic processing, between a specially constructed Conviviality Sample and the largest existing source of speech error data, the newly available Fromkin Speech Error Database. The results indicate that there are grounds for regarding the data in the Conviviality Sample as a better than average reflection of the true population of all errors committed. These findings encourage us to recommend further data collection in collaboration with like-minded colleagues.

Abstract

Listeners learn from their past experience of listening to spoken words, and use this learning to maximise the efficiency of future word recognition. This paper summarises evidence that the facilitatory effects of drawing on past experience are mediated by abstraction, enabling learning to be generalised across new words and new listening situations. Phoneme category retuning, which allows adaptation to speaker-specific articulatory characteristics, is generalised on the basis of relatively brief experience to words previously unheard from that speaker. Abstract knowledge of prosodic regularities is applied to recognition even of novel words for which these regularities were violated. Prosodic word-boundary regularities drive segmentation of speech into words independently of the membership of the lexical candidate set resulting from the segmentation operation. Each of these different cases illustrates how abstraction from past listening experience has contributed to the efficiency of lexical recognition.

Abstract

The phoneme detection task is widely used in spoken-word recognition research. Alphabetically literate participants, however, are more used to explicit representations of letters than of phonemes. The present study explored whether phoneme detection is sensitive to how target phonemes are, or may be, orthographically realized. Listeners detected the target sounds [b, m, t, f, s, k] in word-initial position in sequences of isolated English words. Response times were faster to the targets [b, m, t], which have consistent word-initial spelling, than to the targets [f, s, k], which are inconsistently spelled, but only when spelling was rendered salient by the presence in the experiment of many irregularly spelled filler words. Within the inconsistent targets [f, s, k], there was no significant difference between responses to targets in words with more usual (foam, seed, cattle) versus less usual (phone, cede, kettle) spellings. Phoneme detection is thus not necessarily sensitive to orthographic effects; knowledge of spelling stored in the lexical representations of words does not automatically become available as word candidates are activated. However, salient orthographic manipulations in experimental input can induce such sensitivity. We attribute this to listeners' experience of the value of spelling in everyday situations that encourage phonemic decisions (such as learning new names)

Abstract

Adverse listening conditions always make the perception of speech harder, but their deleterious effect is far greater if the speech we are trying to understand is in a non-native language. An imperfect signal can be coped with by recourse to the extensive knowledge one has of a native language, and imperfect knowledge of a non-native language can still support useful communication when speech signals are high-quality. But the combination of imperfect signal and imperfect knowledge leads rapidly to communication breakdown. This phenomenon is undoubtedly well known to every reader of Speech Communication from personal experience. Many readers will also have a professional interest in explaining, or remedying, the problems it produces. The journal’s readership being a decidedly interdisciplinary one, this interest will involve quite varied scientific approaches, including (but not limited to) modelling the interaction of first and second language vocabularies and phonemic repertoires, developing targeted listening training for language learners, and redesigning the acoustics of classrooms and conference halls. In other words, the phenomenon that this special issue deals with is a well-known one, that raises important scientific and practical questions across a range of speech communication disciplines, and Speech Communication is arguably the ideal vehicle for presentation of such a breadth of approaches in a single volume. The call for papers for this issue elicited a large number of submissions from across the full range of the journal’s interdisciplinary scope, requiring the guest editors to apply very strict criteria to the final selection. Perhaps unique in the history of treatments of this topic is the combination represented by the guest editors for this issue: a phonetician whose primary research interest is in second-language speech (MLGL), an engineer whose primary research field is the acoustics of masking in speech processing (MC), and a psychologist whose primary research topic is the recognition of spoken words (AC). In the opening article of the issue, these three authors together review the existing literature on listening to second-language speech under adverse conditions, bringing together these differing perspectives for the first time in a single contribution. The introductory review is followed by 13 new experimental reports of phonetic, acoustic and psychological studies of the topic. The guest editors thank Speech Communication editor Marc Swerts and the journal’s team at Elsevier, as well as all the reviewers who devoted time and expert efforts to perfecting the contributions to this issue.

Abstract

Recognising continuous speech in a second language is often unexpectedly difficult, as the operation of segmenting speech is so attuned to native-language structure. We report the initial steps in development of a novel training method for second-language listening, focusing on speech segmentation and employing a task designed for studying this: word-spotting. Listeners detect real words in sequences consisting of a word plus a minimal context. The present validation study shows that learners from varying non-English backgrounds successfully perform a version of this task in English, and display appropriate sensitivity to structural factors that also affect segmentation by native English listeners.

Abstract

The authors used 2 “visual-world” eye-tracking experiments to examine lexical access using Dutch constructions in which the verb did or did not place semantic constraints on its subsequent subject noun phrase. In Experiment 1, fixations to the picture of a cohort competitor (overlapping with the onset of the referent’s name, the subject) did not differ from fixations to a distractor in the constraining-verb condition. In Experiment 2, cross-splicing introduced phonetic information that temporarily biased the input toward the cohort competitor. Fixations to the cohort competitor temporarily increased in both the neutral and constraining conditions. These results favor models in which mapping from the input onto meaning is continuous over models in which contextual effects follow access of an initial form-based competitor set.

Abstract

Aims Circulating microRNAs (miRNAs) may represent a novel class of biomarkers; therefore, we examined whether acute myocardial infarction (MI) modulates miRNAs plasma levels in humans and mice. Methods and results Healthy donors (n = 17) and patients (n = 33) with acute ST-segment elevation MI (STEMI) were evaluated. In one cohort (n = 25), the first plasma sample was obtained 517 ± 309 min after the onset of MI symptoms and after coronary reperfusion with percutaneous coronary intervention (PCI); miR-1, -133a, -133b, and -499-5p were ∼15- to 140-fold control, whereas miR-122 and -375 were ∼87–90% lower than control; 5 days later, miR-1, -133a, -133b, -499-5p, and -375 were back to baseline, whereas miR-122 remained lower than control through Day 30. In additional patients (n = 8; four treated with thrombolysis and four with PCI), miRNAs and troponin I (TnI) were quantified simultaneously starting 156 ± 72 min after the onset of symptoms and at different times thereafter. Peak miR-1, -133a, and -133b expression and TnI level occurred at a similar time, whereas miR-499-5p exhibited a slower time course. In mice, miRNAs plasma levels and TnI were measured 15 min after coronary ligation and at different times thereafter. The behaviour of miR-1, -133a, -133b, and -499-5p was similar to STEMI patients; further, reciprocal changes in the expression levels of these miRNAs were found in cardiac tissue 3–6 h after coronary ligation. In contrast, miR-122 and -375 exhibited minor changes and no significant modulation. In mice with acute hind-limb ischaemia, there was no increase in the plasma level of the above miRNAs. Conclusion Acute MI up-regulated miR-1, -133a, -133b, and -499-5p plasma levels, both in humans and mice, whereas miR-122 and -375 were lower than control only in STEMI patients. These miRNAs represent novel biomarkers of cardiac damage.

Abstract

There are some 6000 languages spoken today, classfied in approximately 90 linguistic families and many isolates, and also differing across structural, typological, dimensions. Genetically, the human species is remarkably homogeneous, with the existant genetic diversity mostly explain by intra-population differences between individuals, but the remaining inter-population differences have a non-trivial structure. Populations splits and contacts influence both languages and genes, in principle allowing them to evolve in parallel ways. The farming/language co-dispersal hypothesis is a well-known such theory, whereby farmers spreading agriculture from its places of origin also spread their genes and languages. A different type of relationship was recently proposed, involving a genetic bias which influences the structural properties of language as it is transmitted across generations. Such a bias was proposed to explain the correlations between the distribution of tone languages and two brain development-related human genes and, if confirmed by experimental studies, it could represent a new factor explaining the distrbution of diversity. The present chapter overviews these related topics in the hope that a truly interdisciplinary approach could allow a better understanding of our complex (recent as well as evolutionary) history.

Abstract

This paper deals with the anaphoric linking of information units in spoken discourse in French, Italian, Dutch and German. We distinguish the information units ‘time’, ‘entity’, and ‘predicate’ and specifically investigate how speakers mark the information structure of their utterances and enhance discourse cohesion in contexts where the predicate contains given information but there is a change in one or more of the other information units. Germanic languages differ from Romance languages in the availability of a set of assertion-related particles (e.g. doch/toch, wel; roughly meaning ‘indeed’) and the option of highlighting the assertion component of a finite verb independently of its lexical content (verum focus). Based on elicited production data from 20 native speakers per language, we show that speakers of Dutch and German relate utterances to one another by focussing on this assertion component, and propose an analysis of the additive scope particles ook/auch (also) along similar lines. Speakers of Romance languages tend to highlight change or maintenance in the other information units. Such differences in the repertoire have consequences for the selection of units that are used for anaphoric linking. We conclude that there is a Germanic and a Romance way of signalling the information flow and enhancing discourse cohesion.

Abstract

Reviews the book, Talking voices: Repetition, dialogue, and imagery in conversational discourse. 2nd edition by Deborah Tannen. This book is the same as the 1989 original except for an added introduction. This introduction situates TV in the context of intertextuality and gives a survey of relevant research since the book first appeared. The strength of the book lies in its insightful analysis of the auditory side of conversation. Yet talking voices have always been embedded in richly contextualized multimodal speech events. As spontaneous and pervasive involvement strategies, both iconic gestures and ideophones should be of central importance to the analysis of conversational discourse. Unfortunately, someone who picks up this book is pretty much left in the dark about the prevalence of these phenomena in everyday face-to-face interaction all over the world.

Abstract

Ideophones are marked words that depict sensory events, for example English hippety-hoppety ‘in a limping and hobbling manner’ or Siwu mukumuku ‘mouth movements of a toothless person eating’. They typically have special sound patterns and distinct grammatical properties. Ideophones are found in many languages of the world, suggesting a common fascination with detailed sensory depiction, but reliable data on their meaning and use is still very scarce. This task involves video-recording spontaneous, informal explanations (“folk definitions”) of individual ideophones by native speakers, in their own language. The approach facilitates collection of rich primary data in a planned context while ensuring a large amount of spontaneity and freedom.

Abstract

Speakers often use spatial metaphors to talk about musical pitch (e.g., a low note, a high soprano). Previous experiments suggest that English speakers also think about pitches as high or low in space, even when theyʼre not using language or musical notation (Casasanto, 2010). Do metaphors in language merely reflect pre-existing associations between space and pitch, or might language also shape these non-linguistic metaphorical mappings? To investigate the role of language in pitch tepresentation, we conducted a pair of non-linguistic spacepitch interference experiments in speakers of two languages that use different spatial metaphors. Dutch speakers usually describe pitches as ʻhighʼ (hoog) and ʻlowʼ (laag). Farsi speakers, however, often describe high-frequency pitches as ʻthinʼ (naazok) and low-frequency pitches as ʻthickʼ (koloft). Do Dutch and Farsi speakers mentally represent pitch differently? To find out, we asked participants to reproduce musical pitches that they heard in the presence of irrelevant spatial information (i.e., lines that varied either in height or in thickness). For the Height Interference experiment, horizontal lines bisected a vertical reference line at one of nine different locations. For the Thickness Interference experiment, a vertical line appeared in the middle of the screen in one of nine thicknesses. In each experiment, the nine different lines were crossed with nine different pitches ranging from C4 to G#4 in semitone increments, to produce 81 distinct trials. If Dutch and Farsi speakers mentally represent pitch the way they talk about it, using different kinds of spatial representations, they should show contrasting patterns of cross-dimensional interference: Dutch speakersʼ pitch estimates should be more strongly affected by irrelevant height information, and Farsi speakersʼ by irrelevant thickness information. As predicted, Dutch speakersʼ pitch estimates were significantly modulated by spatial height but not by thickness. Conversely, Farsi speakersʼ pitch estimates were modulated by spatial thickness but not by height (2x2 ANOVA on normalized slopes of the effect of space on pitch: F(1,71)=17,15 p<.001). To determine whether language plays a causal role in shaping pitch representations, we conducted a training experiment. Native Dutch speakers learned to use Farsi-like metaphors, describing pitch relationships in terms of thickness (e.g., a cello sounds ʻthickerʼ than a flute). After training, Dutch speakers showed a significant effect of Thickness interference in the non-linguistic pitch reproduction task, similar to native Farsi speakers: on average, pitches accompanied by thicker lines were reproduced as lower in pitch (effect of thickness on pitch: r=-.22, p=.002). By conducting psychophysical tasks, we tested the ʻWhorfianʼ question without using words. Yet, results also inform theories of metaphorical language processing. According to psycholinguistic theories (e.g., Bowdle & Gentner, 2005), highly conventional metaphors are processed without any active mapping from the source to the target domain (e.g., from space to pitch). Our data, however, suggest that when people use verbal metaphors they activate a corresponding non-linguistic mapping from either height or thickness to pitch, strengthening this association at the expense of competing associations. As a result, people who use different metaphors in their native languages form correspondingly different representations of musical pitch. Casasanto, D. (2010). Space for Thinking. In Language, Cognition and Space: State of the art and new directions. V. Evans & P. Chilton (Eds.), 453-478, London: Equinox Publishing. Bowdle, B. & Gentner, D. (2005). The career of metaphor. Psychological Review, 112, 193-216.

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.

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.

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.

Abstract

Pre-lexical representations of speech sounds have been to shown to change dynamically through a mechanism of lexically driven learning. [Norris et al. (2003).] Here we investigated whether this type of learning occurs in native British English (BE) listeners for a word-final stop contrast which is commonly de-voiced in Dutch-accented English. Specifically, this study asked whether the change in pre-lexical representation also encodes information about the position of the critical sound within a word. After exposure to a native Dutch speaker's productions of de-voiced stops in word-final position (but not in any other positions), BE listeners showed evidence of perceptual learning in a subsequent cross-modal priming task, where auditory primes with voiceless final stops (e.g., [si:t], “seat”) facilitated recognition of visual targets with voiced final stops (e.g., “seed”). This learning generalized to test pairs where the critical contrast was in word-initial position, e.g., auditory primes such as [taun] (“town”), facilitated recognition of visual targets like “down”. Control listeners, who had not heard any stops by the speaker during exposure, showed no learning effects. The results suggest that under these exposure conditions, word position is not encoded in the pre-lexical adjustment to the accented phoneme contras

Abstract

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

Abstract

Reviews the book, Gesturecraft: The Manu-Facture of Meaning by Jurgen Streeck (see record 2009-03892-000). This book on gesture goes back to well before the recent emergence of a mainstream of interest in the topic. The author of this book presents his vision of the hands' involvement in the making of meaning. The author's stance falls within a second broad category of work, a much more interdisciplinary approach, which focuses on context more richly construed. The approach not only addresses socially and otherwise distributed cognition, but also tackles the less psychologically framed concerns of meaning as a collaborative achievement and its role in the practicalities of human social life. The author's insistence that the right point of departure for gesture work is "human beings in their daily activities" leads to a view of gesture that begins not with language, and not with mind, but with types of social and contextual settings that constitute ecologies for the deployment of the hands in making meaning. The author's categories go beyond a reliance on semiotic properties of hand movements or their relation to accompanying speech, being grounded also in contextual aspects of the local setting, social activity type and communicative goals. Thus, this book is a unique contribution to gesture research.

Abstract

Rede uitgesproken bij de aanvaarding van het ambt van hoogleraar Etnolinguïstiek, in het bijzonder die van Zuid-Oost Azië, aan de Faculteit der Letteren van de Radboud Universiteit Nijmegen op woensdag 4 november 2009 door prof. dr. N.J. Enfield

Abstract

People of all cultures have some degree of concern with categorizing types of communicative social action. All languages have words with meanings like speak, say, talk, complain, curse, promise, accuse, nod, wink, point and chant. But the exact distinctions they make will differ in both quantity and quality. How is communicative social action categorised across languages and cultures? The goal of this task is to establish a basis for cross-linguistic comparison of native metalanguages for social action.

Abstract

no abstract available

Abstract

This paper surveys the structure of questions and their responses in Lao, a Southwestern Tai language spoken in Laos, Thailand, and Cambodia. Data are from video-recordings of naturally occurring conversation in Vientiane, Laos. An outline of the lexico-grammatical options for formulating questions describes content (‘WH’) questions and polar (‘yes/no’) questions. The content question forms are from a set of indefinite pronouns. The WHAT, WHERE, and WHO categories have higher token frequency than the other categories. Polar questions are mostly formed by the addition of different turn-final markers, with different meanings. ‘Declarative questions’ (i.e., polar questions which are formally identical to statements) are common. An examination of the interactional functions of questions in the data show asymmetries between polar and content questions, with content questions used mostly for requesting information, while polar questions are also widely used for requesting confirmation, among other things. There is discussion of the kinds of responses that are appropriate or preferred given certain types of question. Alongside discussion of numerous examples, the paper provides quantitative data on the frequencies of various patterns in questions and responses. These data form part of a large-scale, ten-language coding study.

Abstract

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

Abstract

Both of these considerations of the evolution of language draw on research from a wide range of fields, although Enfield believes they do not pay sufficient attention to the dynamic context of human social behavior.

Abstract

Based on an analysis of 350 questions and their responses in a corpus of ordinary interactions, this paper gives a descriptive overview of the ways Dutch interactants formulate their utterances to make them recognizable as doing questioning and the options they rely on to respond to these questions. I describe the formal options for formulating questions and responses in Dutch and the range of social actions (e.g. requests for information, requests for confirmation) that are implemented through questions in the corpus. Finally, I focus on answer design and discuss some of the coherence relations between questions, answers, and social actions. Questions that are asked to elicit information are associated with the more prototypical, lexico-morpho-syntactically defined question type such as polar interrogatives and, mainly, content questions. Most polar questions with declarative syntax are not primarily concerned with obtaining information but with doing other kinds of social actions

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.

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.

Abstract

Manganese (Mn2+)-enhanced magnetic resonance imaging (MEMRI) offers the possibility to generate longitudinal maps of brain activity in unrestrained and behaving animals. However, Mn2+ is a metabolic toxin and a competitive inhibitor for Ca2+, and therefore, a yet unsolved question in MEMRI studies is whether the concentrations of metal ion used may alter brain physiology. In the present work we have investigated the behavioral, electrophysiological and histopathological consequences of MnCl2 administration at concentrations and dosage protocols regularly used in MEMRI. Three groups of animals were sc injected with saline, 0.1 and 0.5 mmol/kg MnCl2, respectively. In vivo electrophysiological recordings in the hippocampal formation revealed a mild but detectable decrease in both excitatory postsynaptic potentials (EPSP) and population spike (PS) amplitude under the highest MnCl2 dose. The EPSP to PS ratio was preserved at control levels, indicating that neuronal excitability was not affected. Experiments of pair pulse facilitation demonstrated a dose dependent increase in the potentiation of the second pulse, suggesting presynaptic Ca2+ competition as the mechanism for the decreased neuronal response. Tetanization of the perforant path induced a long-term potentiation of synaptic transmission that was comparable in all groups, regardless of treatment. Accordingly, the choice accuracy tested on a hippocampal-dependent learning task was not affected. However, the response latency in the same task was largely increased in the group receiving 0.5 mmol/kg of MnCl2. Immunohistological examination of the hippocampus at the end of the experiments revealed no sign of neuronal toxicity or glial reaction. Although we show that MEMRI at 0.1 mmol/Kg MnCl2 may be safely applied to the study of cognitive networks, a detailed assessment of toxicity is strongly recommended for each particular study and Mn2+ administration protocol.

Abstract

Magnetic resonance imaging (MRI) is widely used in basic and clinical research to map the structural and functional organization of the brain. An important need of MR research is for contrast agents that improve soft-tissue contrast, enable visualization of neuronal tracks, and enhance the capacity of MRI to provide functional information at different temporal scales. Unchelated manganese can be such an agent, and manganese-enhanced MRI (MEMRI) can potentially be an excellent technique for localization of brain activity (for review see Silva et al., 2004). Yet, the toxicity of manganese presents a major limitation for employing MEMRI in behavioral paradigms. We have tested systematically the voluntary wheel running behavior of rats after systemic application of MnCl2 in a dose range of 16–80 mg/kg, which is commonly used in MEMRI studies. The results show a robust dose-dependent decrease in motor performance, which was accompanied by weight loss and decrease in food intake. The adverse effects lasted for up to 7 post-injection days. The lowest dose of MnCl2 (16 mg/kg) produced minimal adverse effects, but was not sufficient for functional mapping. We have therefore evaluated an alternative method of manganese delivery via osmotic pumps, which provide a continuous and slow release of manganese. In contrast to a single systemic injection, the pump method did not produce any adverse locomotor effects, while achieving a cumulative concentration of manganese (80 mg/kg) sufficient for functional mapping. Thus, MEMRI with such an optimized manganese delivery that avoids toxic effects can be safely applied for longitudinal studies in behaving animals.

Abstract

Two-year-old children’s reasoning about the relation between their own and others’ preferences was investigated across two studies. In Experiment 1, children first observed 2 actors display their individual preferences for various toys. Children were then asked to make inferences about new, visually inaccessible toys and books that were described as being the favorite of each actor, unfamiliar to each actor, or disliked by each actor. Children tended to select the favorite toys and books from the actor who shared their own preference but chose randomly when the new items were unfamiliar to or disliked by the two actors. Experiment 2 extended these findings, showing that children do not generalize a shared preference across unrelated categories of items. Taken together, the results suggest that young children readily recognize when another person holds a preference similar to their own and use that knowledge appropriately to achieve desired outcomes.

Abstract

Two studies examined the influence of similarity on 3-year-old children’s initial liking of their peers. Children were presented with pairs of childlike puppets who were either similar or dissimilar to them on a specified dimension and then were asked to choose one of the puppets to play with as a measure of liking. Children selected the puppet whose food preferences or physical appearance matched their own. Unpacking the physical appearance finding revealed that the stable similarity of hair color may influence liking more strongly than the transient similarity of shirt color. A second study showed that children also prefer to play with a peer who shares their toy preferences, yet importantly, show no bias toward a peer who is similar on an arbitrary dimension. The findings provide insight into the earliest development of peer relations in young children.

Abstract

In this study we describe a distinctive pigment ring that appears in spider eyes after ecdysis and successively decreases in size in the days thereafter. Although pigment stops in spider eyes are well known, size variability is, to our knowledge, reported here for the first time. Representative species from three families (Ctenidae, Sparassidae and Lycosidae) are investigated and, for one of these species (Cupiennius salei, Ctenidae), the progressive increase in pupil diameter is monitored. In this species the pupil occupies only a fourth of the total projected lens surface after ecdysis and reaches its final size after approximately ten days. MicroCT images suggest that the decrease of the pigment ring is linked to the growth of the corneal lens after ecdysis. The pigment rings might improve vision in the immature eye by shielding light rays that would otherwise enter the eye via peripheral regions of the cornea, beside the growing crystalline lens.

Abstract

The problem of auxiliary fronting in complex polar questions occupies a prominent position within the nature versus nurture controversy in language acquisition. We employ a model of statistical learning which uses sequential and semantic information to produce utterances from a bag of words. This linear learner is capable of generating grammatical questions without exposure to these structures in its training environment. We also demonstrate that the model performs superior to n-gram learners on this task. Implications for nativist theories of language acquisition are discussed.

Abstract

Electrophysiological studies consistently find N400 effects of semantic incongruity in nonnative (L2) language comprehension. These N400 effects are often delayed compared with native (L1) comprehension, suggesting that semantic integration in one's second language occurs later than in one's first language. In this study, we investigated whether such a delay could be attributed to (1) intralingual lexical competition and/or (2) interlingual lexical competition. We recorded EEG from Dutch–English bilinguals who listened to English (L2) sentences in which the sentence-final word was (a) semantically fitting and (b) semantically incongruent or semantically incongruent but initially congruent due to sharing initial phonemes with (c) the most probable sentence completion within the L2 or (d) the L1 translation equivalent of the most probable sentence completion. We found an N400 effect in each of the semantically incongruent conditions. This N400 effect was significantly delayed to L2 words but not to L1 translation equivalents that were initially congruent with the sentence context. Taken together, these findings firstly demonstrate that semantic integration in nonnative listening can start based on word initial phonemes (i.e., before a single lexical candidate could have been selected based on the input) and secondly suggest that spuriously elicited L1 lexical candidates are not available for semantic integration in L2 speech comprehension.

Abstract

This dissertation is an ethnographic study of race and other forms of social categorization as approached through the discourse of the indigenous Chachi people of northwestern lowland Ecuador and their Afro-descendant neighbors. It combines the ethnographic methods of social anthropology with the methods of descriptive linguistics, letting social questions about racial formation guide linguistic inquiry. It provides new information about the largely unstudied indigenous South American language Cha’palaa, and connects that information about linguistic form to problems of the study of race and ethnicity in Latin America. Individual descriptive chapters address how the Cha’palaa number system is based on collectivity rather than plurality according to an animacy hierarchy that codes only human and human-like social collectivities, how a nominal set of ethnonyms linked to Chachi oral history become the recipients of collective marking as human collectivities, how those collectivities are co-referentially linked to speech participants through the deployment of the pronominal system, and how the multi-modal resource of gesture adds to these rich resources supplied by the spoken language for the expression of social realities like race. The final chapters address Chachi and Afrodescendant discourses in dialogue with each other and examine naturally occurring speech data to show how the linguistic forms described in previous chapters are used in social interaction. The central argument advances a position that takes the socially constructed status of race seriously and considers that for such constructions to exist as more abstract macro-categories they must be constituted by instances of social interaction, where elements of the social order are observable at the micro-level. In this way localized articulations of social categories become vehicles for the broader circulation of discourses structured by a history of racialized social inequality, revealing the extreme depth of racialization in human social conditioning. This dissertation represents a contribution to the field of linguistic anthropology as well as to descriptive linguistics of South American languages and to critical approaches to race and ethnicity in Latin America.

Abstract

This article briefly reviews some recent work on artificial language learning in children and adults. The final part of the article is devoted to a theoretical formulation of the language learning problem from a mechanistic neurobiological viewpoint and we show that it is logically possible to combine the notion of innate language constraints with, for example, the notion of domain general learning mechanisms. A growing body of empirical evidence suggests that the mechanisms involved in artificial language learning and in structured sequence processing are shared with those of natural language acquisition and natural language processing. Finally, by theoretically analyzing a formal learning model, we highlight Fodor’s insight that it is logically possible to combine innate, domain-specific constraints with domain-general learning mechanisms.

Abstract

Accurate reconstruction of prehistoric social organization is important if we are to put together satisfactory multidisciplinary scenarios about, for example, the dispersal of human groups. Such considerations apply in the case of Indo-European and Austronesian, two large-scale language families that are thought to represent Neolithic expansions. Ancestral kinship patterns have mostly been inferred through reconstruction of kin terminologies in ancestral proto-languages using the linguistic comparative method, and through geographical or distributional arguments based on the comparative patterns of kin terms and ethnographic kinship ‘facts’. While these approaches are detailed and valuable, the processes through which conclusions have been drawn from the data fail to provide explicit criteria for systematic testing of alternative hypotheses. Here, we use language trees derived using phylogenetic tree-building techniques on Indo-European and Austronesian vocabulary data. With these trees, ethnographic data and Bayesian phylogenetic comparative methods, we statistically reconstruct past marital residence and infer rates of cultural change between different residence forms, showing Proto-Indo-European to be virilocal and Proto-Malayo-Polynesian uxorilocal. The instability of uxorilocality and the rare loss of virilocality once gained emerge as common features of both families

Abstract

An MEG experiment was carried out in order to compare the processing of lexical-tonal and intonational contrasts, based on the tonal dialect of Roermond (the Netherlands). A set of words with identical phoneme sequences but distinct pitch contours, which represented different lexical meanings or discourse meanings (statement vs. question), were presented to native speakers as well as to a control group of speakers of Standard Dutch, a non-tone language. The stimuli were arranged in a mismatch paradigm, under three experimental conditions: in the first condition (lexical), the pitch contour differences between standard and deviant stimuli reflected differences between lexical meanings; in the second condition (intonational), the stimuli differed in their discourse meaning; in the third condition (combined), they differed both in their lexical and discourse meaning. In all three conditions, native as well as non-native responses showed a clear MMNm (magnetic mismatch negativity) in a time window from 150 to 250 ms after the divergence point of standard and deviant pitch contours. In the lexical condition, a stronger response was found over the left temporal cortex of native as well as non-native speakers. In the intonational condition, the same activation pattern was observed in the control group, but not in the group of native speakers, who showed a right-hemisphere dominance instead. Finally, in the combined (lexical and intonational) condition, brain reactions appeared to represent the summation of the patterns found in the other two conditions. In sum, the lateralization of pitch processing is condition-dependent in the native group only, which suggests that language experience determines how processes should be distributed over both temporal cortices, according to the functions available in the grammar.

Abstract

Turn on your affective system by tweaking your face muscles - or getting an eyeful of someone else doing the same.

Abstract

Find the fire that's cooking your memory systems.

Abstract

Emotions are powerful on the inside but often displayed in subtle ways on the outside. Are these displays culturally dependent or universal?

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.

Abstract

Population-based linkage analysis is a new method for analysing genomewide single nucleotide polymorphism (SNP) genotype data in case-control samples, which does not assume a common disease, common variant model. The genome is scanned for extended segments that show increased identity-by-descent sharing within case-case pairs, relative to case-control or control-control pairs. The method is robust to allelic heterogeneity and is suited to mapping genes which contain multiple, rare susceptibility variants of relatively high penetrance. We analysed genomewide SNP datasets for two schizophrenia case-control cohorts, collected in Aberdeen (461 cases, 459 controls) and Munich (429 cases, 428 controls). Population-based linkage testing must be performed within homogeneous samples and it was therefore necessary to analyse the cohorts separately. Each cohort was first subjected to several procedures to improve genetic homogeneity, including identity-by-state outlier detection and multidimensional scaling analysis. When testing only cases who reported a positive family history of major psychiatric disease, consistent with a model of strongly penetrant susceptibility alleles, we saw a distinct peak on chromosome 19q in both cohorts that appeared in meta-analysis (P=0.000016) to surpass the traditional level for genomewide significance for complex trait linkage. The linkage signal was also present in a third case-control sample for familial bipolar disorder, such that meta-analysing all three datasets together yielded a linkage P=0.0000026. A model of rare but highly penetrant disease alleles may be more applicable to some instances of major psychiatric diseases than the common disease common variant model, and we therefore suggest that other genome scan datasets are analysed with this new, complementary method.

Abstract

Attention deficit/hyperactivity disorder (ADHD) is one of the most common neuropsychiatric disorders with a worldwide prevalence around 4–5% in children and 1–4% in adults. Although ADHD is highly heritable and familial risk may contribute most strongly to the persistent form of the disorder, there are few studies on the genetics of ADHD in adults. In this paper, we present the first results of the International Multicentre Persistent ADHD Genetics CollaboraTion (IMpACT) that has been set up with the goal of performing research into the genetics of persistent ADHD. In this study, we carried out a combined analysis as well as a meta-analysis of the association of the SLC6A3/DAT1 gene with persistent ADHD in 1440 patients and 1769 controls from IMpACT and an earlier report. DAT1, encoding the dopamine transporter, is one of the most frequently studied genes in ADHD, though results have been inconsistent. A variable number tandem repeat polymorphism (VNTR) in the 3′-untranslated region (UTR) of the gene and, more recently, a haplotype of this VNTR with another VNTR in intron 8 have been the target of most studies. Although the 10/10 genotype of the 3′-UTR VNTR and the 10-6 haplotype of the two VNTRs are thought to be risk factors for ADHD in children, we found the 9/9 genotype and the 9-6 haplotype associated with persistent ADHD. In conclusion, a differential association of DAT1 with ADHD in children and in adults might help explain the inconsistencies observed in earlier association studies. However, the data might also imply that DAT1 has a modulatory rather than causative role in ADHD.

Abstract

To identify genetic variants associated with birth weight, we meta-analyzed six genome-wide association (GWA) studies (n = 10,623 Europeans from pregnancy/birth cohorts) and followed up two lead signals in 13 replication studies (n = 27,591). rs900400 near LEKR1 and CCNL1 (P = 2 x 10(-35)) and rs9883204 in ADCY5 (P = 7 x 10(-15)) were robustly associated with birth weight. Correlated SNPs in ADCY5 were recently implicated in regulation of glucose levels and susceptibility to type 2 diabetes, providing evidence that the well-described association between lower birth weight and subsequent type 2 diabetes has a genetic component, distinct from the proposed role of programming by maternal nutrition. Using data from both SNPs, we found that the 9% of Europeans carrying four birth weight-lowering alleles were, on average, 113 g (95% CI 89-137 g) lighter at birth than the 24% with zero or one alleles (P(trend) = 7 x 10(-30)). The impact on birth weight is similar to that of a mother smoking 4-5 cigarettes per day in the third trimester of pregnancy.