Publications

Abstract

We have constructed two YAC contigs in the Xp11.23-p11.22 interval of the human X chromosome, a region that was previously poorly characterized. One contig, of at least 1.4 Mb, links the pseudogene OATL1 to the genes GATA1, TFE3, and SYP and also contains loci implicated in Wiskott-Aldrich syndrome and synovial sarcoma. A second contig, mapping proximal to the first, is estimated to be over 2.1 Mb and links the hypervariable locus DXS255 to DXS146, and also contains a chloride channel gene that is responsible for hereditary nephrolithiasis. We have used plasmid rescue, inverse PCR, and Alu-PCR to generate 20 novel markers from this region, 1 of which is polymorphic, and have positioned these relative to one another on the basis of YAC analysis. The order of previously known markers within our contigs, Xpter-OATL1-GATA-TFE3-SYP-DXS255146- Xcen, agrees with genomic pulsed-field maps of the region. In addition, we have constructed a rare-cutter restriction map for a 710-kb region of the DXS255-DXS146 contig and have identified three CPG islands. These contigs and new markers will provide a useful resource for more detailed analysis of Xp11.23-p11.22, a region implicated in several genetic diseases.

Abstract

Dent disease, an X-linked familial renal tubular disorder, is a form of Fanconi syndrome associated with proteinuria, hypercalciuria, nephrocalcinosis, kidney stones, and eventual renal failure. We have previously used positional cloning to identify the 3' part of a novel kidney-specific gene (initially termed hClC-K2, but now referred to as CLCN5), which is deleted in patients from one pedigree segregating Dent disease. Mutations that disrupt this gene have been identified in other patients with this disorder. Here we describe the isolation and characterization of the complete open reading frame of the human CLCN5 gene, which is predicted to encode a protein of 746 amino acids, with significant homology to all known members of the ClC family of voltage-gated chloride channels. CLCN5 belongs to a distinct branch of this family, which also includes the recently identified genes CLCN3 and CLCN4. We have shown that the coding region of CLCN5 is organized into 12 exons, spanning 25-30 kb of genomic DNA, and have determined the sequence of each exon-intron boundary. The elucidation of the coding sequence and exon-intron organization of CLCN5 will both expedite the evaluation of structure/function relationships of these ion channels and facilitate the screening of other patients with renal tubular dysfunction for mutations at this locus.

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.

Abstract

The role of gravity in spatial coordinate assignment and the mental representation of space were studiedin three experiments, varying different perceptual cues systematically: the retinal, the visual background, the vestibular, and proprioceptive information. Verbal descriptions of visually presented arrays were required under different head positions (straight/tilt) and under different gravitational conditions (gravity present/gravity absent). The results of two experiments conducted with 2 subjects who participated in a space flight revealed that subjects are able to adequately assign positions in space in the absence of gravitational information, and that they do this by using their head—retinal coordinates as primary references. This indicates that they cognitively adapted to the perceptually new situation.The findings from a third experiment conducted with a larger group of subjects under a condition in which the gravitational information was present but irrelevant to the task being solved (subjects were in a-horizontal 8upine-position) show that subjects, in general, are flexible in using cues other than gravitational ones as references when the latter cannot serve as a referential system. These findings, together with the observation that consistent spatial assignment is possible evenimmediately after first exposure to the perceptually totally novel situation of weightlessness, seem to suggest that the mental representation of space, onto which given perceptual information is mapped, is independent of a particular percept.

Abstract

A key function of attention is to select an appropriate subset of available information by facilitation of attended processes and/or inhibition of irrelevant processing. Functional imaging studies, using positron emission tomography, have during different experimental tasks revealed decreased neuronal activity in areas that process input from unattended sensory modalities. It has been hypothesized that these decreases reflect a selective inhibitory modulation of nonrelevant cortical processing. In this study we addressed this question using a continuous arithmetical task with and without concomitant disturbing auditory input (task-irrelevant speech). During the arithmetical task, irrelevant speech did not affect task-performance but yielded decreased activity in the auditory and midcingulate cortices and increased activity in the left posterior parietal cortex. This pattern of modulation is consistent with a top down inhibitory modulation of a nonattended input to the auditory cortex and a coexisting, attention-based facilitation of taskrelevant processing in higher order cortices. These findings suggest that task-related decreases in cortical activity may be of functional importance in the understanding of both attentional mechanisms and taskrelated information processing.

Abstract

Gestures are often regarded as the most typical compensatory device used by language learners in communicative trouble. Yet gestural solutions to communicative problems have rarely been studied within any theory of second language use. The work pre­sented in this volume aims to account for second language learners’ strategic use of speech-associated gestures by combining a process-oriented framework for communi­cation strategies with a cognitive theory of gesture. Two empirical studies are presented. The production study investigates Swedish lear­ners of French and French learners of Swedish and their use of strategic gestures. The results, which are based on analyses of both individual and group behaviour, contradict popular opinion as well as theoretical assumptions from both fields. Gestures are not primarily used to replace speech, nor are they chiefly mimetic. Instead, learners use gestures with speech, and although they do exploit mimetic gestures to solve lexical problems, they also use more abstract gestures to handle discourse-related difficulties and metalinguistic commentary. The influence of factors such as proficiency, task, culture, and strategic competence on gesture use is discussed, and the oral and gestural strategic modes are compared. In the evaluation study, native speakers’ assessments of learners’ gestures, and the potential effect of gestures on evaluations of proficiency are analysed and discussed in terms of individual communicative style. Compensatory gestures function at multiple communicative levels. This has implica­tions for theories of communication strategies, and an expansion of the existing frameworks is discussed taking both cognitive and interactive aspects into account.

Abstract

All accounts of communicative behaviour in general, and communicative strategies in particular, mention gesture1 in relation to language acquisition (cf. Faerch & Kasper 1983 for an overview). However, few attempts have been made to investigate how spoken language and spontaneous gesture combine to determine discourse referents. Referential gesture and referential discourse will be of particular interest, since communicative strategies in second language discourse often involve labelling problems.

This paper will focus on two issues:

1) Within a cognitive account of communicative strategies, gesture will be seen to be part of conceptual or analysis-based strategies, in that relational features in the referents are exploited;

2) It will be argued that communication strategies can be seen in terms of cue manipulation in the same sense as sentence processing has been analysed in terms of competing cues. Strategic behaviour, and indeed the process of referring in general, are seen in terms of cues, combining or competing to determine discourse referents. Gesture can then be regarded as being such a cue at the discourse level, and as a cue-based communicative strategy, in that gesture functions by exploiting physically based cues which can be recognised as being part of the referent. The question of iconicity and motivation vs. the arbitrary qualities of gesture as a strategic cue will be addressed in connection with this.

Abstract

Day-to-day interpretations of “space” are enmeshed in specific cultural and linguistic practices. For example, many cultures have an association between vertical height and social standing; more powerful people may be placed literally higher than others at social gatherings, and be spoken of as having higher status. This questionnaire is a guide for exploring relationships between space, language, and social structure. The goal is to better understand how space is organised in the focus community, and to investigate the extent to which space is used as a model for reproducing social forms.

Abstract

Modern word processors begin to offer a range of facilities for spelling, grammar and style checking in English. For the Dutch language hardly anything is available as yet. Many commercial word processing packages do include a hyphenation routine and a lexicon-based spelling checker but the practical usefulness of these tools is limited due to certain properties of Dutch orthography, as we will explain below. In this chapter we describe a text editor which incorporates a great deal of lexical, morphological and syntactic knowledge of Dutch and monitors the orthographical quality of Dutch texts. Section 1 deals with those aspects of Dutch orthography which pose problems to human authors as well as to computational language sensitive text editing tools. In section 2 we describe the design and the implementation of the text editor we have built. Section 3 is mainly devoted to a provisional evaluation of the system.

Abstract

When you compare the behavior of two different age groups which are trying to master the same sensori-motor or cognitive skill, you are likely to discover varying learning routes: different stages, different intervals between stages, or even different orderings of stages. Such heterogeneous learning trajectories may be caused by at least six different types of factors: (1) Initial state: the kinds and levels of skills the learners have available at the onset of the learning episode. (2) Learning mechanisms: rule-based, inductive, connectionist, parameter setting, and so on. (3) Input and feedback characteristics: learning stimuli, information about success and failure. (4) Information processing mechanisms: capacity limitations, attentional biases, response preferences. (5) Energetic variables: motivation, emotional reactions. (6) Final state: the fine-structure of kinds and levels of subskills at the end of the learning episode. This applies to language acquisition as well. First and second language learners probably differ on all six factors. Nevertheless, the debate between advocates and opponents of the Fundamental Difference Hypothesis concerning L1 and L2 acquisition have looked almost exclusively at the first two factors. Those who believe that L1 learners have access to Universal Grammar whereas L2 learners rely on language processing strategies, postulate different learning mechanisms (UG parameter setting in L1, more general inductive strategies in L2 learning). Pienemann opposes this view and, based on his Processability Theory, argues that L1 and L2 learners start out from different initial states: they come to the grammar learning task with different structural hypotheses (SOV versus SVO as basic word order of German).

Abstract

Comments on a study by Frazier and others on Dutch-language lexical processing. Claims that the control condition in the experiment was inadequate and that an assumption made by Frazier about closed class verbal items is inaccurate, and proposes an alternative account of a subset of the data from the experiment

Abstract

Raises objections to L. Frazier et al's (see record 1994-32229-001) report of an experimental study intended to test Schreuder's (1990) Morphological Integration (MI) model concerning the processing of separable and inseparable verbs and shows that the logic of the experiment is flawed. The problem is rooted in the notion of a separable complex verb. The conclusion is drawn that Frazier et al's experimental data cannot be taken as evidence for the theoretical propositions they develop about the MI model.

Abstract

A series of experiments is reported in which subjects describe simple visual scenes by means of both sentential and non-sentential responses. The data support the following statements about the lexicalization (word finding) process. (1) Words used by speakers in overt naming or sentence production responses are selected by a sequence of two lexical retrieval processes, the first yielding abstract pre-phonological items (Ll -items), the second one adding their phonological shapes (L2-items). (2) The selection of several Ll-items for a multi-word utterance can take place simultaneously. (3) A monitoring process is watching the output of Ll-lexicalization to check if it is in keeping with prevailing constraints upon utterance format. (4) Retrieval of the L2-item which corresponds with a given LI-item waits until the Ld-item has been checked by the monitor, and all other Ll-items needed for the utterance under construction have become available. A coherent picture of the lexicalization process begins to emerge when these characteristics are brought together with other empirical results in the area of naming and sentence production, e.g., picture naming reaction times (Seymour, 1979), speech errors (Garrett, 1980), and word order preferences (Bock, 1982).

Abstract

This task investigates the expression of “enter” and “exit” events, and is a supplement to the Motion Elicitation task (https://doi.org/10.17617/2.3003391). Consultants are asked to describe a series of animated clips where a man moves into or out of a house. The clips focus on contrasts to do with perspective (e.g., whether the man appears to move away or towards the viewer) and transitional movement (e.g., whether the man walks or “teleports” into his new location).

Abstract

The previous literature has suggested that the hand movement in co-speech gestures and signs consists of a series of phases with qualitatively different dynamic characteristics. In this paper, we propose a syntagmatic rule system for movement phases that applies to both co-speech gestures and signs. Descriptive criteria for the rule system were developed for the analysis video-recorded continuous production of signs and gesture. It involves segmenting a stream of body movement into phases and identifying different phase types. Two human coders used the criteria to analyze signs and cospeech gestures that are produced in natural discourse. It was found that the criteria yielded good inter-coder reliability. These criteria can be used for the technology of automatic recognition of signs and co-speech gestures in order to segment continuous production and identify the potentially meaningbearing phase.

Abstract

Do our hands 'speak the same language' across cultures? Gesture is the silent partner of spoken languages in face-to-face interaction, but we still have a lot to learn about gesture practices in different speech communities. The primary purpose of this task is to collect data in naturalistic settings that can be used to investigate the linguistic and cultural relativity of gesture performance, especially spatially indicative gestures. It involves video-recording pairs of speakers in both free conversation and more structured communication tasks (e.g., describing film plots).

Please note: the stimuli mentioned in this entry are available elsewhere: 'The Pear Story', a short film made at the University of California at Berkeley; "Frog, where are you?" from the original Mayer (1969) book, as published in the Appendix of Berman & Slobin (1994).

Abstract

During the last 25 years, second language acquisition (SLA) research hasmade considerable progress, but is still far from proving a solid basis for foreign language teaching, or from a general theory of SLA. In addition, its status within the linguistic disciplines is still very low. I argue this has not much to do with low empirical or theoretical standards in the field—in this regard, SLA research is fully competitive—but with a particular perspective on the acquisition process: SLA researches learners' utterances as deviations from a certain target, instead of genuine manifestations of underlying language capacity; it analyses them in terms of what they are not rather than what they are. For some purposes such a "target deviation perspective" makes sense, but it will not help SLA researchers to substantially and independently contribute to a deeper understanding of the structure and function of the human language faculty. Therefore, these findings will remain of limited interest to other scientists until SLA researchers consider learner varieties a normal, in fact typical, manifestation of this unique human capacity.

Abstract

In John has left London, it is clear that the event in question, John's leaving London, has occurred in the past, for example yesterday at ten. Why is it impossible, then, to make this the event time more explicit by such an adverbial, as in Yesterday at ten, John has left London? Any solution of this puzzle crucially hinges on the meaning assigned to the perfect, and the present perfect in particular. Two such solutions, a scope solution and the 'current relevance'-solution, are discussed and shown to be inadequate. A new, strictly compositional analysis of the English perfect is suggested, and it is argued that the imcompatibility of the present perfect and most past tense adverbials has neither syntactic nor semantic reasons but follows from a simple pragmatical constraint, called here the 'position-definiteness constraint'. It is the very same constraint, which also makes an utterance such as At ten, John had left at nine pragmatically odd, even if John indeed had left at nine, and hence the utterance is true.

Abstract

In various applications of forensic phonetics the question arises as to how far aural-perceptual speaker recognition performance is reliable. Therefore, it is necessary to examine the relationship between speaker recognition results and human perception/production abilities like musicality or speech sensitivity. In this study, performance in a speaker recognition experiment and a speech sensitivity test are correlated. The results show a moderately significant positive correlation between the two tasks. Generally, performance in the speaker recognition task was better than in the speech sensitivity test. Professionals in speech and singing yielded a more homogeneous correlation than non-experts. Training in speech as well as choir-singing seems to have a positive effect on performance in speaker recognition. It may be concluded, firstly, that in cases where the reliability of voice line-up results or the credibility of a testimony have to be considered, the speech sensitivity test could be a useful indicator. Secondly, the speech sensitivity test might be integrated into the canon of possible procedures for the accreditation of forensic phoneticians. Both tests may also be used in combination.

Abstract

This paper introduces a special issue of Cognition on lexical access in speech production. Over the last quarter century, the psycholinguistic study of speaking, and in particular of accessing words in speech, received a major new impetus from the analysis of speech errors, dysfluencies and hesitations, from aphasiology, and from new paradigms in reaction time research. The emerging theoretical picture partitions the accessing process into two subprocesses, the selection of an appropriate lexical item (a “lemma”) from the mental lexicon, and the phonological encoding of that item, that is, the computation of a phonetic program for the item in the context of utterance. These two theoretical domains are successively introduced by outlining some core issues that have been or still have to be addressed. The final section discusses the controversial question whether phonological encoding can affect lexical selection. This partitioning is also followed in this special issue as a whole. There are, first, four papers on lexical selection, then three papers on phonological encoding, and finally one on the interaction between selection and phonological encoding.

Abstract

The purpose of this study was to relate a psycholinguistic processing model of picture naming to the dynamics of cortical activation during picture naming. The activation was recorded from eight Dutch subjects with a whole-head neuromagnetometer. The processing model, based on extensive naming latency studies, is a stage model. In preparing a picture's name, the speaker performs a chain of specific operations. They are, in this order, computing the visual percept, activating an appropriate lexical concept, selecting the target word from the mental lexicon, phonological encoding, phonetic encoding, and initiation of articulation. The time windows for each of these operations are reasonably well known and could be related to the peak activity of dipole sources in the individual magnetic response patterns. The analyses showed a clear progression over these time windows from early occipital activation, via parietal and temporal to frontal activation. The major specific findings were that (1) a region in the left posterior temporal lobe, agreeing with the location of Wernicke's area, showed prominent activation starting about 200 msec after picture onset and peaking at about 350 msec, (i.e., within the stage of phonological encoding), and (2) a consistent activation was found in the right parietal cortex, peaking at about 230 msec after picture onset, thus preceding and partly overlapping with the left temporal response. An interpretation in terms of the management of visual attention is proposed.