Publications

Abstract

Nobel's legacy, or the metamorphosis of what is idealistic Ever since the first Nobel prize in literature was awarded to Prudhomme in 1901, the decisions of the Swedish Academy have been subject to criticism. What is surprising in the changing decision policy as well as in its criticism is the fact that Alfred Nobel's original intentions are hardly ever taken into account: the Nobel prize is a philanthropic prize, it is not meant to select and honour the most eminent literary work but the work with maximal benefit to human beings. What is even more surprising is the fact that no one seems to care that the donator's Last Will is regularly broken.

Abstract

In this article, we discuss the implications of the fact that adult second language learners (outside the classroom) universally develop a well-structured, efficient and simple form of language–the Basic Variety (BV). Three questions are asked as to (1) the structural properties of the BV, (2) the status of these properties and (3) why some structural properties of ‘fully fledged’ languages are more complex. First, we characterize the BV in four respects: its lexical repertoire, the principles according to which utterances are structured, and temporality and spatiality expressed. The organizational principles proposed are small in number, and interact. We analyse this interaction, describing how the BV is put to use in various complex verbal tasks, in order to establish both what its communicative potentialities are, and also those discourse contexts where the constraints come into conflict and where the variety breaks down. This latter phenomenon provides a partial answer to the third question,concerning the relative complexity of ‘fully fledged’ languages–they have devices to deal with such cases. As for the second question, it is argued firstly that the empirically established continuity of the adult acquisition process precludes any assignment of the BV to a mode of linguistic expression (e.g., ‘protolanguage’) distinct from that of ‘fully fledged’ languages and, moreover, that the organizational constraints of the BV belong to the core attributes of the human language capacity, whereas a number of complexifications not attested in the BV are less central properties of this capacity. Finally, it is shown that the notion of feature strength, as used in recent versions of Generative Grammar, allows a straightforward characterization of the BV as a special case of an I-language, in the sense of this theory. Under this perspective, the acquisition of an Ilanguage beyond the BV can essentially be described as a change in feature strength.

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

Objectives: To investigate the time resolution of different methods for the computation of event-related desynchronization/synchronization (ERD/ERS), including one based on Hilbert transform. Methods: In order to better understand the time resolution of ERD/ERS, which is a function of factors such as the exact computation method, the frequency under study, the number of trials, and the sampling frequency, we simulated sudden changes in oscillation amplitude as well as very short and closely spaced events. Results: Hilbert-based ERD yields very similar results to ERD integrated over predefined time intervals (block ERD), if the block length is half the period length of the studied frequency. ERD predicts the onset of a change in oscillation amplitude with an error margin of only 10–30 ms. On the other hand, the time the ERD response needs to climb to its full height after a sudden change in oscillation amplitude is quite long, i.e. between 200 and 500 ms. With respect to sensitivity to short oscillatory events, the ratio between sampling frequency and electroencephalographic frequency band plays a major role. Conclusions: (1) The optimal time interval for the computation of block ERD is half a period of the frequency under investigation. (2) Due to the slow impulse response, amplitude effects in the ERD may in reality be caused by duration differences. (3) Although ERD based on the Hilbert transform does not yield any significant advantages over classical ERD in terms of time resolution, it has some important practical advantages.

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

As in the case of other non-English languages, the study of the acquisition of Turkish has mostly focused on aspects of grammatical morphology and syntax, largely neglecting the study of the effect of interactional factors on child morphosyntax. This paper reviews indications from past research that studying input and adult-child discourse can facilitate the study of the acquisition of morphosyntax in the Turkish language. It also provides some recent studies of Turkish child language on the relationship of child-directed speech to the early acquisition of morphosyntax, and on the pragmatic features of a certain kind of discourse form in child-directed speech called variation sets.

Abstract

The present study investigates hemispheric specialisation in the use of space in communicative gestures. For this purpose, we investigate split-brain patients in whom spontaneous and distinct right hand gestures can only be controlled by the left hemisphere and vice versa, the left hand only by the right hemisphere. On this anatomical basis, we can infer hemispheric specialisation from the performances of the right and left hands. In contrast to left hand dyspraxia in tasks that require language processing, split-brain patients utilise their left hands in a meaningful way in visuo-constructive tasks such as copying drawings or block-design. Therefore, we conjecture that split-brain patients are capable of using their left hands for the communication of the content of visuo-spatial animations via gestural demonstration. On this basis, we further examine the use of space in communicative gestures by the right and left hands. McNeill and Pedelty (1995) noted for the split-brain patient N.G. that her iconic right hand gestures were exclusively displayed in the right personal space. The present study investigates systematically if there is indication for neglect of the left personal space in right hand gestures in split-brain patients.

Abstract

The present study investigates hemispheric specialisation in the use of space in communicative gestures. For this purpose, we investigate split-brain patients in whom spontaneous and distinct right hand gestures can only be controlled by the left hemisphere and vice versa, the left hand only by the right hemisphere. On this anatomical basis, we can infer hemispheric specialisation from the performances of the right and left hands. In contrast to left hand dyspraxia in tasks that require language processing, split-brain patients utilise their left hands in a meaningful way in visuo-constructive tasks such as copying drawings or block-design. Therefore, we conjecture that split-brain patients are capable of using their left hands for the communication of the content of visuo-spatial animations via gestural demonstration. On this basis, we further examine the use of space in communicative gestures by the right and left hands. McNeill and Pedelty (1995) noted for the split-brain patient N.G. that her iconic right hand gestures were exclusively displayed in the right personal space. The present study investigates systematically if there is indication for neglect of the left personal space in right hand gestures in split-brain patients.

Abstract

This commentary on Alario et al. (2002) addresses two issues: (1) Different from what the authors suggest, there are no theories of production claiming the phonological word to be the upper bound of advance planning before the onset of articulation; (2) Their picture naming study of word frequency effects on speech onset is inconclusive by lack of a crucial control, viz., of object recognition latency. This is a perennial problem in picture naming studies of word frequency and age of acquisition effects

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.

Abstract

This commentary discusses whether abstract metrical frames are stored. For stress-assigning languages (e.g., Dutch and English), which have a dominant stress pattern, metrical frames are stored only for words that deviate from the default stress pattern. The majority of the words in these languages are produced without retrieving any independent syllabic or metrical frame.

Abstract

In their comment, Dell and O'Seaghdha (1991) adduced any effect on phonological probes for semantic alternatives to the activation of these probes in the lexical network. We argue that that interpretation is false and, in addition, that the model still cannot account for our data. Furthermore, and different from Dell and O'seaghda, we adduce semantic rebound to the lemma level, where it is so substantial that it should have shown up in our data. Finally, we question the function of feedback in a lexical network (other than eliciting speech errors) and discuss Dell's (1988) notion of a unified production-comprehension system.

Abstract

Recent work on sentence recognition suggests that listeners use their knowledge of the language to directly infer deep structure syntactic relations from surface structure markers. Suffixes may be such clues, especially in agglutinative languages. A cross-language (Dutch-Finnish) experiment is reported, designed to investigate whether the suffix structure of Finnish words (as opposed to suffixless Dutch words) can facilitate prompted recall of sentences in case these suffixes differentiate between possible deep structures. The experiment, in which 80 subjects recall sentences at the occasion of prompt words, gives only slight confirmatory evidence. Meanwhile, another prompted recall effect (Blumenthal's) could not be replicated.

Abstract

The core issue in the 19-century sources of psycholinguistics was the question, "Where does language come from?'' This genetic perspective unified the study of the ontogenesis, the phylogenesis, the microgenesis, and to some extent the neurogenesis of language. This paper makes the point that this original perspective is still a valid and attractive one. It is exemplified by a discussion of the genesis of spoken words.

Abstract

Li and Gleitman (Turning the tables: language and spatial reasoning. Cognition, in press) seek to undermine a large-scale cross-cultural comparison of spatial language and cognition which claims to have demonstrated that language and conceptual coding in the spatial domain covary (see, for example, Space in language and cognition: explorations in linguistic diversity. Cambridge: Cambridge University Press, in press; Language 74 (1998) 557): the most plausible interpretation is that different languages induce distinct conceptual codings. Arguing against this, Li and Gleitman attempt to show that in an American student population they can obtain any of the relevant conceptual codings just by varying spatial cues, holding language constant. They then argue that our findings are better interpreted in terms of ecologically-induced distinct cognitive styles reflected in language. Linguistic coding, they argue, has no causal effects on non-linguistic thinking – it simply reflects antecedently existing conceptual distinctions. We here show that Li and Gleitman did not make a crucial distinction between frames of spatial reference relevant to our line of research. We report a series of experiments designed to show that they have, as a consequence, misinterpreted the results of their own experiments, which are in fact in line with our hypothesis. Their attempts to reinterpret the large cross-cultural study, and to enlist support from animal and infant studies, fail for the same reasons. We further try to discern exactly what theory drives their presumption that language can have no cognitive efficacy, and conclude that their position is undermined by a wide range of considerations.

Abstract

This article explores the relation between language and cognition by examining the case of "absolute" (cardinal direction) spatial description in the Australian aboriginal language Guugu Yimithirr. This kind of spatial description is incongruent with the "relative" (e.g., left/right/front/back) spatial description familiar in European languages. Building on Haviland's 1993 analysis of Guugu Yimithirr directionals in speech and gesture, a series of informal experiments were developed. It is shown that Guugu Yimithirr speakers predominantly code for nonverbal memory in "absolute" concepts congruent with their language, while a comparative sample of Dutch speakers do so in "relative" concepts. Much anecdotal evidence also supports this. The conclusion is that Whorfian effects may in fact be demonstrable in the spatial domain.

Abstract

This review describes some recent, unexpected findings concerning variation in spatial language across cultures, and places them in the context of the general anthropology of space on the one hand, and theories of spatial cognition in the cognitive sciences on the other. There has been much concern with the symbolism of space in anthropological writings, but little on concepts of space in practical activities. This neglect of everyday spatial notions may be due to unwitting ethnocentrism, the assumption in Western thinking generally that notions of space are universally of a single kind. Recent work shows that systems of spatial reckoning and description can in fact be quite divergent across cultures, linguistic differences correlating with distinct cognitive tendencies. This unexpected cultural variation raises interesting questions concerning the relation between cultural and linguistic concepts and the biological foundations of cognition. It argues for more sophisticated models relating culture and cognition than we currently have available.

Abstract

Philosophers, psychologists, and linguists have argued that spatial conception is pivotal to cognition in general, providing a general, egocentric, and universal framework for cognition as well as metaphors for conceptualizing many other domains. But in an aboriginal community in Northern Queensland, a system of cardinal directions informs not only language, but also memory for arbitrary spatial arrays and directions. This work suggests that fundamental cognitive parameters, like the system of coding spatial locations, can vary cross-culturally, in line with the language spoken by a community. This opens up the prospect of a fruitful dialogue between anthropology and the cognitive sciences on the complex interaction between cultural and universal factors in the constitution of mind.

Abstract

In an earlier article (Levinson, 1987b), I raised the possibility that a Gricean theory of implicature might provide a systematic partial reduction of the Binding Conditions; the briefest of outlines is given in Section 2.1 below but the argumentation will be found in the earlier article. In this article I want, first, to show how that account might be further justified and extended, but then to introduce a radical alternative. This alternative uses the same pragmatic framework, but gives an account better adjusted to some languages. Finally, I shall attempt to show that both accounts can be combined by taking a diachronic perspective. The attraction of the combined account is that, suddenly, many facts about long-range reflexives and their associated logophoricity fall into place.

Abstract

We propose that the choice between the auxiliaries hebben 'have' and zijn 'be' in Dutch is determined by a particular semantic feature of verbs. In particular we propose a feature of meaning [IEPS] for 'inferable eventual position or state' that characterizes whether the action denoted by the verb allows us to determine the eventual position or state of the verb's highest argument. It is argued that only verbs which exhibit the feature [+IEPS] or which obtain the feature compositionally in the syntax select zijn as their auxiliary. Our analysis is then compared to a number of other analyses of auxiliary selection in Dutch.

Abstract

Mutations of the renal-specific chloride channel (CLCN5) gene, which is located on chromosome Xp11.22, are associated with hypercalciuric nephrolithiasis (kidney stones) in the Northern European and Japanese populations. CLCN5 encodes a 746 amino acid channel (CLC-5) that has approximately 12 transmembrane domains, and heterologous expression of wild-type CLC-5 in Xenopus oocytes has yielded outwardly rectifying chloride currents that were markedly reduced or abolished by these mutations. In order to assess further the structural and functional relationships of this recently cloned chloride channel, additional CLCN5 mutations have been identified in five unrelated families with this disorder. Three of these mutations were missense (G57V, G512R and E527D), one was a nonsense (R648Stop) and one was an insertion (30:H insertion). In addition, two of the mutations (30:H insertion and E527D) were demonstrated to be de novo, and the G57V and E527D mutations were identified in families of Afro-American and Indian origin, respectively. The G57V and 30:H insertion mutations represent the first CLCN5 mutations to be identified in the N-terminus region, and the R648Stop mutation, which has been observed previously in an unrelated family, suggests that this codon may be particularly prone to mutations. Heterologous expression of the mutations resulted in a marked reduction or abolition of the chloride currents, thereby establishing their functional importance. These results help to elucidate further the structure-function relationships of this renal chloride channel.

Abstract

Kidney stones (nephrolithiasis), which affect 12% of males and 5% of females in the western world, are familial in 45% of patients and are most commonly associated with hypercalciuria. Three disorders of hypercalciuric nephrolithiasis (Dent's disease, X-linked recessive nephrolithiasis (XRN), and X-linked recessive hypophosphataemic rickets (XLRH)) have been mapped to Xp11.22 (refs 5-7). A microdeletion in one Dent's disease kindred allowed the identification of a candidate gene, CLCN5 (refs 8,9) which encodes a putative renal chloride channel. Here we report the investigation of 11 kindreds with these renal tubular disorders for CLCN5 abnormalities; this identified three nonsense, four missense and two donor splice site mutations, together with one intragenic deletion and one microdeletion encompassing the entire gene. Heterologous expression of wild-type CLCN5 in Xenopus oocytes yielded outwardly rectifying chloride currents, which were either abolished or markedly reduced by the mutations. The common aetiology for Dent's disease, XRN and XLRH indicates that CLCN5 may be involved in other renal tubular disorders associated with kidney stones

Abstract

The study investigated the neuronal basis of the retrieval of words from the mental lexicon. The semantic category interference effect was used to locate lexical retrieval processes in time and space. This effect reflects the finding that, for overt naming, volunteers are slower when naming pictures out of a sequence of items from the same semantic category than from different categories. Participants named pictures blockwise either in the context of same- or mixedcategory items while the brain response was registered using magnetoencephalography (MEG). Fifteen out of 20 participants showed longer response latencies in the same-category compared to the mixed-category condition. Event-related MEG signals for the participants demonstrating the interference effect were submitted to a current source density (CSD) analysis. As a new approach, a principal component analysis was applied to decompose the grand average CSD distribution into spatial subcomponents (factors). The spatial factor indicating left temporal activity revealed significantly different activation for the same-category compared to the mixedcategory condition in the time window between 150 and 225 msec post picture onset. These findings indicate a major involvement of the left temporal cortex in the semantic interference effect. As this effect has been shown to take place at the level of lexical selection, the data suggest that the left temporal cortex supports processes of lexical retrieval during production.

Abstract

In previous research it has been shown that subject relative clauses are easier to process than object relative clauses. Several theories have been proposed that explain the difference on the basis of different theoretical perspectives. However, previous research tested relative clauses only with animate protagonists. In a corpus study of Dutch and German newspaper texts, we show that animacy is an important determinant of the distribution of subject and object relative clauses. In two experiments in Dutch, in which the animacy of the object of the relative clause is varied, no difference in reading time is obtained between subject and object relative clauses when the object is inanimate. The experiments show that animacy influences the processing difficulty of relative clauses. These results can only be accounted for by current major theories of relative clause processing when additional assumptions are introduced, and at the same time show that the possibility of semantically driven analysis can be considered as a serious alternative.

Abstract

We describe a family-based sample of individuals with reading disability collected as part of a quantitative trait loci (QTL) mapping study. Eighty-nine nuclear families (135 independent sib-pairs) were identified through a single proband using a traditional discrepancy score of predicted/actual reading ability and a known family history. Eight correlated psychometric measures were administered to each sibling, including single word reading, spelling, similarities, matrices, spoonerisms, nonword and irregular word reading, and a pseudohomophone test. Summary statistics for each measure showed a reduced mean for the probands compared to the co-sibs, which in turn was lower than that of the population. This partial co-sib regression back to the mean indicates that the measures are influenced by familial factors and therefore, may be suitable for a mapping study. The variance of each of the measures remained largely unaffected, which is reassuring for the application of a QTL approach. Multivariate genetic analysis carried out to explore the relationship between the measures identified a common factor between the reading measures that accounted for 54% of the variance. Finally the familiality estimates (range 0.32–0.73) obtained for the reading measures including the common factor (0.68) supported their heritability. These findings demonstrate the viability of this sample for QTL mapping, and will assist in the interpretation of any subsequent linkage findings in an ongoing genome scan.

Abstract

Two eye-monitoring studies examined when unexpressed schematic participant information specified by verbs is used during sentence processing. Experiment 1 compared the processing of sentences with passive and intransitive verbs hypothesized to introduce or not introduce, respectively, an agent when their main clauses were preceded by either agent-dependent rationale clauses or adverbial clause controls. While there were no differences in the processing of passive clauses following rationale and control clauses, intransitive verb clauses elicited anomaly effects following agent-dependent rationale clauses. To determine whether the source of this immediately available schematic participant information is lexically specified or instead derived solely from conceptual sources associated with verbs, Experiment 2 compared the processing of clauses with passive and middle verbs following rationale clauses (e.g., To raise money for the charity, the vase was/had sold quickly…). Although both passive and middle verb forms denote situations that logically require an agent, middle verbs, which by hypothesis do not lexically specify an agent, elicited longer processing times than passive verbs in measures of early processing. These results demonstrate that participants access and interpret lexically encoded schematic participant information in the process of recognizing a verb.

Abstract

Argues that the Seneca accent system can be explained more simply and naturally if the foot structure is reanalyzed as trochaic. Determination of the position of the accent by the position and structure of the accented syllable and by the position and structure of the post-tonic syllable; Assignment of the pair of syllables which interact to predict where accent is assigned in different iambic feet.

Abstract

In deze bijdrage wordt een modulair model van zinsproductie besproken. De planningsprocessen, die aan de productie van een zin voorafgaan, kunnen in twee hoofdcomponenten onderverdeeld worden: deconceptualisering (het bedenken van de inhoud van de uiting) en de formulering (het vastleggen van de linguïstische vorm). Het formuleringsproces bestaat weer uit twee componenten, te weten de grammatische en fonologische codering. Ook deze componenten bestaan elk weer uit een aantal subcomponenten. Dit artikel beschrijft wat de specifieke taak van iedere component is, hoe deze uitgevoerd wordt en hoe de componenten samenwerken. Tevens worden enkele belangrijke methoden van taalproductie-onderzoek besproken.

Abstract

Four experiments investigated the span of advance planning for phrases and short sentences. Dutch subjects were presented with pairs of objects, which they named using noun-phrase conjunctions (e.g., the translation equivalent of ''the arrow and the bag'') or sentences (''the arrow is next to the bag''). Each display was accompanied by an auditory distracter, which was related in form or meaning to the first or second noun of the utterance or unrelated to both. For sentences and phrases, the mean speech onset time was longer when the distracter was semantically related to the first or second noun and shorter when it was phonologically related to the first noun than when it was unrelated. No phonological facilitation was found for the second noun. This suggests that before utterance onset both target lemmas and the first target form were selected.

Abstract

Subjects named pictures while hearing distractor words that shared word-initial or word-final segments with the picture names or were unrelated to the picture names. The relative timing of distractor and picture presentation was varied. Compared with unrelated distractors, both types of related distractors facilitated picture naming under certain timing conditions. Begin-related distractors facilitated the naming responses if the shared segments began 150 ms before, at, or 150 ms after picture onset. By contrast, end-related distractors only facilitated the responses if the shared segments began at or 150 ms after picture onset. The results suggest that the phonological encoding of the beginning of a word is initiated before the encoding of its end.

Abstract

Eight experiments were carried out investigating whether different parts of a syllable must be phonologically encoded in a specific order or whether they can be encoded in any order. A speech production task was used in which the subjects in each test trial had to utter one out of three or five response words as quickly as possible. In the so-called homogeneous condition these words were related in form, while in the heterogeneous condition they were unrelated in form. For monosyllabic response words shorter reaction times were obtained in the homogeneous than in the heterogeneous condition when the words had the same onset, but not when they had the same rhyme. Similarly, for disyllabic response words, the reaction times were shorter in the homogeneous than in the heterogeneous condition when the words shared only the onset of the first syllable, but not when they shared only its rhyme. Furthermore, a stronger facilitatory effect was observed when the words had the entire first syllable in common than when they only shared the onset, or the onset and the nucleus, but not the coda of the first syllable. These results suggest that syllables are phonologically encoded in two ordered steps, the first of which is dedicated to the onset and the second to the rhyme.

Abstract

Eye movements have been shown to reflect word recognition and language comprehension processes occurring during reading and auditory language comprehension. The present study examines whether the eye movements speakers make during object naming similarly reflect speech planning processes. In Experiment 1, speakers named object pairs saying, for instance, 'scooter and hat'. The objects were presented as ordinary line drawings or with partly dele:ed contours and had high or low frequency names. Contour type and frequency both significantly affected the mean naming latencies and the mean time spent looking at the objects. The frequency effects disappeared in Experiment 2, in which the participants categorized the objects instead of naming them. This suggests that the frequency effects of Experiment 1 arose during lexical retrieval. We conclude that eye movements during object naming indeed reflect linguistic planning processes and that the speakers' decision to move their eyes from one object to the next is contingent upon the retrieval of the phonological form of the object names.

Abstract

Approximately 4% of English-speaking children are affected by specific language impairment (SLI), a disorder in the development of language skills despite adequate opportunity and normal intelligence. Several studies have indicated the importance of genetic factors in SLI; a positive family history confers an increased risk of development, and concordance in monozygotic twins consistently exceeds that in dizygotic twins. However, like many behavioral traits, SLI is assumed to be genetically complex, with several loci contributing to the overall risk. We have compiled 98 families drawn from epidemiological and clinical populations, all with probands whose standard language scores fall ⩾1.5 SD below the mean for their age. Systematic genomewide quantitative-trait–locus analysis of three language-related measures (i.e., the Clinical Evaluation of Language Fundamentals–Revised [CELF-R] receptive and expressive scales and the nonword repetition [NWR] test) yielded two regions, one on chromosome 16 and one on 19, that both had maximum LOD scores of 3.55. Simulations suggest that, of these two multipoint results, the NWR linkage to chromosome 16q is the most significant, with empirical P values reaching 10−5, under both Haseman-Elston (HE) analysis (LOD score 3.55; P=.00003) and variance-components (VC) analysis (LOD score 2.57; P=.00008). Single-point analyses provided further support for involvement of this locus, with three markers, under the peak of linkage, yielding LOD scores >1.9. The 19q locus was linked to the CELF-R expressive-language score and exceeds the threshold for suggestive linkage under all types of analysis performed—multipoint HE analysis (LOD score 3.55; empirical P=.00004) and VC (LOD score 2.84; empirical P=.00027) and single-point HE analysis (LOD score 2.49) and VC (LOD score 2.22). Furthermore, both the clinical and epidemiological samples showed independent evidence of linkage on both chromosome 16q and chromosome 19q, indicating that these may represent universally important loci in SLI and, thus, general risk factors for language impairment.

Abstract

The FOXP2 gene, located on human 7q31 (at the SPCH1 locus), encodes a transcription factor containing a polyglutamine tract and a forkhead domain. FOXP2 is mutated in a severe monogenic form of speech and language impairment, segregating within a single large pedigree, and is also disrupted by a translocation in an isolated case. Several studies of autistic disorder have demonstrated linkage to a similar region of 7q (the AUTS1 locus), leading to the proposal that a single genetic factor on 7q31 contributes to both autism and language disorders. In the present study, we directly evaluate the impact of the FOXP2 gene with regard to both complex language impairments and autism, through use of association and mutation screening analyses. We conclude that coding-region variants in FOXP2 do not underlie the AUTS1 linkage and that the gene is unlikely to play a role in autism or more common forms of language impairment.