Publications

Abstract

We provide an annotated coding scheme for other-initiated repair, along with guidelines for building collections and aggregating cases based on interactionally relevant similarities and differences. The questions and categories of the scheme are grounded in inductive observations of conversational data and connected to a rich body of work on other-initiated repair in conversation analysis. The scheme is developed and tested in a 12-language comparative project and can serve as a stepping stone for future work on other-initiated repair and the systematic comparative study of conversational structures.

Abstract

Kyeei Yao, an age group leader, oversees a festival in Akpafu-Mempeasem, Volta Region, Ghana. The expensive draped cloth, Ashanti-inspired wreath, strings of beads that are handed down through the generations, and digital wristwatch work together to remind us that culture is a moving target, always renewing and reshaping itself. Kããã is a Siwu ideophone for "looking attentively".

Abstract

This paper addresses the question why body-part terms are so often used to talk about other things than body parts. It is argued that the strategy of falling back on stable common ground to maximize the chances of successful communication is the driving force behind the selective advantage of body-part terms. The many different ways in which languages may implement this universal strategy suggest that, in order to properly understand the privileged role of the body in the evolution of linguistic signs, we have to look beyond the body to language in its socio-cultural context. A theory which acknowledges the interacting influences of stable common ground and diversified cultural practices on the evolution of linguistic signs will offer the most explanatory power for both universal patterns and language-specific variation.

Abstract

Sound symbolism is a phenomenon with broad relevance to the study of language and mind, but there has been a disconnect between its investigations in linguistics and psychology. This study tests the sound-symbolic potential of ideophones—words described as iconic—in an experimental task that improves over prior work in terms of ecological validity and experimental control. We presented 203 ideophones from five languages to eighty-two Dutch listeners in a binary-choice task, in four versions: original recording, full diphone resynthesis, segments-only resynthesis, and prosody-only resynthesis. Listeners guessed the meaning of all four versions above chance, confirming the iconicity of ideophones and showing the viability of speech synthesis as a way of controlling for segmental and suprasegmental properties in experimental studies of sound symbolism. The success rate was more modest than prior studies using pseudowords like bouba/kiki, implying that assumptions based on such words cannot simply be transferred to natural languages. Prosody and segments together drive the effect: neither alone is sufficient, showing that segments and prosody work together as cues supporting iconic interpretations. The findings cast doubt on attempts to ascribe iconic meanings to segments alone and support a view of ideophones as words that combine arbitrariness and iconicity.We discuss the implications for theory and methods in the empirical study of sound symbolism and iconicity.

Abstract

Background Sanger sequencing, still the standard technique for genetic testing in most diagnostic laboratories and until recently widely used in research, is gradually being complemented by next-generation sequencing (NGS). No single mutation detection technique is however perfect in identifying all mutations. Therefore, we wondered to what extent inconsistencies between Sanger sequencing and NGS affect the molecular diagnosis of patients. Since mutations in SCN1A, the major gene implicated in epilepsy, are found in the majority of Dravet syndrome (DS) patients, we focused on missed SCN1A mutations. Methods We sent out a survey to 16 genetic centers performing SCN1A testing. Results We collected data on 28 mutations initially missed using Sanger sequencing. All patients were falsely reported as SCN1A mutation-negative, both due to technical limitations and human errors. Conclusion We illustrate the pitfalls of Sanger sequencing and most importantly provide evidence that SCN1A mutations are an even more frequent cause of DS than already anticipated.

Abstract

Reduced forms like yeshay for yesterday often occur in conversations. Previous behavioral research reported a processing advantage for full over reduced forms. The present study investigated whether this processing advantage is reflected in a modulation of alpha (8–12 Hz) and gamma (30+ Hz) band activity. In three electrophysiological experiments, participants listened to full and reduced forms in isolation (Experiment 1), sentence-final position (Experiment 2), or mid-sentence position (Experiment 3). Alpha power was larger in response to reduced forms than to full forms, but only in Experiments 1 and 2. We interpret these increases in alpha power as reflections of higher auditory cognitive load. In all experiments, gamma power only increased in response to full forms, which we interpret as showing that lexical activation spreads more quickly through the semantic network for full than for reduced forms. These results confirm a processing advantage for full forms, especially in non-medial sentence position.

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

There is ample evidence that native and non-native listeners use lexical knowledge to retune their native phonetic categories following ambiguous pronunciations. The present study investigates whether a non-native ambiguous sound can retune non-native phonetic categories. After a brief exposure to an ambiguous British English [l/ɹ] sound, Dutch listeners demonstrated retuning. This retuning was, however, asymmetrical: the non-native listeners seemed to show (more) retuning of the /ɹ/ category than of the /l/ category, suggesting that non-native listeners can retune non-native phonetic categories. This asymmetry is argued to be related to the large phonetic variability of /r/ in both Dutch and English.

Abstract

This article describes and analyses nasal harmony (or spreading of nasality) in Awetí. It first shows generally how sounds in prefixes adapt to nasality or orality of stems, and how nasality in stems also ‘extends’ to the left. With abstract templates we show which phonetically nasal or oral sequences are possible in Awetí (focusing on stops, pre-nasalized stops and nasals) and which phonological analysis is appropriate for account for this regularities. In Awetí, there are intrinsically nasal and oral vowels and ‘neutral’ vowels which adapt phonetically to a following vowel or consonant, as is the case of sonorant consonants. Pre-nasalized stops such as “nt” are nasalized variants of stops, not post-oralized variants of nasals as in Tupí-Guaranian languages. For nasals and stops in syllable coda (end of morphemes), we postulate arqui-phonemes which adapt to the preceding vowel or a following consonant. Finally, using a declarative approach, the analysis formulates ‘rules’ (statements) which account for the ‘behavior’ of nasality in Awetí words, making use of “structured sequences” on both the phonetic and phonological levels. So, each unit (syllable, morpheme, word etc.) on any level has three components, a sequence of segments, a constituent structure (where pre-nasalized stops, like diphthongs, correspond to two segments), and an intonation structure. The statements describe which phonetic variants can be combined (concatenated) with which other variants, depending on their nasality or orality.

Abstract

Previous studies, including Duffield and Matsuo (2001; 2002; 2009), have demonstrated second language learners’ overall sensitivity to a parallelism constraint governing English VP-ellipsis constructions: like native speakers (NS), advanced Dutch, Spanish and Japanese learners of English reliably prefer ellipsis clauses with structurally parallel antecedents over those with non-parallel antecedents. However, these studies also suggest that, in contrast to English native speakers, L2 learners’ sensitivity to parallelism is strongly influenced by other non-syntactic formal factors, such that the constraint applies in a comparatively restricted range of construction-specific contexts. This article reports a set of follow-up experiments — from both computer-based as well as more traditional acceptability judgement tasks — that systematically manipulates these other factors. Convergent results from these tasks confirm a qualitative difference in the judgement patterns of the two groups, as well as important differences between theoreticians’ judgements and those of typical native speakers. We consider the implications of these findings for theories of ultimate attainment in second language acquisition (SLA), as well as for current theoretical accounts of ellipsis.

Abstract

This paper examines the Papuan languages of Island Melanesia, with a view to considering their typological similarities and differences. The East Papuan languages are thought to be the descendants of the languages spoken by the original inhabitants of Island Melanesia, who arrived in the area up to 50,000 years ago. The Oceanic Austronesian languages are thought to have come into the area with the Lapita peoples 3,500 years ago. With this historical backdrop in view, our paper seeks to investigate the linguistic relationships between the scattered Papuan languages of Island Melanesia. To do this, we survey various structural features, including syntactic patterns such as constituent order in clauses and noun phrases and other features of clause structure, paradigmatic structures of pronouns, and the structure of verbal morphology. In particular, we seek to discern similarities between the languages that might call for closer investigation, with a view to establishing genetic relatedness between some or all of the languages. In addition, in examining structural relationships between languages, we aim to discover whether it is possible to distinguish between original Papuan elements and diffused Austronesian elements of these languages. As this is a vast task, our paper aims merely to lay the groundwork for investigation into these and related questions.

Abstract

This paper shows that despite evidence of structural convergence between some of the Austronesian and non-Austronesian (Papuan) languages of Island Melanesia, statistical methods can detect two independent genealogical signals derived from linguistic structural features. Earlier work by the author and others has presented a maximum parsimony analysis which gave evidence for a genealogical connection between the non-Austronesian languages of island Melanesia. Using the same data set, this paper demonstrates for the non-statistician the application of more sophisticated statistical techniques—including Bayesian methods of phylogenetic inference, and shows that the evidence for common ancestry is if anything stronger than originally supposed.

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

The Core Trustworthy Data Repository Requirements were developed by the DSA–WDS Partnership Working Group on Repository Audit and Certification, a Working Group (WG) of the Research Data Alliance . The goal of the effort was to create a set of harmonized common requirements for certification of repositories at the core level, drawing from criteria already put in place by the Data Seal of Approval (DSA: www.datasealofapproval.org) and the ICSU World Data System (ICSU-WDS: https://www.icsu-wds.org/services/certification). An additional goal of the project was to develop common procedures to be implemented by both DSA and ICSU-WDS. Ultimately, the DSA and ICSU-WDS plan to collaborate on a global framework for repository certification that moves from the core to the extended (nestor-Seal DIN 31644), to the formal (ISO 16363) level.

Abstract

We investigated the roles of top-down task set and bottom-up stimulus salience for feature-specific attentional capture. ERPs and behavioural performance were measured in two experiments where spatially nonpredictive cues preceded visual search arrays that included a colour-defined target. When cue arrays contained a target-colour singleton, behavioural spatial cueing effects were accompanied by a cue-induced N2pc component, indicative of attentional capture. Behavioural cueing effects and N2pc components were only minimally attenuated for non-singleton relative to singleton target-colour cues, demonstrating that top-down task set has a much greater impact on attentional capture than bottom-up salience. For nontarget-colour singleton cues, no N2pc was triggered, but an anterior N2 component indicative of top-down inhibition was observed. In Experiment 2, these cues produced an inverted behavioural cueing effect, which was accompanied by a delayed N2pc to targets presented at cued locations. These results suggest that perceptually salient visual stimuli without task-relevant features trigger a transient location-specific inhibition process that prevents attentional capture, but delays the selection of subsequent target events.

Abstract

Migraine is a common disabling neurovascular brain disorder typically characterised by attacks of severe headache and associated with autonomic and neurological symptoms. Migraine is caused by an interplay of genetic and environmental factors. Genome-wide association studies (GWAS) have identified over a dozen genetic loci associated with migraine. Here, we integrated migraine GWAS data with high-resolution spatial gene expression data of normal adult brains from the Allen Human Brain Atlas to identify specific brain regions and molecular pathways that are possibly involved in migraine pathophysiology. To this end, we used two complementary methods. In GWAS data from 23,285 migraine cases and 95,425 controls, we first studied modules of co-expressed genes that were calculated based on human brain expression data for enrichment of genes that showed association with migraine. Enrichment of a migraine GWAS signal was found for five modules that suggest involvement in migraine pathophysiology of: (i) neurotransmission, protein catabolism and mitochondria in the cortex; (ii) transcription regulation in the cortex and cerebellum; and (iii) oligodendrocytes and mitochondria in subcortical areas. Second, we used the high-confidence genes from the migraine GWAS as a basis to construct local migraine-related co-expression gene networks. Signatures of all brain regions and pathways that were prominent in the first method also surfaced in the second method, thus providing support that these brain regions and pathways are indeed involved in migraine pathophysiology.

Abstract

Migraine is a common episodic brain disorder characterized by recurrent attacks of severe unilateral headache and additional neurological symptoms. Two main migraine types can be distinguished based on the presence of aura symptoms that can accompany the headache: migraine with aura and migraine without aura. Multiple genetic and environmental factors confer disease susceptibility. Recent genome-wide association studies (GWAS) indicate that migraine susceptibility genes are involved in various pathways, including neurotransmission, which have already been implicated in genetic studies of monogenic familial hemiplegic migraine, a subtype of migraine with aura. Methods To further explore the genetic background of migraine, we performed a gene set analysis of migraine GWAS data of 4954 clinic-based patients with migraine, as well as 13,390 controls. Curated sets of synaptic genes and sets of genes predominantly expressed in three glial cell types (astrocytes, microglia and oligodendrocytes) were investigated. Discussion Our results show that gene sets containing astrocyte- and oligodendrocyte-related genes are associated with migraine, which is especially true for gene sets involved in protein modification and signal transduction. Observed differences between migraine with aura and migraine without aura indicate that both migraine types, at least in part, seem to have a different genetic background.

Abstract

It has been proposed that two amino acid substitutions in the transcription factor FOXP2 have been positively selected during human evolution due to effects on aspects of speech and language. Here, we introduce these substitutions into the endogenous Foxp2 gene of mice. Although these mice are generally healthy, they have qualitatively different ultrasonic vocalizations, decreased exploratory behavior and decreased dopamine concentrations in the brain suggesting that the humanized Foxp2 allele affects basal ganglia. In the striatum, a part of the basal ganglia affected in humans with a speech deficit due to a nonfunctional FOXP2 allele, we find that medium spiny neurons have increased dendrite lengths and increased synaptic plasticity. Since mice carrying one nonfunctional Foxp2 allele show opposite effects, this suggests that alterations in cortico-basal ganglia circuits might have been important for the evolution of speech and language in humans.

Abstract

Language is a uniquely human trait likely to have been a prerequisite for the development of human culture. The ability to develop articulate speech relies on capabilities, such as fine control of the larynx and mouth, that are absent in chimpanzees and other great apes. FOXP2 is the first gene relevant to the human ability to develop language. A point mutation in FOXP2 co-segregates with a disorder in a family in which half of the members have severe articulation difficulties accompanied by linguistic and grammatical impairment. This gene is disrupted by translocation in an unrelated individual who has a similar disorder. Thus, two functional copies of FOXP2 seem to be required for acquisition of normal spoken language. We sequenced the complementary DNAs that encode the FOXP2 protein in the chimpanzee, gorilla, orang-utan, rhesus macaque and mouse, and compared them with the human cDNA. We also investigated intraspecific variation of the human FOXP2 gene. Here we show that human FOXP2 contains changes in amino-acid coding and a pattern of nucleotide polymorphism, which strongly suggest that this gene has been the target of selection during recent human evolution.

Abstract

Investigation of the emotions entails reference to words and expressions conventionally used for the description of emotion experience. Important methodological issues arise for emotion researchers, and the issues are of similarly central concern in linguistic semantics more generally. I argue that superficial and/or inconsistent description of linguistic meaning can have seriously misleading results. This paper is firstly a critique of standards in emotion research for its tendency to underrate and ill-understand linguistic semantics. It is secondly a critique of standards in some approaches to linguistic semantics itself. Two major problems occur. The first is failure to distinguish between conceptually distinct meanings of single words, neglecting the well-established fact that a single phonological string can signify more than one conceptual category (i.e., that words can be polysemous). The second error involves failure to distinguish between two kinds of secondary uses of words: (1) those which are truly active “online” extensions, and (2) those which are conventionalised secondary meanings and not active (qua “extensions”) at all. These semantic considerations are crucial to conclusions one may draw about cognition and conceptualisation based on linguistic evidence.

Abstract

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

Abstract

This article argues that it is not possible to establish distinctions between 'Lao', 'Thai', and 'Isan' as seperate languages or dialects by appealing to objective criteria. 'Lao', 'Thai', and 'Isan' are conceived linguistics varieties, and the ground-level reality reveals a great deal of variation, much of it not coinciding with the geographical boundaries of the 'Laos', 'Isan', and 'non-Isan Thailand' areas. Those who promote 'Lao', 'Thai', and/or 'Isan' as distinct linguistic varieties have subjective (e.g. political and/or sentimental) reasons for doing so. Objective linguistic criteria are not sufficient

Abstract

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

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

The approach to pragmatics explored in this article focuses on elements of social interaction which are of universal relevance, and which may provide bases for a comparative approach. The discussion is anchored by reference to a fragment of conversation from a video-recording of Lao speakers during a home visit in rural Laos. The following points are discussed. First, an understanding of the full richness of context is indispensable for a proper understanding of any interaction. Second, human relationships are a primary locus of social organization, and as such constitute a key focus for pragmatics. Third, human social intelligence forms a universal cognitive under-carriage for interaction, and requires careful cross-cultural study. Fourth, a neo-Peircean framework for a general understanding of semiotic processes gives us a way of stepping away from language as our basic analytical frame. It is argued that in order to get a grip on pragmatics across human groups, we need to take a comparative approach in the biological sense—i.e. with reference to other species as well. From this perspective, human pragmatics is about using semiotic resources to try to meet goals in the realm of social relationships.

Abstract

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

Abstract

Human actions in the social world – like greeting, requesting, complaining, accusing, asking, confirming, etc. – are recognised through the interpretation of signs. Language is where much of the action is, but gesture, facial expression and other bodily actions matter as well. The goal of this task is to establish a maximally rich description of a representative, good quality piece of conversational interaction, which will serve as a reference point for comparative exploration of the status of social actions and their formulation across language

Abstract

This article addresses the recognition of reduced word forms, which are frequent in casual speech. We describe two experiments on Dutch showing that listeners only recognize highly reduced forms well when these forms are presented in their full context and that the probability that a listener recognizes a word form in limited context is strongly correlated with the degree of reduction of the form. Moreover, we show that the effect of degree of reduction can only partly be interpreted as the effect of the intelligibility of the acoustic signal, which is negatively correlated with degree of reduction. We discuss the consequences of our findings for models of spoken word recognition and especially for the role that storage plays in these models.

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

Amsterdam klinkt in informele gesprekken vaak als Amsdam en Rotterdam als Rodam, zonder dat de meeste moedertaalsprekers zich daar bewust van zijn. In alledaagse situaties valt een aanzienlijk deel van de klanken weg. Daarnaast worden veel klanken zwakker gearticuleerd (bijvoorbeeld een d als een j, als de mond niet helemaal afgesloten wordt). Het lijkt waarschijnlijk dat deze half uitgesproken woorden een probleem vormen voor tweedetaalleerders. Gereduceerde vormen kunnen immers sterk afwijken van de vormen die deze leerders geleerd hebben. Of dit werkelijk zo is, hebben de auteurs onderzocht in twee studies. Voordat ze deze twee studies bespreken, vertellen ze eerst kort iets over de verschillende typen reducties die voorkomen.

Abstract

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

Abstract

Talk of linguistic universals has given cognitive scientists the impression that languages are all built to a common pattern. In fact, there are vanishingly few universals of language in the direct sense that all languages exhibit them. Instead, diversity can be found at almost every level of linguistic organization. This fundamentally changes the object of enquiry from a cognitive science perspective. This target article summarizes decades of cross-linguistic work by typologists and descriptive linguists, showing just how few and unprofound the universal characteristics of language are, once we honestly confront the diversity offered to us by the world's 6,000 to 8,000 languages. After surveying the various uses of “universal,” we illustrate the ways languages vary radically in sound, meaning, and syntactic organization, and then we examine in more detail the core grammatical machinery of recursion, constituency, and grammatical relations. Although there are significant recurrent patterns in organization, these are better explained as stable engineering solutions satisfying multiple design constraints, reflecting both cultural-historical factors and the constraints of human cognition.

Abstract

Our response takes advantage of the wide-ranging commentary to clarify some aspects of our original proposal and augment others. We argue against the generative critics of our coevolutionary program for the language sciences, defend the use of close-to-surface models as minimizing crosslinguistic data distortion, and stress the growing role of stochastic simulations in making generalized historical accounts testable. These methods lead the search for general principles away from idealized representations and towards selective processes. Putting cultural evolution central in understanding language diversity makes learning fundamental in the cognition of language: increasingly powerful models of general learning, paired with channelled caregiver input, seem set to manage language acquisition without recourse to any innate “universal grammar.” Understanding why human language has no clear parallels in the animal world requires a cross-species perspective: crucial ingredients are vocal learning (for which there are clear non-primate parallels) and an intentionattributing cognitive infrastructure that provides a universal base for language evolution. We conclude by situating linguistic diversity within a broader trend towards understanding human cognition through the study of variation in, for example, human genetics, neurocognition, and psycholinguistic processing.

Abstract

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

Abstract

Daniel Everett has spent his career in the Amazon, challenging some fundamental ideas about language and thought. Asifa Majid and Jon Sutton pose the questions

Abstract

We make the case that, contra standard assumption in linguistic theory, the sound systems of human languages are adapted to their environment. While not conclusive, this plausible case rests on several points discussed in this work: First, human behavior is generally adaptive and the assumption that this characteristic does not extend to linguistic structure is empirically unsubstantiated. Second, animal communication systems are well known to be adaptive within species across a variety of phyla and taxa. Third, research in laryngology demonstrates clearly that ambient desiccation impacts the performance of the human vocal cords. The latter point motivates a clear, testable hypothesis with respect to the synchronic global distribution of language types. Fourth, this hypothesis is supported in our own previous work, and here we discuss new approaches being developed to further explore the hypothesis. We conclude by suggesting that the time has come to more substantively examine the possibility that linguistic sound systems are adapted to their physical ecology

Abstract

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

Abstract

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

Abstract

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

Abstract

This chapter summarizes the extensive discussions that took place during the Forum as well as the subsequent months thereafter. It assesses current understanding of the neuronal mechanisms that underlie syntactic structure and processing.... It is posited that to understand the neurobiology of syntax, it might be worthwhile to shift the balance from comprehension to syntactic encoding in language production

Abstract

Individuals with heterozygous 16p11.2 deletions reportedly suffer from a variety of difficulties with speech and language. Indeed, recent copy-number variant screens of children with childhood apraxia of speech (CAS), a specific and rare motor speech disorder, have identified three unrelated individuals with 16p11.2 deletions. However, the nature and prevalence of speech and language disorders in general, and CAS in particular, is unknown for individuals with 16p11.2 deletions. Here we took a genotype-first approach, conducting detailed and systematic characterization of speech abilities in a group of 11 unrelated children ascertained on the basis of 16p11.2 deletions. To obtain the most precise and replicable phenotyping, we included tasks that are highly diagnostic for CAS, and we tested children under the age of 18 years, an age group where CAS has been best characterized. Two individuals were largely nonverbal, preventing detailed speech analysis, whereas the remaining nine met the standard accepted diagnostic criteria for CAS. These results link 16p11.2 deletions to a highly penetrant form of CAS. Our findings underline the need for further precise characterization of speech and language profiles in larger groups of affected individuals, which will also enhance our understanding of how genetic pathways contribute to human communication disorders.

Abstract

In this study, we investigate whether language and music share cognitive resources for structural processing. We report an experiment that used sung materials and manipulated linguistic complexity (subject-extracted relative clauses, object-extracted relative clauses) and musical complexity (in-key critical note, out-of-key critical note, auditory anomaly on the critical note involving a loudness increase). The auditory-anomaly manipulation was included in order to test whether the difference between in-key and out-of-key conditions might be due to any salient, unexpected acoustic event. The critical dependent measure involved comprehension accuracies to questions about the propositional content of the sentences asked at the end of each trial. The results revealed an interaction between linguistic and musical complexity such that the difference between the subject- and object-extracted relative clause conditions was larger in the out-of-key condition than in the in-key and auditory-anomaly conditions. These results provide evidence for an overlap in structural processing between language and music.

Abstract

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

Abstract

Across a wide range of animal taxa, prosodic modulation of the voice can express emotional information and is used to coordinate vocal interactions between multiple individuals. Within a comparative approach to animal communication systems, I hypothesize that the ability for emotional and interactional prosody (EIP) paved the way for the evolution of linguistic prosody – and perhaps also of music, continuing to play a vital role in the acquisition of language. In support of this hypothesis, I review three research fields: (i) empirical studies on the adaptive value of EIP in non-human primates, mammals, songbirds, anurans, and insects; (ii) the beneficial effects of EIP in scaffolding language learning and social development in human infants; (iii) the cognitive relationship between linguistic prosody and the ability for music, which has often been identified as the evolutionary precursor of language.

Abstract

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

Abstract

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

Abstract

The rise of genomic technologies has yielded exciting new routes for studying the biological foundations of language. Researchers have begun to identify genes implicated in neurodevelopmental disorders that disrupt speech and language skills. This chapter illustrates how such work can provide powerful entry points into the critical neural pathways using FOXP2 as an example. Rare mutations of this gene cause problems with learning to sequence mouth movements during speech, accompanied by wide-ranging impairments in language production and comprehension. FOXP2 encodes a regulatory protein, a hub in a network of other genes, several of which have also been associated with language-related impairments. Versions of FOXP2 are found in similar form in many vertebrate species; indeed, studies of animals and birds suggest conserved roles in the development and plasticity of certain sets of neural circuits. Thus, the contributions of this gene to human speech and language involve modifications of evolutionarily ancient functions.

Abstract

Developmental dyslexia, a specific impairment of reading ability despite adequate intelligence and educational opportunity, is one of the most frequent childhood disorders. Since the first documented cases at the beginning of the last century, it has become increasingly apparent that the reading problems of people with dyslexia form part of a heritable neurobiological syndrome. As for most cognitive and behavioural traits, phenotypic definition is fraught with difficulties and the genetic basis is complex, making the isolation of genetic risk factors a formidable challenge. Against such a background, it is notable that several recent studies have reported the localization of genes that influence dyslexia and other language-related traits. These investigations exploit novel research approaches that are relevant to many areas of human neurogenetics.

Abstract

Rare mutations of the FOXP2 transcription factor gene cause a monogenic syndrome characterized by impaired speech development and linguistic deficits. Recent genomic investigations indicate that its downstream neural targets make broader impacts on common language impairments, bridging clinically distinct disorders. Moreover, the striking conservation of both FoxP2 sequence and neural expression in different vertebrates facilitates the use of animal models to study ancestral pathways that have been recruited towards human speech and language. Intriguingly, reduced FoxP2 dosage yields abnormal synaptic plasticity and impaired motor-skill learning in mice, and disrupts vocal learning in songbirds. Converging data indicate that Foxp2 is important for modulating the plasticity of relevant neural circuits. This body of research represents the first functional genetic forays into neural mechanisms contributing to human spoken language.

Abstract

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

Abstract

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

Abstract

Systematic investigations into the role of semantics in the speech production process have remained elusive. This special issue aims at moving forward toward a more detailed account of how precisely conceptual information is used to access the lexicon in speaking and what corresponding format of conceptual representations needs to be assumed. The studies presented in this volume investigated effects of conceptual processing on different processing stages of language production, including sentence formulation, lemma selection, and word form access.

Abstract

In the Cha’palaa language of Ecuador the main-clause use of the otherwise non-finite morpheme -ba can be accounted for by a specific interactive practice: the ‘counter-assertion’ of statement or implicature of a previous conversational turn. Attention to the ways in which different constructions are deployed in such recurrent conversational contexts reveals a plausible account for how this type of dependent clause has come to be one of the options for finite clauses. After giving some background on Cha’palaa and placing ba clauses within a larger ecology of insubordination constructions in the language, this chapter uses examples from a video corpus of informal conversation to illustrate how interactive data provides answers that may otherwise be elusive for understanding how the different grammatical options for Cha’palaa finite verb constructions have been structured by insubordination

Abstract

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

Abstract

This chapter surveys the available data on Barbacoan languages and their neighbors to explore a case study of switch reference within a single language family and in a situation of areal contact. To the extent possible given the available data, we weigh accounts appealing to common inheritance and areal convergence to ask what combination of factors led to the current state of these languages. We discuss the areal distribution of switch reference systems in the northwest Andean region, the different types of systems and degrees of complexity observed, and scenarios of contact and convergence, particularly in the case of Barbacoan and Ecuadorian Quechua. We then covers each of the Barbacoan languages’ systems (with the exception of Totoró, represented by its close relative Guambiano), identifying limited formal cognates, primarily between closely-related Tsafiki and Cha’palaa, as well as broader functional similarities, particularly in terms of interactions with topic/focus markers. n accounts for the current state of affairs with a complex scenario of areal prevalence of switch reference combined with deep structural family inheritance and formal re-structuring of the systems over time

Abstract

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

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

Genomewide quantitative-trait locus (QTL) linkage analysis was performed using a continuous measure of relative hand skill (PegQ) in a sample of 195 reading-disabled sibling pairs from the United Kingdom. This was the first genomewide screen for any measure related to handedness. The mean PegQ in the sample was equivalent to that of normative data, and PegQ was not correlated with tests of reading ability (correlations between −0.13 and 0.05). Relative hand skill could therefore be considered normal within the sample. A QTL on chromosome 2p11.2-12 yielded strong evidence for linkage to PegQ (empirical P=.00007), and another suggestive QTL on 17p11-q23 was also identified (empirical P=.002). The 2p11.2-12 locus was further analyzed in an independent sample of 143 reading-disabled sibling pairs, and this analysis yielded an empirical P=.13. Relative hand skill therefore is probably a complex multifactorial phenotype with a heterogeneous background, but nevertheless is amenable to QTL-based gene-mapping approaches.

Abstract

The molecular, developmental, and evolutionary bases of human brain asymmetry are almost completely unknown. Genetic linkage and association mapping have pin-pointed a gene called LRRTM1 (leucine-rich repeat transmembrane neuronal 1) that may contribute to variability in human handedness. Here I describe how LRRTM1's involvement in handedness was discovered, and also the latest knowledge of its functions in brain development and disease. The association of LRRTM1 with handedness was derived entirely from the paternally inherited gene, and follow-up analysis of gene expression confirmed that LRRTM1 is one of a small number of genes that are imprinted in the human genome, for which the maternally inherited copy is suppressed. The same variation at LRRTM1 that was associated paternally with mixed-/left-handedness was also over-transmitted paternally to schizophrenic patients in a large family study.
LRRTM1 is expressed in specific regions of the developing and adult forebrain by post-mitotic neurons, and the protein may be involved in axonal trafficking. Thus LRRTM1 has a probable role in neurodevelopment, and its association with handedness suggests that one of its functions may be in establishing or consolidating human brain asymmetry.
LRRTM1 is the first gene for which allelic variation has been associated with human handedness. The genetic data also suggest indirectly that the epigenetic regulation of this gene may yet prove more important than DNA sequence variation for influencing brain development and disease.
Intriguingly, the parent-of-origin activity of LRRTM1 suggests that men and women have had conflicting interests in relation to the outcome of lateralized brain development in their offspring.

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

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

Abstract

Dyslexia, a disorder of reading and spelling, is a heterogeneous neurological syndrome with a complex genetic and environmental aetiology. People with dyslexia differ in their individual profiles across a range of cognitive, physiological, and behavioural measures related to reading disability. Some or all of the subtypes of dyslexia might have partly or wholly distinct genetic causes. An understanding of the role of genetics in dyslexia could help to diagnose and treat susceptible children more effectively and rapidly than is currently possible and in ways that account for their individual disabilities. This knowledge will also give new insights into the neurobiology of reading and language cognition. Genetic linkage analysis has identified regions of the genome that might harbour inherited variants that cause reading disability. In particular, loci on chromosomes 6 and 18 have shown strong and replicable effects on reading abilities. These genomic regions contain tens or hundreds of candidate genes, and studies aimed at the identification of the specific causal genetic variants are underway.

Abstract

Francks et al. (2007) performed a recent study in which the first putative genetic effect on human handedness was identified (the imprinted locus LRRTM1 on human chromosome 2). In this issue of Laterality, Tim Crow and colleagues present a critique of that study. The present paper presents a personal response to that critique which argues that Francks et al. (2007) published a substantial body of evidence implicating LRRTM1 in handedness and schizophrenia. Progress will now be achieved by others trying to validate, refute, or extend those findings, rather than by further armchair discussion.

Abstract

Prior language input is not lost but integrated with the current input. This principle is demonstrated by “reservoir computing”: Untrained recurrent neural networks project input sequences onto a random point in high-dimensional state space. Earlier inputs can be retrieved from this projection, albeit less reliably so as more input is received. The bottleneck is therefore not “Now-or-Never” but “Sooner-is-Better.

Abstract

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

Abstract

Theeffects of spatial filtering in functional magnetic resonance imaging were investigated by reevaluating the data of a previous study of episodic memory encoding at 2 × 2 × 4-mm3 resolution with use of a SPM99 analysis involving a Gaussian kernel of 8-mm full width at half maximum. In addition, a multisubject analysis of activated regions was performed by normalizing the functional images to an approximate Talairach brain atlas. In individual subjects, spatial filtering merged activations in anatomically separated brain regions. Moreover, small foci of activated pixels which originated from veins became blurred and hence indistinguishable from parenchymal responses. The multisubject analysis resulted in activation of the hippocampus proper, a finding which could not be confirmed by the activation maps obtained at high resolution. It is concluded that the validity of multisubject fMRI analyses can be considerably improved by first analyzing individual data sets at optimum resolution to assess the effects of spatial filtering and minimize the risk of signal contamination by macroscopically visible vessels.

Abstract

Do people incrementally incorporate the meaning of quantifier expressions to understand an unfolding sentence? Most previous studies concluded that quantifiers do not immediately influence how a sentence is understood based on the observation that online N400-effects differed from offline plausibility judgments. Those studies, however, used serial visual presentation (SVP), which involves unnatural reading. In the current ERP-experiment, we presented spoken positive and negative quantifier sentences (“Practically all/practically no postmen prefer delivering mail, when the weather is good/bad during the day”). Different from results obtained in a previously reported SVP-study (Nieuwland, 2016) sentence truth-value N400 effects occurred in positive and negative quantifier sentences alike, reflecting fully incremental quantifier comprehension. This suggests that the prosodic information available during spoken language comprehension supports the generation of online predictions for upcoming words and that, at least for quantifier sentences, comprehension of spoken language may proceed more incrementally than comprehension during SVP reading.