Publications

Abstract

Over 15% of probands in a large cohort of more than 1500 inherited retinal degeneration patients present with a clinical diagnosis of Stargardt disease (STGD1), a recessive form of macular dystrophy caused by biallelic variants in the ABCA4 gene. Participants were clinically examined and underwent either target capture sequencing of the exons and some pathogenic intronic regions of ABCA4, sequencing of the entire ABCA4 gene or whole genome sequencing. ABCA4 c.4539 + 2028C > T, p.[= ,Arg1514Leufs*36] is a pathogenic deep intronic variant that results in a retina-specific 345-nucleotide pseudoexon inclusion. Through analysis of the Irish STGD1 cohort, 25 individuals across 18 pedigrees harbour ABCA4 c.4539 + 2028C > T and another pathogenic variant. This includes, to the best of our knowledge, the only two homozygous patients identified to date. This provides important evidence of variant pathogenicity for this deep intronic variant, highlighting the value of homozygotes for variant interpretation. 15 other heterozygous incidents of this variant in patients have been reported globally, indicating significant enrichment in the Irish population. We provide detailed genetic and clinical characterization of these patients, illustrating that ABCA4 c.4539 + 2028C > T is a variant of mild to intermediate severity. These results have important implications for unresolved STGD1 patients globally with approximately 10% of the population in some western countries claiming Irish heritage. This study exemplifies that detection and characterization of founder variants is a diagnostic imperative.

Abstract

Participants were unknowingly exposed to complex regularities in a working memory task. The existence of implicit knowledge was subsequently inferred from a preference for stimuli with similar grammatical regularities. Several affective traits have been shown to influence
AGL performance positively, many of which are related to a tendency for automatic responding. We therefore tested whether the mindfulness trait predicted a reduction of grammatically congruent preferences, and used emotional primes to explore the influence of affect. Mindfulness was shown to correlate negatively with grammatically congruent responses. Negative primes were shown to result in faster and more negative evaluations.
We conclude that grammatically congruent preference ratings rely on habitual responses, and that our findings provide empirical evidence for the non-reactive disposition of the mindfulness trait.

Abstract

We investigated how the strength of a foreign accent and varying types of experience with foreign-accented speech influence the recognition of accented words. In Experiment 1, native Dutch listeners with limited or extensive prior experience with German-accented Dutch completed a cross-modal priming experiment with strongly, medium, and weakly accented words. Participants with limited experience were primed by the medium and weakly accented words, but not by the strongly accented words. Participants with extensive experience were primed by all accent types. In Experiments 2 and 3, Dutch listeners with limited experience listened to a short story before doing the cross-modal priming task. In Experiment 2, the story was spoken by the priming task speaker and either contained strongly accented words or did not. Strongly accented exposure led to immediate priming by novel strongly accented words, while exposure to the speaker without strongly accented tokens led to priming only in the experiment’s second half. In Experiment 3, listeners listened to the story with strongly accented words spoken by a different German-accented speaker. Listeners were primed by the strongly accented words, but again only in the experiment’s second half. Together, these results show that adaptation to foreign-accented speech is rapid but depends on accent strength and on listener familiarity with those strongly accented words.

Abstract

It has been suggested that individual variation in vowel compactness of the native language (L1) and the distance between L1 vowels and vowels in the second language (L2) predict successful L2 vowel acquisition. Moreover, general articulatory skills have been proposed to account for variation in vowel compactness. In the present work, we conceptually replicate a previous study to test these hypotheses with a large sample size, a new language pair and a
new vowel pair. We find evidence that individual variation in L1 vowel compactness has opposing effects for two different vowels. We do not find evidence that individual variation in L1 compactness
is explained by general articulatory skills. We conclude that the results found previously might be specific to sub-groups of L2 learners and/or specific sub-sets of vowel pairs.

Abstract

The ISOcat Data Category Registry provides a community computing environment for creating, storing, retrieving, harmonizing and standardizing data category specifications (DCs), used to register linguistic terms used in various fields. This chapter recounts the history of DC documentation in TC 37, beginning from paper-based lists created for lexicographers and terminologists and progressing to the development of a web-based resource for a much broader range of users. While describing the considerable strides that have been made to collect a very large comprehensive collection of DCs, it also outlines difficulties that have arisen in developing a fully operative web-based computing environment for achieving consensus on data category names, definitions, and selections and describes efforts to overcome some of the present shortcomings and to establish positive working procedures designed to engage a wide range of people involved in the creation of language resources.

Abstract

Im ISOcat-Datenkategorie-Register (Data Category Registry, www.isocat.org) des Technischen Komitees ISO/TC 37 (Terminology and other language and content resources) werden Feldnamen und Werte für Sprachressourcen beschrieben. Empfohlene Feldnamen und zuverlässige Definitionen sollen dazu beitragen, dass Sprachdaten unabhängig von Anwendungen, Plattformen und Communities of Practice (CoP) wiederverwendet werden können. Datenkategorie-Gruppen (Data Category Selections) können eingesehen, ausgedruckt, exportiert und nach kostenloser Registrierung auch neu erstellt werden.

Abstract

This article presents data on cardinal numerals in three sign languages from small-scale communities with hereditary deafness. The unusual features found in these data considerably extend the known range of typological variety across sign languages. Some features, such as non-decimal numeral bases, are unattested in sign languages, but familiar from spoken languages, while others, such as subtractive sub-systems, are rare in sign and speech. We conclude that for a complete typological appraisal of a domain, an approach to cross-modal typology, which includes a typologically diverse range of sign languages in addition to spoken languages, is both instructive and feasible.

Abstract

This article reports on results from a broad crosslinguistic study based on data from thirty-five signed languages around the world. The study is the first of its kind, and the typological generalizations presented here cover the domain of interrogative structures as they appear across a wide range of geographically and genetically distinct signed languages. Manual and nonmanual ways of marking basic types of questions in signed languages are investigated. As a result, it becomes clear that the range of crosslinguistic variation is extensive for some subparameters, such as the structure of question-word paradigms, while other parameters, such as the use of nonmanual expressions in questions, show more similarities across signed languages. Finally, it is instructive to compare the findings from signed language typology to relevant data from spoken languages at a more abstract, crossmodality level.

Abstract

This article presents a typology of negative constructions across a substantial number of sign languages from around the globe. After situating the topic within the wider context of linguistic typology, the main negation strategies found across sign languages are described. Nonmanual negation includes the use of head movements and facial expressions for negation and is of great importance in sign languages as well as particularly interesting from a typological point of view. As far as manual signs are concerned, independent negative particles represent the dominant strategy, but there are also instances of irregular negation in most sign languages. Irregular negatives may take the form of suppletion, cliticisation, affixing, or internal modification of a sign. The results of the study lead to interesting generalisations about similarities and differences between negatives in signed and spoken languages.

Abstract

In face-to-face communication, multimodal cues such as prosody, gestures, and mouth movements can play a crucial role in language processing. While several studies have addressed how these cues contribute to native (L1) language processing, their impact on non-native (L2) comprehension is largely unknown. Comprehension of naturalistic language by L2 comprehenders may be supported by the presence of (at least some) multimodal cues, as these provide correlated and convergent information that may aid linguistic processing. However, it is also the case that multimodal cues may be less used by L2 comprehenders because linguistic processing is more demanding than for L1 comprehenders, leaving more limited resources for the processing of multimodal cues. In this study, we investigated how L2 comprehenders use multimodal cues in naturalistic stimuli (while participants watched videos of a speaker), as measured by electrophysiological responses (N400) to words, and whether there are differences between L1 and L2 comprehenders. We found that prosody, gestures, and informative mouth movements each reduced the N400 in L2, indexing easier comprehension. Nevertheless, L2 participants showed weaker effects for each cue compared to L1 comprehenders, with the exception of meaningful gestures and informative mouth movements. These results show that L2 comprehenders focus on specific multimodal cues – meaningful gestures that support meaningful interpretation and mouth movements that enhance the acoustic signal – while using multimodal cues to a lesser extent than L1 comprehenders overall.

Abstract

Background: Developmental language disorder (DLD) is a condition that significantly affects children's achievement but has been understudied. We aim to estimate the prevalence of DLD in Shanghai, compare the co-occurrence of difficulties between children with DLD and those with typical development (TD), and investigate the early risk factors for DLD.

Methods: We estimated DLD prevalence using data from a population-based survey with a cluster random sampling design in Shanghai, China. A subsample of children (aged 5-6 years) received an onsite evaluation, and each child was categorized as TD or DLD. The proportions of children with socio-emotional behavior (SEB) difficulties, low non-verbal IQ (NVIQ), and poor school readiness were calculated among children with TD and DLD. We used multiple imputation to address the missing values of risk factors. Univariate and multivariate regression models adjusted with sampling weights were used to estimate the correlation of each risk factor with DLD.

Findings: Of 1082 children who were approached for the onsite evaluation, 974 (90.0%) completed the language ability assessments, of whom 74 met the criteria for DLD, resulting in a prevalence of 8.5% (95% CI 6.3-11.5) when adjusted with sampling weights. Compared with TD children, children with DLD had higher rates of concurrent difficulties, including SEB (total difficulties score at-risk: 156 [17.3%] of 900 TD vs. 28 [37.8%] of 74 DLD, p < 0.0001), low NVIQ (3 [0.3%] of 900 TD vs. 8 [10.8%] of 74 DLD, p < 0.0001), and poor school readiness (71 [7.9%] of 900 TD vs. 13 [17.6%] of 74 DLD, p = 0.0040). After accounting for all other risk factors, a higher risk of DLD was associated with a lack of parent-child interaction diversity (adjusted odds ratio [aOR] = 3.08, 95% CI = 1.29-7.37; p = 0.012) and lower kindergarten levels (compared to demonstration and first level: third level (aOR = 6.15, 95% CI = 1.92-19.63; p = 0.0020)).

Interpretation: The prevalence of DLD and its co-occurrence with other difficulties suggest the need for further attention. Family and kindergarten factors were found to contribute to DLD, suggesting that multi-sector coordinated efforts are needed to better identify and serve DLD populations at home, in schools, and in clinical settings.

Funding: The study was supported by Shanghai Municipal Education Commission (No. 2022you1-2, D1502), the Innovative Research Team of High-level Local Universities in Shanghai (No. SHSMU-ZDCX20211900), Shanghai Municipal Health Commission (No.GWV-10.1-XK07), and the National Key Research and Development Program of China (No. 2022YFC2705201).

Abstract

Brain oscillations are prevalent in all species and are involved in numerous perceptual operations. α oscillations are thought to facilitate processing through the inhibition of task-irrelevant networks, while β oscillations are linked to the putative reactivation of content representations. Can the proposed functional role of α and β oscillations be generalized from low-level operations to higher-level cognitive processes? Here we address this question focusing on naturalistic spoken language comprehension. Twenty-two (18 female) Dutch native speakers listened to stories in Dutch and French while MEG was recorded. We used dependency parsing to identify three dependency states at each word: the number of (1) newly opened dependencies, (2) dependencies that remained open, and (3) resolved dependencies. We then constructed forward models to predict α and β power from the dependency features. Results showed that dependency features predict α and β power in language-related regions beyond low-level linguistic features. Left temporal, fundamental language regions are involved in language comprehension in α, while frontal and parietal, higher-order language regions, and motor regions are involved in β. Critically, α- and β-band dynamics seem to subserve language comprehension tapping into syntactic structure building and semantic composition by providing low-level mechanistic operations for inhibition and reactivation processes. Because of the temporal similarity of the α-β responses, their potential functional dissociation remains to be elucidated. Overall, this study sheds light on the role of α and β oscillations during naturalistic spoken language comprehension, providing evidence for the generalizability of these dynamics from perceptual to complex linguistic processes.

Abstract

Research into the neural foundation of perception asserts a model where top-down predictions modulate the bottom-up processing of sensory input. Despite becoming increasingly influential in cognitive neuroscience, the precise account of this predictive coding framework remains debated. In this study, we aim to contribute to this debate by investigating how predictions about prosody facilitate speech perception, and to shed light especially on lexical access influenced by simultaneous predictions in different domains, inter alia, prosodic and semantic. Using a passive auditory oddball paradigm, we examined neural responses to prosodic changes, leading to a semantic change as in Dutch nouns canon [ˈkaːnɔn] ‘cannon’ vs kanon [kaːˈnɔn] ‘canon’, and used acoustically identical pseudowords as controls. Results from twenty-eight native speakers of Dutch (age range 18–32 years) indicated an enhanced P50/N100 complex to prosodic change in pseudowords as well as an MMN response to both words and pseudowords. The enhanced P50/N100 response to pseudowords is claimed to indicate that all relevant auditory information is still processed by the brain, whereas the reduced response to words might reflect the suppression of information that has already been encoded. The MMN response to pseudowords and words, on the other hand, is best justified by the unification of previously established prosodic representations with sensory and semantic input respectively. This pattern of results is in line with the predictive coding framework acting on multiple levels and is of crucial importance to indicate that predictions about linguistic prosodic information are utilized by the brain as early as 50 ms.

Abstract

Language is used in communicative contexts to identify and successfully transmit new information that should be later remembered. In three studies, we used question–answer pairs, a naturalistic device for focusing information, to examine how properties of conversations inform later item memory. In Experiment 1, participants viewed three pictures while listening to a recorded question–answer exchange between two people about the locations of two of the displayed pictures. In a memory recognition test conducted online a day later, participants recognized the names of pictures that served as answers more accurately than the names of pictures that appeared as questions. This suggests that this type of focus indeed boosts memory. In Experiment 2, participants listened to the same items embedded in declarative sentences. There was a reduced memory benefit for the second item, confirming the role of linguistic focus on later memory beyond a simple serial-position effect. In Experiment 3, two participants asked and answered the same questions about objects in a dialogue. Here, answers continued to receive a memory benefit, and this focus effect was accentuated by language production such that information-seekers remembered the answers to their questions better than information-givers remembered the questions they had been asked. Combined, these studies show how people’s memory for conversation is modulated by the referential status of the items mentioned and by the speaker’s roles of the conversation participants.

Abstract

Psycholinguistic research has typically portrayed speech production as a relatively automatic process. This is because when errors are made, they occur as seldom as one in every thousand words we utter. However, it has long been recognised that we need some form of control over what we are currently saying and what we plan to say. This capacity to both monitor our inner speech and self-correct our speech output has often been assumed to be a property of the language comprehension system. More recently, it has been demonstrated that speech production benefits from interfacing with more general cognitive processes such as selective attention, short-term memory (STM) and online response monitoring to resolve potential conflict and successfully produce the output of a verbal plan. The conditions and levels of representation according to which these more general planning, monitoring and control processes are engaged during speech production remain poorly understood. Moreover, there remains a paucity of information about their neural substrates, despite some of the first evidence of more general monitoring having come from electrophysiological studies of error related negativities (ERNs). While aphasic speech errors continue to be a rich source of information, there has been comparatively little research focus on instances of speech repair. The purpose of this Frontiers Research Topic is to provide a forum for researchers to contribute investigations employing behavioural, neuropsychological, electrophysiological, neuroimaging and virtual lesioning techniques. In addition, while the focus of the research topic is on novel findings, we welcome submission of computational simulations, review articles and methods papers.

Abstract

This paper reports on an exploration of the ways in which multiple entities are expressed in Turkish Sign Language (TİD). The (descriptive and quantitative) analyses provided are based on a corpus of both spontaneous data and specifically elicited data, in order to provide as comprehensive an account as possible. We have found several devices in TİD for expression of multiple entities, in particular localization, spatial plural predicate inflection, and a specific form used to express multiple entities that are side by side in the same configuration (not reported for any other sign language to date), as well as numerals and quantifiers. In contrast to some other signed languages, TİD does not appear to have a productive system of plural reduplication. We argue that none of the devices encountered in the TİD data is a genuine plural marking device and that the plural interpretation of multiple entity localizations and plural predicate inflections is a by-product of the use of space to indicate the existence or the involvement in an event of multiple entities.