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

In 2001, a point mutation in the forkhead box P2 (FOXP2) coding sequence was identified as the basis of an inherited speech and language disorder suffered by members of the family known as "KE." This mini-symposium review focuses on recent findings and research-in-progress, primarily from five laboratories. Each aims at capitalizing on the FOXP2 discovery to build a neurobiological bridge between molecule and phenotype. Below, we describe genetic through behavioral techniques used currently to investigate FoxP2 in birds, rodents, and humans for discovery of the neural bases of vocal learning and language.

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

Utilization of computer tools in linguistic research has gained importance with the maturation of media frameworks for the handling of digital audio and video. The increased use of these tools in gesture, sign language and multimodal interaction studies has led to stronger requirements on the flexibility, the efficiency and in particular the time accuracy of annotation tools. This paper describes the efforts made to make ELAN a tool that meets these requirements, with special attention to the developments in the area of time accuracy. In subsequent sections an overview will be given of other enhancements in the latest versions of ELAN, that make it a useful tool in multimodality research.

Abstract

A number of serious reasons will convince an increasing amount of researchers to store their relevant material in centers which we will call "language resource archives". They combine the duty of taking care of long-term preservation as well as the task to give access to their material to different user groups. Access here is meant in the sense that an active interaction with the data will be made possible to support the integration of new data, new versions or commentaries of all sort. Modern Language Resource Archives will have to adhere to a number of basic principles to fulfill all requirements and they will have to be involved in federations to create joint language resource domains making it even more simple for the researchers to access the data. This paper makes an attempt to formulate the essential pillars language resource archives have to adhere to.

Abstract

This auditory lexical decision study shows that cohort entropies, conditional root uniqueness points, and morphological family size all contribute to the dynamics of the auditory comprehension of prefixed words. Three entropy measures calculated for different positions in the stem of Dutch prefixed words revealed facilitation for higher entropies, except at the point of disambiguation, where we observed inhibition. Morphological family size was also facilitatory, but only for prefixed words in which the conditional root uniqueness point coincided with the conventional uniqueness point. For words with early conditional disambiguation, in contrast, only the morphologically related words that were onset-aligned with the target word facilitated lexical decision.

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.