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Dyslexia and developmental language disorders are important learning difficulties. However, their genetic basis remains poorly understood, and most genetic studies were performed on Europeans. There is a lack of genome-wide association studies (GWAS) on literacy phenotypes of Chinese as a native language and English as a second language (ESL) in a Chinese population. In this study, we conducted GWAS on 34 reading/language-related phenotypes in Hong Kong Chinese bilingual children (including both twins and singletons; total N = 1046). We performed association tests at the single-variant, gene, and pathway levels. In addition, we tested genetic overlap of these phenotypes with other neuropsychiatric disorders, as well as cognitive performance (CP) and educational attainment (EA) using polygenic risk score (PRS) analysis. Totally 5 independent loci (LD-clumped at r2 = 0.01; MAF > 0.05) reached genome-wide significance (p < 5e-08; filtered by imputation quality metric Rsq>0.3 and having at least 2 correlated SNPs (r2 > 0.5) with p < 1e-3). The loci were associated with a range of language/literacy traits such as Chinese vocabulary, character and word reading, and rapid digit naming, as well as English lexical decision. Several SNPs from these loci mapped to genes that were reported to be associated with EA and other neuropsychiatric phenotypes, such as MANEA and PLXNC1. In PRS analysis, EA and CP showed the most consistent and significant polygenic overlap with a variety of language traits, especially English literacy skills. To summarize, this study revealed the genetic basis of Chinese and English abilities in a group of Chinese bilingual children. Further studies are warranted to replicate the findings.
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This study examined the cognitive-linguistic and literacy-related correlates of dyslexia in three Chinese cities and the English word reading and mathematics performances of Chinese children with dyslexia. Chinese children with/without dyslexia were measured with an equivalent test battery of literacy and mathematics in Beijing, Hong Kong, and Taipei. Univariate analysis results suggested that phonological sensitivity distinguished those with and without dyslexia across all three cities in group comparisons. In Taipei and Hong Kong, morphological awareness, delayed copying, and spelling also distinguished the groups. Logistic regression analyses demonstrated that Chinese character reading, as directly compared to Chinese word reading, also distinguished the groups particularly well. In addition, in Beijing and Hong Kong, children with dyslexia performed significantly less well in English word reading than those without dyslexia. In Hong Kong and Taipei, children with dyslexia also had difficulties in mathematics performance. Findings highlight the fundamental importance of some cognitive-linguistic skills for explaining Chinese dyslexia across cultures, the utility of recognizing the individual Chinese character as a foundational unit of analysis in Chinese across cultures, and the generalizability of the comorbidity of both English as a second language (L2) and mathematics with dyslexia in Chinese children in both Beijing and Hong Kong.
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Dislexia , Humanos , Hong Kong , Masculino , Criança , Feminino , Dislexia/fisiopatologia , Taiwan , Leitura , Pequim/epidemiologia , Comparação Transcultural , Desempenho Acadêmico/estatística & dados numéricos , Cognição/fisiologia , Povo Asiático , Alfabetização/estatística & dados numéricos , Multilinguismo , China/epidemiologiaRESUMO
Exercise training prevents age-related decline in muscle function. Targeting epigenetic aging is a promising actionable mechanism and late-life exercise mitigates epigenetic aging in rodent muscle. Whether exercise training can decelerate, or reverse epigenetic aging in humans is unknown. Here, we performed a powerful meta-analysis of the methylome and transcriptome of an unprecedented number of human skeletal muscle samples (n = 3176). We show that: (1) individuals with higher baseline aerobic fitness have younger epigenetic and transcriptomic profiles, (2) exercise training leads to significant shifts of epigenetic and transcriptomic patterns toward a younger profile, and (3) muscle disuse "ages" the transcriptome. Higher fitness levels were associated with attenuated differential methylation and transcription during aging. Furthermore, both epigenetic and transcriptomic profiles shifted toward a younger state after exercise training interventions, while the transcriptome shifted toward an older state after forced muscle disuse. We demonstrate that exercise training targets many of the age-related transcripts and DNA methylation loci to maintain younger methylome and transcriptome profiles, specifically in genes related to muscle structure, metabolism, and mitochondrial function. Our comprehensive analysis will inform future studies aiming to identify the best combination of therapeutics and exercise regimes to optimize longevity.
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Epigenoma , Transcriptoma , Humanos , Transcriptoma/genética , Epigenoma/genética , Músculo Esquelético/metabolismo , Exercício Físico/fisiologia , Perfilação da Expressão GênicaRESUMO
N1 tuning to words, a neural marker of visual word recognition, develops by an interaction between age and ability. The development of N1 tuning to a second learnt print is unclear. The present study examined the joint contribution of age and English reading abilities to N1 amplitude and tuning to English print in Chinese children in Hong Kong. EEG signals were recorded from 179 children (six to nine years old) while they were performing a repetition detection task comprised of different print stimuli measuring three types of tuning, i.e., coarse tuning (real word versus false font), fine tuning (real versus nonword), and lexicality effect (real versus pseudo word). Children were assessed in English word reading accuracy (EWR) and English sub-lexical orthographic knowledge (EOK). Results indicated that coarse tuning decreased with age but increased with EWR and EOK. Fine tuning uniquely increased with EOK, and the lexicality effect increased with EWR. At last, higher EWR was linked to less right-lateralized coarse tuning in younger children. Taken together, the findings support the visual perceptual expertise account in the L2 context, in that N1 coarse tuning, fine tuning, and lexicality effect are driven by skill improvement.
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Eletroencefalografia , Potenciais Evocados , Idioma , Criança , Humanos , Cognição , População do Leste Asiático , LeituraRESUMO
A recent genome-wide association study on dyslexia in 51,800 affected European adults and 1,087,070 controls detected 42 genome-wide significant single nucleotide variants (SNPs). The association between rs2624839 in SEMA3F and reading fluency was replicated in a Chinese cohort. This study explores the genetic overlap between Chinese and English word reading, vocabulary knowledge and spelling, and aims at replicating the association in a unique cohort of bilingual (Chinese-English) Hong Kong Chinese twins. Our result showed an almost complete genetic overlap in vocabulary knowledge (r2 = 0.995), and some genetic overlaps in word reading and spelling (r2 = 0.846, 0.687) across the languages. To investigate the region near rs2624839, we tested proxy SNPs (rs1005678, rs12632110 and rs12494414) at the population level (n = 305-308) and the within-twin level (n = 342-344 [171-172 twin pairs]). All the three SNPs showed significant associations with quantitative Chinese and English vocabulary knowledge (p < 0.05). The strongest association after multiple testing correction was between rs12494414 and English vocabulary knowledge at the within-twin level (p = 0.004). There was a trend of associations with word reading and spelling in English but not in Chinese. Our result suggested that the region near rs2624839 is one of the common genetic factors across English and Chinese vocabulary knowledge and unique factors of English word reading and English spelling in bilingual Chinese twins. A larger sample size is required to validate our findings. Further studies on the relationship between variable expression of SEMA3F, which is important to neurodevelopment, and language and literacy are encouraged.
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Dislexia , Alfabetização , Adulto , Humanos , População do Leste Asiático , Estudo de Associação Genômica Ampla , Hong Kong , Idioma , Dislexia/genética , Proteínas de Membrana , Proteínas do Tecido Nervoso/genéticaRESUMO
The development of efficient and reliable online assessments has become increasingly important in the digital era. We developed a 10-min online word reading assessment of global English based on the existing paper-and-pencil version of our English silent word reading test. The test includes two parts, namely, random word recognition and contextual word reading. A total of 889 participants (437 children and 392 adults; 62.7% female) took part in the study. They were from various regions including mainland China, Hong Kong SAR, Macau SAR, Poland, the United States, and the Philippines. Reliability and validity analyses on various demographics samples (by age and country/region of origin) demonstrated that the WordSword Test is highly reliable and valid (e.g., the correlation of this test with other English reading measures were above .80). Education level was positively correlated with test performance, while the correlations between age and test performance were not consistent. Ninety-seven children participants also took the paper-and-pencil version of the WordSword Test. The correlation between performances on the online and paper-and-pencil versions of the test was .879, one year apart. With more children and adults taking the WordSword Test, we ultimately hope to establish norms by area, grade level, and age.
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We examined the developmental trajectories and cognitive predictors of first language Chinese reading, second language English reading, and mathematics skills in Hong Kong children in Grades 1-5. We used longitudinal data of 1,000 children (Mage = 7.59 years) assessed on phonological awareness, rapid naming, and morphological awareness in Grade 1 and Chinese word reading, English word reading, and arithmetic calculations in Grades 1-5. Results revealed a decelerating growth pattern for word reading in Chinese and English and a linear growth pattern for arithmetic calculations. Rapid naming and morphological awareness predicted the initial status of all academic skills. The findings suggest that although these academic skills share initial cognitive processes, they follow remarkably different developmental trajectories. (PsycInfo Database Record (c) 2023 APA, all rights reserved).
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Multilinguismo , Leitura , Humanos , Criança , Hong Kong , Fonética , IdiomaRESUMO
Word reading fluency is crucial for early L2 development. Moreover, the practice of digital reading has become increasingly common for both children and adults. Therefore, the current study investigated factors that explain digital word reading fluency in English (L2) among Chinese children from Hong Kong. Eighty-six children (age: M = 9.78, SD = 1.42) participated in a digital silent word reading test using a mobile phone, a computer, or a tablet. This is a 10-minute timed test of English word reading. Overall, children's digital word reading fluency was highly correlated with print word reading fluency, even when measured a year apart. A hierarchical regression model revealed that socio-economic status ( ß = .333), grade ( ß = .455), and English reading motivation ( ß = .375) were positively and uniquely associated with performance in digital reading. These predictors explained 48.6% of the total variance in task performance. Two additional variables, i.e., the type of reading device and extraneous cognitive load, were included as well. Digital word reading fluency was significantly poorer when done using a phone as compared to a computer ( ß = -.187). No significant difference was found between reading on a tablet and a computer. Extraneous cognitive load ( ß = -.255) negatively and uniquely explained digital word reading fluency as well. Overall, the model explained 58.8% of the total variance. The present study represents the first attempt to highlight a comprehensive set of predictors of digital word reading fluency.
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Stroke order knowledge is critical for Chinese reading and spelling acquisition. Previous studies have demonstrated enhancements of the N2 and P3 event-related potential (ERP) components at the Pz electrode to stroke order violations of Chinese characters in younger adults. However, it remained unclear whether similar ERP responses could be found in children. The current study investigated the ERP responses to stroke order violations of Chinese characters in children and examined the associations of the ERP responses with children's Chinese reading and spelling performance. A total of 26 Grade 2 Hong Kong Chinese children observed stroke-by-stroke displays of Chinese characters and judged whether the Chinese characters were written in the correct order. The ERP results showed larger anterior N2 and posterior P3 at the midline electrodes to the incorrect strokes than to the correct strokes. In addition, a smaller right lateralized temporal N2 response to the incorrect strokes was found in poor spellers as compared with good spellers of Chinese. The effect of the right lateralized temporal N2 response on reading performance was fully mediated through spelling ability. These results demonstrated increases in the anterior N2 and posterior P3 responses to stroke order violation of Chinese characters in second graders and suggest the right lateralized N2 response as a potential neural marker of Chinese literacy development in children.
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Leitura , Acidente Vascular Cerebral , Criança , Humanos , Idioma , Potenciais Evocados/fisiologia , Alfabetização , FonéticaRESUMO
Literacy skills are important for children's development. The present study explored the effectiveness of a parent coaching approach on the reading and spelling skills and compared cognitive-linguistic skills performances between Chinese children with and without dyslexia. Participants were 33 children with dyslexia and 77 children without dyslexia, as well as their parent, in Hong Kong. Children were divided into three groups: dyslexia with training, non-dyslexia with training, and non-dyslexia without training. Parents in both training groups were instructed to facilitate children's literacy skills. A series of cognitive-linguistic skills were tested on children at pretest. Children received measures of character reading, word reading, and word spelling before and after the parent coaching. Results showed that, compared to children without dyslexia, children with dyslexia performed significantly more poorly on all cognitive-linguistic skills. Analyses of the training effect demonstrated that the dyslexia with training group significantly improved their performances on word reading and word spelling following the intervention. In addition, those without dyslexia who experienced training performed significantly better on character reading and word spelling at posttest than pretest. These results suggest that parent coaching can be one potentially effective method of promoting literacy skills among children both with and without dyslexia.
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Previous work has predominantly focused on word reading in studying literacy difficulties; very little work has focused on spelling difficulty instead. The present study adopted spelling (dictation) as the criterion to classify poor literacy skills in Hong Kong Chinese-English bilingual children. We examined the cognitive-linguistic skills profiles across four groups of children with different spelling abilities. Based on performances on Chinese and English dictation (criterion = below 25% in a larger sample), four groups were identified, 21 poor spellers of Chinese (PC), 18 poor spellers of English (PE), 27 poor spellers of both languages (PB), and 30 good spellers of both scripts (GB). Measures on language-specific tests of cognitive-linguistic skills (phonological awareness, lexical decision, morphological awareness, rapid naming, and delayed copying) were included to compare the degree of deficit exhibited by each group. With age, grade, and non-verbal intelligence controlled, one-way ANCOVA results revealed that, compared to GB, PC manifested significant deficits in Chinese-delayed copying but scored similarly on all English cognitive-linguistic skills. PE and PB showed significant deficits in Chinese and English phonological awareness compared to PC; they were significantly weaker in English-delayed copying, morphological awareness, and rapid naming (RAN). The PB group was significantly slower in both Chinese and English RAN compared to GB. Findings highlight the critical role of delayed copying in distinguishing poor spellers in both Chinese and English, the importance of phonological awareness for spelling in English but not in Chinese, and the role of automaticity in bilingual spelling difficulties.
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Idioma , Alfabetização , Criança , Humanos , População do Leste Asiático , Hong Kong , Fonética , LeituraRESUMO
Construct validity is essential to evaluate the generalizability of findings on literacy and dyslexia. Operational definitions of reading literacy determine the measurement method, yielding territory or country-wide literacy rates. This practice echoes the norm in diagnosis and prevalence estimates of dyslexia. International Large-Scale Assessments (ILSA) of literacy such as the Programme for International Student Assessment (PISA) compare countries' performances in relation to how well their students are reading. In this paper, we reexamine the validity claims and evidence using the examples of countries in Southeast Asia-Indonesia, Malaysia and Thailand, purported to have high proportions of poor readers. The challenge of characterizing reading performance and designing suitable measures for valid international comparisons is similar across phases of reading development and proficiency. The importance of the specificity of scripts and languages for reading abilities and impairments is highlighted. We suggest ways in which researchers can approach the assessment of reading proficiency from a cross-cultural and an interdisciplinary perspective. These can foster contextual caveats for generating and interpreting evidence.
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Handedness is the most commonly investigated lateralised phenotype and is usually measured as a binary left/right category. Its links with psychiatric and neurodevelopmental disorders prompted studies aimed at understanding the underlying genetics, while other measures and side preferences have been less studied. We investigated the heritability of hand, as well as foot, and eye preference by assessing parental effects (n ≤ 5028 family trios) and SNP-based heritability (SNP-h2, n ≤ 5931 children) in the Avon Longitudinal Study of Parents and Children (ALSPAC). An independent twin cohort from Hong Kong (n = 358) was used to replicate results from structural equation modelling (SEM). Parental left-side preference increased the chance of an individual to be left-sided for the same trait, with stronger maternal than paternal effects for footedness. By regressing out the effects of sex, age, and ancestry, we transformed laterality categories into quantitative measures. The SNP-h2 for quantitative handedness and footedness was 0.21 and 0.23, respectively, which is higher than the SNP-h2 reported in larger genetic studies using binary handedness measures. The heritability of the quantitative measure of handedness increased (0.45) compared to a binary measure for writing hand (0.27) in the Hong Kong twins. Genomic and behavioural SEM identified a shared genetic factor contributing to handedness, footedness, and eyedness, but no independent effects on individual phenotypes. Our analysis demonstrates how quantitative multidimensional laterality phenotypes are better suited to capture the underlying genetics than binary traits.
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Pé , Lateralidade Funcional , Criança , Lateralidade Funcional/genética , Humanos , Estudos Longitudinais , Fenótipo , Gêmeos/genéticaRESUMO
This study investigated the associations among bilingual phonological awareness, morphological awareness, and vocabulary by focusing on their genetic and environmental etiologies. It also explored the influence of family socio-economic status (SES) and language exposure amount on the genetic and environmental effects. A twin study was conducted with 349 pairs of Chinese-English bilingual twins (mean age = 7.37 years). Cross-language transfer was found in phonological and morphological awareness but not in vocabulary knowledge. A common genetic overlap was found among these bilingual abilities. We also found a common shared environmental effect that may account for the cross-language transfer in phonological awareness and the associations among English abilities. SES and language exposure were significant environmental influences on bilingual phonological awareness and English vocabulary. More teaching in Chinese was related to a stronger genetic effect on Chinese morphological awareness, whereas more teaching in English was related to a stronger environmental impact on English abilities.
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Multilinguismo , Vocabulário , Criança , China , Humanos , Idioma , FonéticaRESUMO
This research examined the relations among Cantonese phonological awareness, invented spelling in Pinyin (in Mandarin), and invented English spelling in 29 first language (L1) and 34 s language (L2) Cantonese-speaking second and third graders in Hong Kong. The purpose of this study was to understand how phonological awareness skills across languages are associated in multilinguals. We compared the phonological skills in the two groups (i.e., L1 and L2 Chinese speaking children) for the three official languages (i.e., Cantonese, Mandarin, and English) spoken in Hong Kong. The two groups did not differ on Cantonese phonological awareness, Mandarin Pinyin invented spelling, or English invented spelling, but the L1 group performed significantly better than the L2 group on Mandarin Pinyin tone skills, with non-verbal intelligence and grade level statistically controlled. In both groups, all three of the phonological sensitivity measures were significantly correlated with one another. With group, grade, and nonverbal IQ statistically controlled, only Mandarin Pinyin invented spelling but not Cantonese phonological awareness uniquely explained English invented spelling performance. In contrast, Pinyin invented spelling was uniquely explained by both English invented spelling and Cantonese phonological awareness skills. Results highlight some phonological transfer effects across languages.
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Copying characters presented previously (delayed copying) is an important skill in Chinese literacy acquisition. The relations of delayed copying and a set of literacy-related skills (including vocabulary knowledge, rapid automatized naming, phonological awareness, morphological awareness, and orthographic awareness), visual-orthographic judgment, motor coordination, pure copying of foreign scripts, and delayed copying to Chinese spelling were examined among 294 typically developing Hong Kong kindergarteners. With all other variables statistically controlled, rapid automatized naming, phonological awareness, morphological awareness, orthographic awareness, motor coordination, and delayed copying all uniquely explained Chinese spelling. To further investigate how delayed copying interacts with other skills, path analyses were conducted. The final model showed that vocabulary knowledge, visual-orthographic judgment, and pure copying had indirect effects on spelling through delayed copying. These findings partly support spelling models developed in alphabetic writing systems, but also reflect the uniqueness of Chinese. In addition, results suggest that delayed copying is a unique window into how children learn to write words in Chinese. The potentially critical role of delayed copying in Chinese spelling makes it a potentially good clinical indicator of early spelling proficiency and spelling difficulties.
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Dislexia , Leitura , Criança , Hong Kong , Humanos , Idioma , Fonética , VocabulárioRESUMO
This study examined whether different cognitive correlates are associated with spelling of different target types, such as phonologically consistent and inconsistent syllables, of Korean Hangul among 94 five-year-old first language (L1) Korean children and 41 foreign language (FL) learners who are Hong Kong Chinese college students. Korean children performed tasks of spelling, along with measures of syllable and phoneme coda awareness, phonological and orthographic working memory, morphological awareness, vocabulary, and orthographic knowledge. Among Korean 5-year-old children, coda awareness and orthographic working memory explained unique variance in spelling of phonologically consistent syllables, whereas syllable and coda awareness, orthographic working memory, orthographic knowledge, and vocabulary all explained unique variance in spelling of inconsistent syllables. When Chinese college students were tested on spelling of Korean Hangul as a foreign language, along with a battery of tasks in Korean similar to those administered to the L1 children, only orthographic working memory significantly explained spelling of consistent syllables, whereas only vocabulary knowledge explained spelling of inconsistent syllables. In both groups, spelling accuracy was lower in phonologically inconsistent than in consistent Hangul syllables. These findings suggest that different cognitive demands are involved in early spelling of phonologically consistent and inconsistent syllables in Korean Hangul among L1 and FL learners.
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Idioma , Fonética , Adulto , Pré-Escolar , Cognição , Humanos , Leitura , República da Coreia , VocabulárioRESUMO
EEG network modularity, as a proxy for cognitive plasticity, has been proposed to be a more reliable neural marker than power and coherence in predicting learning outcomes. The present study examined the associations between resting state EEG network modularity and both L1 Chinese and L2 English literacy skills among 90 Hong Kong first to fifth graders. The modularity indices of different frequency bands were highly correlated with one another. An exploratory factor analysis, performed to extract a general modularity index, explained 77.1% of the total variance. The modularity index was positively associated with Chinese word reading, Chinese phonological awareness, Chinese morphological awareness, and Chinese reading comprehension but was not significantly correlated with English word reading or English morphological awareness. Findings suggest that resting state EEG network modularity is likely to serve as a reasonable, reliable, and cost-effective neural marker of the development of first language but not second language literacy skills.
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Idioma , Multilinguismo , China , Eletroencefalografia , Humanos , Alfabetização , LeituraRESUMO
The current study investigated the contributions of phonological awareness, rapid automatized naming (RAN), and vocabulary to early numeracy and print knowledge developmental trajectories. A total of 128 young Filipino children were tracked three times at mean ages of 4.5, 5.0, and 5.5 years. The initial level (the intercept) and the growth rate (the slope) of early numeracy and print knowledge were estimated. Results showed that phonological awareness, vocabulary, and age significantly predicted the initial level of early numeracy. RAN and vocabulary explained significant variance in the growth rate of early numeracy. Phonological awareness, RAN, and vocabulary accounted for unique variance in the initial level of print knowledge. Results highlight the differential roles of phonological awareness, RAN, and vocabulary knowledge in the development of early numeracy and print knowledge among Filipino children.