Genetic and environmental influences on Chinese language and reading abilities

This study investigated the etiology of individual differences in Chinese language and reading skills in 312 typically developing Chinese twin pairs aged from 3 to 11 years (228 pairs of monozygotic twins and 84 pairs of dizygotic twins; 166 male pairs and 146 female pairs). Children were individually given tasks of Chinese word reading, receptive vocabulary, phonological memory, tone awareness, syllable and rhyme awareness, rapid automatized naming, morphological awareness and orthographic skills, and Raven's Coloured Progressive Matrices. All analyses controlled for the effects of age. There were moderate to substantial genetic influences on word reading, tone awareness, phonological memory, morphological awareness and rapid automatized naming (estimates ranged from .42 to .73), while shared environment exerted moderate to strong effects on receptive vocabulary, syllable and rhyme awareness and orthographic skills (estimates ranged from .35 to .63). Results were largely unchanged when scores were adjusted for nonverbal reasoning as well as age. Findings of this study are mostly similar to those found for English, a language with very different characteristics, and suggest the universality of genetic and environmental influences across languages.     

Effects of Metalinguistic Awareness on Reading Comprehension and the Mediator Role of Reading Fluency from Grades 2 to 4

Purpose

This study examined the contribution of metalinguistic awareness including morphological awareness, phonological awareness and orthographical awareness to reading comprehension, and the role of reading fluency as a mediator of the effects of metalinguistic awareness on reading comprehension from grades 2 to 4.

Methods

Four hundred and fifteen elementary students in China mainland were administered a test battery that included measures of morphological awareness, phonological awareness, orthographical awareness, reading fluency, reading comprehension and IQ. Hierarchical regression and structural equation models (SEM) were used to analyze the data.

Results

Morphological awareness uniquely explained 9%, 10% and 13% variance of reading comprehension respectively from grade 2 to grade 4, however, phonological awareness and orthographical awareness did not contribute to reading comprehension; Reading fluency partially mediated the effect of morphological awareness on reading comprehension in grades 2-4.

Conclusions

These findings indicated that reading fluency and morphological awareness should be facilitated in the Chinese instruction. Morphological awareness played an important role in Chinese reading and affected reading comprehension in grades 2 to 4; Reading fluency was a significant link between morphological awareness and reading comprehension in grades 2-4.     

Quantitative-trait locus for specific language and reading deficits on chromosome 6p.

Reading disability (RD), or dyslexia, is a complex cognitive disorder manifested by difficulties in learning to read, in otherwise normal individuals. Individuals with RD manifest deficits in several reading and language skills. Previous research has suggested the existence of a quantitative-trait locus (QTL) for RD on the short arm of chromosome 6. In the present study, RD subjects' performance in several measures of word recognition and component skills of orthographic coding, phonological decoding, and phoneme awareness were individually subjected to QTL analysis, with a new sample of 126 sib pairs, by means of a multipoint mapping method and eight informative DNA markers on chromosome 6 (D6S461, D6S276, D6S105, D6S306, D6S258, D6S439, D6S291, and D6S1019). The results indicate significant linkage across a distance of at least 5 cM for deficits in orthographic (LOD = 3.10) and phonological (LOD = 2.42) skills, confirming previous findings.     

Association of DCDC2 Polymorphisms with Normal Variations in Reading Abilities in a Chinese Population

The doublecortin domain-containing 2 (DCDC2) gene, which is located on chromosome 6p22.1, has been widely suggested to be a candidate gene for dyslexia, but its role in typical reading development over time remains to be clarified. In the present study, we explored the role of DCDC2 in contributing to the individual differences in reading development from ages 6 to 11 years by analysing data from 284 unrelated children who were participating in the Chinese Longitudinal Study of Reading Development (CLSRD). The associations of eight single nucleotide polymorphisms (SNPs) in DCDC2 with the latent intercept and slope of children’s reading scores were examined in the first step. There was significant support for an association of rs807724 with the intercept for the reading comprehension measure of reading fluency, and the minor “G” allele was associated with poor reading performance. Next, we further tested the rs807724 SNP in association with the reading ability at each tested time and revealed that, in addition to significant associations with the two main reading measures (reading fluency and Chinese character reading) over multiple testing occasions, this SNP also showed associations with reading-related cognitive skills, including morphological production, orthographic judgment and phonological processing skills (rapid number naming, phoneme deletion, and tone detection). This study provides support for DCDC2 as a risk gene for reading disability and suggests that this gene is also operative for typical reading development in the Han population.     

Relationships between Categorical Perception of Phonemes,Phoneme Awareness,and Visual Attention Span in Developmental Dyslexia

We tested the hypothesis that the categorical perception deficit of speech sounds in developmental dyslexia is related to phoneme awareness skills, whereas a visual attention (VA) span deficit constitutes an independent deficit. Phoneme awareness tasks, VA span tasks and categorical perception tasks of phoneme identification and discrimination using a d/t voicing continuum were administered to 63 dyslexic children and 63 control children matched on chronological age. Results showed significant differences in categorical perception between the dyslexic and control children. Significant correlations were found between categorical perception skills, phoneme awareness and reading. Although VA span correlated with reading, no significant correlations were found between either categorical perception or phoneme awareness and VA span. Mediation analyses performed on the whole dyslexic sample suggested that the effect of categorical perception on reading might be mediated by phoneme awareness. This relationship was independent of the participants’ VA span abilities. Two groups of dyslexic children with a single phoneme awareness or a single VA span deficit were then identified. The phonologically impaired group showed lower categorical perception skills than the control group but categorical perception was similar in the VA span impaired dyslexic and control children. The overall findings suggest that the link between categorical perception, phoneme awareness and reading is independent from VA span skills. These findings provide new insights on the heterogeneity of developmental dyslexia. They suggest that phonological processes and VA span independently affect reading acquisition.     

Individual Differences in the Effect of Orthographic/Phonological Conflict on Rhyme and Spelling Decisions

In typical readers, orthographic knowledge has been shown to influence phonological decisions. In the present study, we used visual rhyme and spelling tasks to investigate the interaction of orthographic and phonological information in adults with varying reading skill. Word pairs that shared both orthography and phonology (e.g., throat/boat), differed in both orthography and phonology (e.g., snow/arm), shared only orthography (e.g., farm/warm), and shared only phonology (e.g., vote/boat) were visually presented to university students who varied in reading ability. For rhyme judgment, participants were slower and less accurate to accept rhyming pairs when words were spelled differently and to reject non-rhyming pairs when words were spelled similarly. Similarly, for spelling judgments, participants were slower and less accurate when indicating that word endings were spelled differently when words rhymed, and slower and less accurate when indicating that words were spelled similarly when words did not rhyme. Crucially, while these effects were clear at the group level, there were large individual differences in the extent to which participants were impacted by conflict. In two separate samples, reading skill was associated with the extent to which orthographic conflict impacted rhyme decisions such that individuals with better nonword reading performance were less impacted by orthographic conflict. Thus, university students with poorer reading skills may differ from their peers either in the reading strategies they use or in the degree to which they automatically access word form information. Understanding these relationships is important for understanding the roles that reading processes play in readers of different skill.     

Developmental dyslexia is characterized by the co-existence of visuospatial and phonological disorders in Chinese children

Developmental dyslexia is a neurological condition that is characterized by severe impairment in reading skill acquisition in people with adequate intelligence and typical schooling [1], [2] and [3]. For English readers, reading impairment is critically associated with a phonological processing disorder [3], [4] and [5], which may co-occur with an orthographic (visual word form) processing deficit [6], but not with a general visual processing dysfunction in most dyslexics [7]. The pathophysiology of dyslexia varies across languages [8]: for instance, unlike English, written Chinese maps visually intricate graphic forms (characters) onto meanings; pronunciation of Chinese characters must be rote memorized. This suggests that, in Chinese, a fine-grained visuospatial analysis must be performed to activate characters' phonology and meaning; consequently, disordered phonological processing may commonly co-exist with abnormal visuospatial processing in Chinese dyslexia. To test this hypothesis, we conducted an fMRI experiment in which 12 Chinese dyslexics, shown previously [9] to exhibit a phonological disorder, performed a physical size judgment measuring visuospatial dimensions. Compared with 12 control subjects, the dyslexics showed weaker activations in left intraparietal sulcus (IPS) mediating visuospatial processing. Analyses of individual dyslexics' performances further suggest that developmental dyslexia in Chinese is commonly associated with the co-existence of a visuospatial deficit and a phonological disorder.     

A genome-wide association study identifies a new variant associated with word reading fluency in Chinese children

Reading disability exhibited defects in different cognitive domains, including word reading fluency, word reading accuracy, phonological awareness, rapid automatized naming and morphological awareness. To identify the genetic basis of Chinese reading disability, we conducted a genome-wide association study (GWAS) of the cognitive traits related to Chinese reading disability in 2284 unrelated Chinese children. Among the traits analyzed in the present GWAS, we detected one genome-wide significant association (p < 5 × 10⁻⁸) on word reading fluency for one SNP on 4p16.2, within EVC genes (rs6446395, p = 7.33 × 10⁻¹⁰). Rs6446395 also showed significant association with Chinese character reading accuracy (p = 2.95 × 10⁻⁴), phonological awareness (p = 7.11 × 10⁻³) and rapid automatized naming (p = 4.71 × 10⁻³), implying multiple effects of this variant. The eQTL data showed that rs6446395 affected EVC expression in the cerebellum. Gene-based analyses identified a gene (PRDM10) to be associated with word reading fluency at the genome-wide level. Our study discovered a new candidate susceptibility variant for reading ability and provided new insights into the genetics of developmental dyslexia in Chinese children.     

The interface between spoken and written language: developmental disorders

We review current knowledge about reading development and the origins of difficulties in learning to read. We distinguish between the processes involved in learning to decode print, and the processes involved in reading for meaning (reading comprehension). At a cognitive level, difficulties in learning to read appear to be predominantly caused by deficits in underlying oral language skills. The development of decoding skills appears to depend critically upon phonological language skills, and variations in phoneme awareness, letter–sound knowledge and rapid automatized naming each appear to be causally related to problems in learning to read. Reading comprehension difficulties in contrast appear to be critically dependent on a range of oral language comprehension skills (including vocabulary knowledge and grammatical, morphological and pragmatic skills).     

Music Training Increases Phonological Awareness and Reading Skills in Developmental Dyslexia: A Randomized Control Trial

There is some evidence for a role of music training in boosting phonological awareness, word segmentation, working memory, as well as reading abilities in children with typical development. Poor performance in tasks requiring temporal processing, rhythm perception and sensorimotor synchronization seems to be a crucial factor underlying dyslexia in children. Interestingly, children with dyslexia show deficits in temporal processing, both in language and in music. Within this framework, we test the hypothesis that music training, by improving temporal processing and rhythm abilities, improves phonological awareness and reading skills in children with dyslexia. The study is a prospective, multicenter, open randomized controlled trial, consisting of test, rehabilitation and re-test (ID NCT02316873). After rehabilitation, the music group (N = 24) performed better than the control group (N = 22) in tasks assessing rhythmic abilities, phonological awareness and reading skills. This is the first randomized control trial testing the effect of music training in enhancing phonological and reading abilities in children with dyslexia. The findings show that music training can modify reading and phonological abilities even when these skills are severely impaired. Through the enhancement of temporal processing and rhythmic skills, music might become an important tool in both remediation and early intervention programs.

Trial Registration

ClinicalTrials.gov NCT02316873     

Association of the DYX1C1 Dyslexia Susceptibility Gene with Orthography in the Chinese Population

Several independent studies have supported the association of DYX1C1 with dyslexia, but its role in general reading development remains unclear. Here, we investigated the contribution of this gene to reading, with a focus on orthographic skills, in a sample of 284 unrelated Chinese children aged 5 to 11 years who were participating in the Chinese Longitudinal Study of Reading Development. We tested this association using a quantitative approach for Chinese character reading, Chinese character dictation, orthographic judgment, and visual skills. Significant or marginally significant associations were observed at the marker rs11629841 with children''s orthographic judgments at ages 7 and 8 years (all P values<0.020). Significant associations with Chinese character dictation (all P values<0.013) were also observed for this single-nucleotide polymorphism (SNP) at ages 9, 10, and 11 years. Further analyses revealed that the association with orthographic skills was specific to the processing of specific components of characters (P values<0.046). No association was found at either SNP of rs3743205 or rs57809907. Our findings suggest that DYX1C1 influences reading development in the general Chinese population and supports a universal effect of this gene.     

Modelling reading development through phonological decoding and self-teaching: implications for dyslexia

The most influential theory of learning to read is based on the idea that children rely on phonological decoding skills to learn novel words. According to the self-teaching hypothesis, each successful decoding encounter with an unfamiliar word provides an opportunity to acquire word-specific orthographic information that is the foundation of skilled word recognition. Therefore, phonological decoding acts as a self-teaching mechanism or ‘built-in teacher’. However, all previous connectionist models have learned the task of reading aloud through exposure to a very large corpus of spelling–sound pairs, where an ‘external’ teacher supplies the pronunciation of all words that should be learnt. Such a supervised training regimen is highly implausible. Here, we implement and test the developmentally plausible phonological decoding self-teaching hypothesis in the context of the connectionist dual process model. In a series of simulations, we provide a proof of concept that this mechanism works. The model was able to acquire word-specific orthographic representations for more than 25 000 words even though it started with only a small number of grapheme–phoneme correspondences. We then show how visual and phoneme deficits that are present at the outset of reading development can cause dyslexia in the course of reading development.     

Phonological Recoding in Error Detection: A Cross-sectional Study in Beginning Readers of Dutch

The present cross-sectional study investigated the development of phonological recoding in beginning readers of Dutch, using a proofreading task with pseudohomophones and control misspellings. In Experiment 1, children in grades 1 to 3 rejected fewer pseudohomophones (e.g., wein, sounding like wijn ‘wine’) as spelling errors than control misspellings (e.g., wijg). The size of this pseudohomophone effect was larger in grade 1 than in grade 2 and did not differ between grades 2 and 3. In Experiment 2, we replicated the pseudohomophone effect in beginning readers and we tested how orthographic knowledge may modulate this effect. Children in grades 2 to 4 again detected fewer pseudohomophones than control misspellings and this effect decreased between grades 2 and 3 and between grades 3 and 4. The magnitude of the pseudohomophone effect was modulated by the development of orthographic knowledge: its magnitude decreased much more between grades 2 and 3 for more advanced spellers, than for less advanced spellers. The persistence of the pseudohomophone effect across all grades illustrates the importance of phonological recoding in Dutch readers. At the same time, the decreasing pseudohomophone effect across grades indicates the increasing influence of orthographic knowledge as reading develops.     

Susceptibility loci for distinct components of developmental dyslexia on chromosomes 6 and 15.

Six extended dyslexic families with at least four affected individuals were genotyped with markers in three chromosomal regions: 6p23-p21.3, 15pter-qter, and 16pter-qter. Five theoretically derived phenotypes were used in the linkage analyses: (1) phonological awareness; (2) phonological decoding; (3) rapid automatized naming; (4) single-word reading; and (5) discrepancy between intelligence and reading performance, an empirically derived, commonly used phenotype. Two-point and multipoint allele-sharing analyses of chromosome 6 markers revealed significant evidence (P < 10(-6)) for linkage of the phonological awareness phenotype to five adjacent markers (D6S109, D6S461, D6S299, D6S464, and D6S306). The least compelling results were obtained with single-word reading. In contrast, with chromosome 15 markers, a LOD score of 3.15 was obtained for marker D15S143 at theta = 0.0 with single-word reading. Multipoint analyses with markers adjacent to D15S143 (D15S126, D15S132, D15S214, and D15S128) were positive, but none reached acceptable significance levels. Chromosome 15 analyses with the phonological awareness phenotype were negative. Parametric and nonparametric linkage analyses with chromosome 16 markers were negative. The most intriguing aspect of the current findings is that two very distinct reading-related phenotypes, reflecting different levels in the hierarchy of reading-related skills, each contributing to different processes, appear to be linked to two different chromosomal regions.     

The Relation between Reading Skills and Eye Movement Patterns in Adolescent Readers: Evidence from a Regular Orthography

Over the past decades, the relation between reading skills and eye movement behavior has been well documented in English-speaking cohorts. As English and German differ substantially with regard to orthographic complexity (i.e. grapheme-phoneme correspondence), we aimed to delineate specific characteristics of how reading speed and reading comprehension interact with eye movements in typically developing German-speaking (Austrian) adolescents. Eye movements of 22 participants (14 females; mean age = 13;6 years;months) were tracked while they were performing three tasks, namely silently reading words, texts, and pseudowords. Their reading skills were determined by means of a standardized German reading speed and reading comprehension assessment (Lesegeschwindigkeits- und -verständnistest für Klassen 6−12). We found that (a) reading skills were associated with various eye movement parameters in each of the three reading tasks; (b) better reading skills were associated with an increased efficiency of eye movements, but were primarily linked to spatial reading parameters, such as the number of fixations per word, the total number of saccades and saccadic amplitudes; (c) reading speed was a more reliable predictor for eye movement parameters than reading comprehension; (d) eye movements were highly correlated across reading tasks, which indicates consistent reading performances. Contrary to findings in English-speaking cohorts, the reading skills neither consistently correlated with temporal eye movement parameters nor with the number or percentage of regressions made while performing any of the three reading tasks. These results indicate that, although reading skills are associated with eye movement patterns irrespective of language, the temporal and spatial characteristics of this association may vary with orthographic consistency.     

Generalization of Auditory Sensory and Cognitive Learning in Typically Developing Children

Despite the well-established involvement of both sensory (“bottom-up”) and cognitive (“top-down”) processes in literacy, the extent to which auditory or cognitive (memory or attention) learning transfers to phonological and reading skills remains unclear. Most research has demonstrated learning of the trained task or even learning transfer to a closely related task. However, few studies have reported “far-transfer” to a different domain, such as the improvement of phonological and reading skills following auditory or cognitive training. This study assessed the effectiveness of auditory, memory or attention training on far-transfer measures involving phonological and reading skills in typically developing children. Mid-transfer was also assessed through untrained auditory, attention and memory tasks. Sixty 5- to 8-year-old children with normal hearing were quasi-randomly assigned to one of five training groups: attention group (AG), memory group (MG), auditory sensory group (SG), placebo group (PG; drawing, painting), and a control, untrained group (CG). Compliance, mid-transfer and far-transfer measures were evaluated before and after training. All trained groups received 12 x 45-min training sessions over 12 weeks. The CG did not receive any intervention. All trained groups, especially older children, exhibited significant learning of the trained task. On pre- to post-training measures (test-retest), most groups exhibited improvements on most tasks. There was significant mid-transfer for a visual digit span task, with highest span in the MG, relative to other groups. These results show that both sensory and cognitive (memory or attention) training can lead to learning in the trained task and to mid-transfer learning on a task (visual digit span) within the same domain as the trained tasks. However, learning did not transfer to measures of language (reading and phonological awareness), as the PG and CG improved as much as the other trained groups. Further research is required to investigate the effects of various stimuli and lengths of training on the generalization of sensory and cognitive learning to literacy skills.     

Effects of lexicality, frequency, and spelling-to-sound consistency on the functional anatomy of reading

Functional neuroimaging was used to investigate three factors that affect reading performance: first, whether a stimulus is a word or pronounceable non-word (lexicality), second, how often a word is encountered (frequency), and third, whether the pronunciation has a predictable spelling-to-sound correspondence (consistency). Comparisons between word naming (reading) and visual fixation scans revealed stimulus-related activation differences in seven regions. A left frontal region showed effects of consistency and lexicality, indicating a role in orthographic to phonological transformation. Motor cortex showed an effect of consistency bilaterally, suggesting that motoric processes beyond high-level representations of word phonology influence reading performance. Implications for the integration of these results into theoretical models of word reading are discussed.     

Language,Reading, and Math Learning Profiles in an Epidemiological Sample of School Age Children

Dyscalculia, dyslexia, and specific language impairment (SLI) are relatively specific developmental learning disabilities in math, reading, and oral language, respectively, that occur in the context of average intellectual capacity and adequate environmental opportunities. Past research has been dominated by studies focused on single impairments despite the widespread recognition that overlapping and comorbid deficits are common. The present study took an epidemiological approach to study the learning profiles of a large school age sample in language, reading, and math. Both general learning profiles reflecting good or poor performance across measures and specific learning profiles involving either weak language, weak reading, weak math, or weak math and reading were observed. These latter four profiles characterized 70% of children with some evidence of a learning disability. Low scores in phonological short-term memory characterized clusters with a language-based weakness whereas low or variable phonological awareness was associated with the reading (but not language-based) weaknesses. The low math only group did not show these phonological deficits. These findings may suggest different etiologies for language-based deficits in language, reading, and math, reading-related impairments in reading and math, and isolated math disabilities.     

A quantitative-trait locus on chromosome 6p influences different aspects of developmental dyslexia.

Recent application of nonparametric-linkage analysis to reading disability has implicated a putative quantitative-trait locus (QTL) on the short arm of chromosome 6. In the present study, we use QTL methods to evaluate linkage to the 6p25-21.3 region in a sample of 181 sib pairs from 82 nuclear families that were selected on the basis of a dyslexic proband. We have assessed linkage directly for several quantitative measures that should correlate with different components of the phenotype, rather than using a single composite measure or employing categorical definitions of subtypes. Our measures include the traditional IQ/reading discrepancy score, as well as tests of word recognition, irregular-word reading, and nonword reading. Pointwise analysis by means of sib-pair trait differences suggests the presence, in 6p21.3, of a QTL influencing multiple components of dyslexia, in particular the reading of irregular words (P=.0016) and nonwords (P=.0024). A complementary statistical approach involving estimation of variance components supports these findings (irregular words, P=.007; nonwords, P=.0004). Multipoint analyses place the QTL within the D6S422-D6S291 interval, with a peak around markers D6S276 and D6S105 consistently identified by approaches based on trait differences (irregular words, P=.00035; nonwords, P=.0035) and variance components (irregular words, P=.007; nonwords, P=.0038). Our findings indicate that the QTL affects both phonological and orthographic skills and is not specific to phoneme awareness, as has been previously suggested. Further studies will be necessary to obtain a more precise localization of this QTL, which may lead to the isolation of one of the genes involved in developmental dyslexia.     

Symbolic Numerical Magnitude Processing Is as Important to Arithmetic as Phonological Awareness Is to Reading

In this article, we tested, using a 1-year longitudinal design, whether symbolic numerical magnitude processing or children’s numerical representation of Arabic digits, is as important to arithmetic as phonological awareness is to reading. Children completed measures of symbolic comparison, phonological awareness, arithmetic, reading at the start of third grade and the latter two were retested at the start of fourth grade. Cross-sectional and longitudinal correlations indicated that symbolic comparison was a powerful domain-specific predictor of arithmetic and that phonological awareness was a unique predictor of reading. Crucially, the strength of these independent associations was not significantly different. This indicates that symbolic numerical magnitude processing is as important to arithmetic development as phonological awareness is to reading and suggests that symbolic numerical magnitude processing is a good candidate for screening children at risk for developing mathematical difficulties.