Multivariate genome-wide association study of rapid automatised naming and rapid alternating stimulus in Hispanic American and African-American youth.

BACKGROUND: Rapid automatised naming (RAN) and rapid alternating stimulus (RAS) are reliable predictors of reading disability. The underlying biology of reading disability is poorly understood. However, the high correlation among RAN, RAS and reading could be attributable to shared genetic factors that contribute to common biological mechanisms. OBJECTIVE: To identify shared genetic factors that contribute to RAN and RAS performance using a multivariate approach. METHODS: We conducted a multivariate genome-wide association analysis of RAN Objects, RAN Letters and RAS Letters/Numbers in a sample of 1331 Hispanic American and African-American youth. Follow-up neuroimaging genetic analysis of cortical regions associated with reading ability in an independent sample and epigenetic examination of extant data predicting tissue-specific functionality in the brain were also conducted. RESULTS: Genome-wide significant effects were observed at rs1555839 (p=4.03×10-8) and replicated in an independent sample of 318 children of European ancestry. Epigenetic analysis and chromatin state models of the implicated 70 kb region of 10q23.31 support active transcription of the gene RNLS in the brain, which encodes a catecholamine metabolising protein. Chromatin contact maps of adult hippocampal tissue indicate a potential enhancer-promoter interaction regulating RNLS expression. Neuroimaging genetic analysis in an independent, multiethnic sample (n=690) showed that rs1555839 is associated with structural variation in the right inferior parietal lobule. CONCLUSION: This study provides support for a novel trait locus at chromosome 10q23.31 and proposes a potential gene-brain-behaviour relationship for targeted future functional analysis to understand underlying biological mechanisms for reading disability.

Causal Attribution Profiles as a Function of Reading Skills, Hyperactivity, and Inattention.

The causes that individuals attribute to reading outcomes shape future behaviors, including engagement or persistence with learning tasks. Although previous reading motivation research has examined differences between typical and struggling readers, there may be unique dynamics related to varying levels of reading and attention skills. Using latent profile analysis, we found 4 groups informed by internal attributions to ability and effort. Reading skills, inattention, and hyperactivity/impulsivity were investigated as functional correlates of attribution profiles. Participants were 1,312 youth (8-15 years of age) of predominantly African American and Hispanic racial/ethnic heritage. More adaptive attribution profiles had greater reading performance and lower inattention. The reverse was found for the least adaptive profile with associations to greater reading and attention difficulties. Distinct attribution profiles also existed across similar-achieving groups. Understanding reading-related attributions may inform instructional efforts in reading. Promoting adaptive attributions may foster engagement with texts despite learning difficulties and, in turn, support reading achievement.

Reading-Related Causal Attributions for Success and Failure: Dynamic Links With Reading Skill.

The present study investigated the relation among reading skills and attributions, naming speed, and phonological awareness across a wide range of reading skill. Participants were 1,105 school-age children and youths from two understudied populations: African Americans and Hispanic Americans. Individual assessments of children ranging in age from 8 to 15 years were conducted for reading outcomes, cognitive and linguistic predictors of reading, and attributions for success and failure in reading situations. Quantile regressions were formulated to estimate these relations across the full skill span of each outcome. Reading-related attributions predicted contextual word recognition, sight word and decoding fluency, and comprehension skills. Attributions to ability in success situations were positively related to each outcome across the full span. On three reading outcomes, this relation strengthened at higher skill levels. Attributions to effort in success situations were consistently and negatively related to all reading outcomes. The results provide evidence that the strength of the relation between reading and attributions varies according to reading skill levels, with the strongest evidence for ability-based attributions in situations of reading success.

Achievement attributions are associated with specific rather than general learning delays.

The causal attributions that children make for success and failure have been associated with later reading motivation and ability perceptions, which have the potential to impact future task engagement. Few studies have investigated whether such attributions are domain specific, that is linked with the specific skill in question, or a general motivational set. Even fewer studies have examined these relationships among diverse racial and ethnic subgroups. The present study examined differences in success and failure attributions among children with and without reading delay (RD) and general language impairments (LI), in a predominately Hispanic and African American sample. Participants were 1311 children, 8 to 15 years old. Significant differences in ability attributions were observed between participants with and without RD and LI, with no additive effect for cases with co-occurring reading and language impairments. When reading and vocabulary were evaluated continuously, significant and substantial positive relationships were observed between skill and ability attributions in situations of success, and negative associations observed in situations of failure. Weaker relationships were observed for vocabulary, though vocabulary did function as a moderator in the relationship between reading skill and ability attributions, with stronger associations at higher vocabulary levels. Overall, the findings suggest that ability attributions for reading success and failure are linked with reading skill and/or deficits, and not with general language impairments.

Phonological awareness mediates the relationship between DCDC2 and reading performance with home environment.

Proficient reading requires critical phonological processing skill that interacts with both genetic and environmental factors. However, the precise nature of the relationships between phonological processing and genetic and environmental factors are poorly understood. We analyzed data from the Genes, Reading and Dyslexia (GRaD) Study on 1419 children ages 8-15 years from African-American and Hispanic-American family backgrounds living in North America. The analyses showed that phonological awareness mediated the relationship between DCDC2-READ1 and reading outcomes when parental education and socioeconomic status was low. The association between READ1 and reading performance is complex, whereby mediation by phonological awareness was significantly moderated by both parental education and socioeconomic status. These results show the importance of home environment and phonological skills when determining associations between READ1 and reading outcomes. This will be an important consideration in the development of genetic screening for risk of reading disability.

Phonological Awareness Mediates the Relationship between DCDC2 and Reading Performance with the Influence of Home Environment.

Proficient reading requires critical phonological processing skill that interact with both genetic and environmental factors. However, the precise nature of the relationships between phonological processing and genetic and environmental factors are poorly understood. We analyzed data from the Genes, Reading and Dyslexia (GRaD) Study on 1,419 children ages 8 to 14 years from African-American and Hispanic-American family backgrounds living in North America. The analyses showed that phonological awareness mediated the relationship between DCDC2-READ1 and reading outcomes when parental education and socioeconomic status was low. The association between READ1 and reading performance is complex, whereby mediation by phonological awareness was significantly moderated by both parental education and socioeconomic status. These results show the importance of home environment and phonological skills when determining associations between READ1 and reading outcomes. This will be an important consideration in the development of genetic screening for risk of reading disability.

Effect of READ1 on latent profiles of reading disorder and comorbid attention and language impairment subtypes.

Recent studies of co-occurring reading disorder (RD) and attention deficit/hyperactivity disorder (ADHD), and co-occurring RD and language impairment (LI), support a core disability plus co-occurrence model focused on language and attention. Genetic factors have been associated with poor reading performance. However, little is known about whether different genetic variants independently contribute to RD co-occurrence subtypes. We aimed to identify subgroups of struggling readers using a latent profile analysis (LPA) in a sample of 1,432 Hispanic American and African American youth. RD classes were then tested for association with variants of READ1, a regulatory element within the candidate RD risk gene, DCDC2. Six groups were identified in the LPA using RD designation as a known-class variable. The three RD classes identified groups of subjects with neurocognitive profiles representing RD+ADHD, specific phonological deficit RD, and RD+LI. Genetic associations across RD subtypes were investigated against functional groupings of READ1. The RU1-1 group of READ1 alleles was associated with RD cases that were marked by deficits in both processing speed and attention (RD+ADHD). The DCDC2 microdeletion that encompasses READ1 was associated with RD cases showing a phonological deficit RD profile. These findings provide evidence for differential genetic contribution to RD subtypes, and that previously implicated genetic variants for RD may share an underlying genetic architecture across population groups for reading disorder.

A molecular-genetic and imaging-genetic approach to specific comprehension difficulties in children.

Children with poor reading comprehension despite typical word reading skills were examined using neuropsychological, genetic, and neuroimaging data collected from the Genes, Reading and Dyslexia Study of 1432 Hispanic American and African American children. This unexpected poor comprehension was associated with profound deficits in vocabulary, when compared to children with comprehension skills consistent with their word reading. Those with specific comprehension difficulties were also more likely to have RU2Short alleles of READ1 regulatory variants of DCDC2, strongly associated with reading and language difficulties. Subjects with RU2Short alleles showed stronger resting state functional connectivity between the right insula/inferior frontal gyrus and the right supramarginal gyrus, even after controlling for potentially confounding variables including genetic ancestry and socioeconomic status. This multi-disciplinary approach advances the current understanding of specific reading comprehension difficulties, and suggests the need for interventions that are more appropriately tailored to the specific comprehension deficits of this group of children.

Executive Functions Contribute Uniquely to Reading Competence in Minority Youth.

Competent reading requires various skills beyond those for basic word reading (i.e., core language skills, rapid naming, phonological processing). Contributing "higher-level" or domain-general processes include information processing speed and executive functions (working memory, strategic problem solving, attentional switching). Research in this area has relied on largely Caucasian samples, with limited representation of children from racial or ethnic minority groups. This study examined contributions of executive skills to reading competence in 761 children of minority backgrounds. Hierarchical linear regressions examined unique contributions of executive functions (EF) to word reading, fluency, and comprehension. EF contributed uniquely to reading performance, over and above reading-related language skills; working memory contributed uniquely to all components of reading; while attentional switching, but not problem solving, contributed to isolated and contextual word reading and reading fluency. Problem solving uniquely predicted comprehension, suggesting that this skill may be especially important for reading comprehension in minority youth. Attentional switching may play a unique role in development of reading fluency in minority youth, perhaps as a result of the increased demand for switching between spoken versus written dialects. Findings have implications for educational and clinical practice with regard to reading instruction, remedial reading intervention, and assessment of individuals with reading difficulty.

Are infant-toddler social-emotional and behavioral problems transient?

OBJECTIVE: To examine the persistence of parent-reported social-emotional and behavioral problems in infants and toddlers. METHOD: The sample comprised 1,082 children ascertained from birth records. Children were 12 to 40 months old in year 1 (1998-1999) and 23 to 48 months old in year 2 (1999-2000). Eighty percent participated in year 1 and 91% were retained in year 2. Social-emotional and behavioral problems were measured by high scores (> or=90th percentile) on the Internalizing, Externalizing, and/or Dysregulation domains of the Infant-Toddler Social and Emotional Assessment (ITSEA). Parents reported on sociodemographic factors, family life impairment, parenting stress, and family functioning. RESULTS: Among children with any high ITSEA domain score in year 1, 49.9% had persistent psychopathology, as indicated by the continued presence of a high score in year 2. In multivariate analyses, persistence was significantly more likely when parents reported co-occurring problems (i.e., problems in multiple ITSEA domains), high family life disruption, and high parenting distress in year 1. Homotypic persistence rates (i.e., same domain persistence) ranged from 38% to 50%. Only for dysregulation was homotypic persistence greater when co-occurring problems were present than for dysregulation alone. Persistence patterns were similar for boys and girls. CONCLUSION: Findings indicate that infant-toddler social-emotional/behavioral problems are not transient and highlight the need for early identification, multidomain and family assessment, and effective early intervention.

Language delay in a community cohort of young children.

OBJECTIVE: To document the prevalence of expressive language delay in relation to age and gender in 12- to 39-month-old children. To document the characteristics, particularly social competence and emotional/behavioral problems, related to deficits in expressive language. METHOD: Parents of an age- and sex-stratified random sample of children born at Yale New Haven Hospital between July 1995 and September 1997 who lived in the New Haven Meriden Standard Metropolitan Statistical Area were enrolled when their children were 12 to 39 months of age (79.8% participation;N = 1,189). The main outcome for these analyses is expressive language delay measured by the MacArthur Communicative Development Inventory, short forms. RESULTS: Expressive language delays range from 13.5% in 18- to 23-month-olds to 17.5% in children 30 to 36 months of age. By 18 to 23 months, children are more likely to experience delays if they come from environments characterized by low education, low expressiveness, poverty, high levels of parenting stress, and parents who report worry about their children's language problems. When social competence is adjusted for in the multivariable model, behavior problems are no longer associated with language delay, suggesting that poor social competence rather than behavior problems may be the critical early correlate of low expressive language development. CONCLUSIONS: Expressive language delays are prevalent problems that appear to be associated with poor social competence. Given that such problems may be risk factors for social and emotional problems, early identification is critical.