Reliability of the serial reaction time task: If at first you don't succeed, try, try, try again.

Procedural memory is involved in the acquisition and control of skills and habits that underlie rule and procedural learning, including the acquisition of grammar and phonology. The serial reaction time task (SRTT), commonly used to assess procedural learning, has been shown to have poor stability (test-retest reliability). We investigated factors that may affect the stability of the SRTT in adults. Experiment 1 examined whether the similarity of sequences learned in two sessions would impact stability: test-retest correlations were low regardless of sequence similarity (r < .31). Experiment 2 added a third session to examine whether individual differences in learning would stabilise with further training. There was a small (but nonsignificant) improvement in stability for later sessions (Sessions 1 and 2: r = .42; Sessions 2 and 3: r = .60). Stability of procedural learning on the SRTT remained suboptimal in all conditions, posing a serious obstacle to the use of this task as a sensitive predictor of individual differences and ultimately theoretical advance.

Disentangling genetic and environmental influences on early language development: The interplay of genetic propensity for negative emotionality and surgency, and parenting behavior effects on early language skills in an adoption study.

Parenting and children's temperament are important influences on language development. However, temperament may reflect prior parenting, and parenting effects may reflect genes common to parents and children. In 561 U.S. adoptees (57% male) and their birth and rearing parents (70% and 92% White, 13% and 4% African American, and 7% and 2% Latinx, respectively), this study demonstrated how genetic propensity for temperament affects language development, and how this relates to parenting. Genetic propensity for negative emotionality inversely predicted language at 27 months (ß = -.15) and evoked greater maternal warmth (ß = .12), whereas propensity for surgency positively predicted language at 4.5 years (ß = .20), especially when warmth was low. Parental warmth (ß = .15) and sensitivity (ß = .19) further contributed to language development, controlling for common gene effects.

The reliability of the serial reaction time task: meta-analysis of test-retest correlations.

The Serial Reaction Time task, one of the most widely used tasks to index procedural memory, has been increasingly employed in individual differences research examining the role of procedural memory in language and other cognitive abilities. Yet, despite consistently producing robust procedural learning effects at the group level (i.e. faster responses to sequenced/probable trials versus random/improbable trials), these effects have recently been found to have poor reliability. In this meta-analysis (N = 7), comprising 719 participants (M = 20.81, s.d. = 7.13), we confirm this 'reliability paradox'. The overall retest reliability of the robust procedural learning effect elicited by the SRTT was found to be well below acceptable psychometric standards (r < 0.40). However, split-half reliability within a session is better, with an overall estimate of 0.66. There were no significant effects of sampling (participants' age), methodology (e.g. number of trials, sequence type) and analytical decisions (whether all trials were included when computing the procedural learning scores; using different indexes of procedural learning). Thus, despite producing robust effects at the group-level, until we have a better understanding of the factors that improve the reliability of this task using the SRTT for individual differences research should be done with caution.

Limited Evidence of an Association Between Language, Literacy, and Procedural Learning in Typical and Atypical Development: A Meta-Analysis.

The ability to extract patterns from sensory input across time and space is thought to underlie the development and acquisition of language and literacy skills, particularly the subdomains marked by the learning of probabilistic knowledge. Thus, impairments in procedural learning are hypothesized to underlie neurodevelopmental disorders, such as dyslexia and developmental language disorder. In the present meta-analysis, comprising 2396 participants from 39 independent studies, the continuous relationship between language, literacy, and procedural learning on the Serial Reaction Time task (SRTT) was assessed across children and adults with typical development (TD), dyslexia, and Developmental Language Disorder (DLD). Despite a significant, but very small, relationship between procedural learning and overall language and literacy measures, this pattern was not observed at the group-level when examining TD, dyslexic, and DLD groups separately. Based on the procedural/declarative model, a positive relationship was expected between procedural learning and language and literacy measures for the typically developing group; however, no such relationship was observed. This was also the case for the disordered groups (ps > .05). Also counter to expectations, the magnitude of the relationship between procedural learning and grammar and phonology did not differ between TD and DLD (ps > .05), nor between the TD and dyslexic group on reading, spelling, and phonology (ps > .05). While lending little support to the procedural/declarative model, we consider that these results may be the consequence of poor psychometric properties of the SRTT as a measure of procedural learning.

Language and reading impairments are associated with increased prevalence of non-right-handedness.

Handedness has been studied for association with language-related disorders because of its link with language hemispheric dominance. No clear pattern has emerged, possibly because of small samples, publication bias, and heterogeneous criteria across studies. Non-right-handedness (NRH) frequency was assessed in N = 2503 cases with reading and/or language impairment and N = 4316 sex-matched controls identified from 10 distinct cohorts (age range 6-19 years old; European ethnicity) using a priori set criteria. A meta-analysis (Ncases  = 1994) showed elevated NRH % in individuals with language/reading impairment compared with controls (OR = 1.21, CI = 1.06-1.39, p = .01). The association between reading/language impairments and NRH could result from shared pathways underlying brain lateralization, handedness, and cognitive functions.

Alexithymia and intolerance of uncertainty predict somatic symptoms in autistic and non-autistic adults.

LAY ABSTRACT: Autistic people have more physical health problems than non-autistic people. We were interested in whether autistic people experience more discomfort in their bodies than non-autistic people and whether certain psychological traits contribute to that. A survey was completed online by older adolescents and adults, 51 of whom were autistic, 32 of whom thought they might be autistic but were not diagnosed and 119 who were not autistic. They completed measures of somatic symptoms (daily experience of pain, discomfort, dizziness), alexithymia (difficulty identifying and expressing feelings), interoception (how much people are aware of their bodies) and intolerance of uncertainty (how people handle doubt or uncertainty), and reported any physical or mental health conditions. We found that the autistic participants had more physical and mental health conditions than the non-autistic participants, but even when we took account of this, they experienced higher levels of somatic symptoms. We looked at which psychological factors influenced levels of somatic symptoms across the whole sample, and found that alexithymia, intolerance of uncertainty, having physical health problems, being female and the number of mental health conditions predicted somatic symptoms, while interoception and autism diagnosis did not. The findings suggest that people may be more likely to experience physical discomfort if they are female, and have difficulty identifying and expressing feeling and difficulty tolerating doubt. As these psychological factors are more prominent in autism, we think this is important for physical and mental health providers to know about, so that these psychological factors can be considered when assessing and treating autistic people.

Genome-wide analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people.

The use of spoken and written language is a fundamental human capacity. Individual differences in reading- and language-related skills are influenced by genetic variation, with twin-based heritability estimates of 30 to 80% depending on the trait. The genetic architecture is complex, heterogeneous, and multifactorial, but investigations of contributions of single-nucleotide polymorphisms (SNPs) were thus far underpowered. We present a multicohort genome-wide association study (GWAS) of five traits assessed individually using psychometric measures (word reading, nonword reading, spelling, phoneme awareness, and nonword repetition) in samples of 13,633 to 33,959 participants aged 5 to 26 y. We identified genome-wide significant association with word reading (rs11208009, P = 1.098 × 10-8) at a locus that has not been associated with intelligence or educational attainment. All five reading-/language-related traits showed robust SNP heritability, accounting for 13 to 26% of trait variability. Genomic structural equation modeling revealed a shared genetic factor explaining most of the variation in word/nonword reading, spelling, and phoneme awareness, which only partially overlapped with genetic variation contributing to nonword repetition, intelligence, and educational attainment. A multivariate GWAS of word/nonword reading, spelling, and phoneme awareness maximized power for follow-up investigation. Genetic correlation analysis with neuroimaging traits identified an association with the surface area of the banks of the left superior temporal sulcus, a brain region linked to the processing of spoken and written language. Heritability was enriched for genomic elements regulating gene expression in the fetal brain and in chromosomal regions that are depleted of Neanderthal variants. Together, these results provide avenues for deciphering the biological underpinnings of uniquely human traits.

A rare missense variant in the ATP2C2 gene is associated with language impairment and related measures.

At least 5% of children present unexpected difficulties in expressing and understanding spoken language. This condition is highly heritable and often co-occurs with other neurodevelopmental disorders such as dyslexia and ADHD. Through an exome sequencing analysis, we identified a rare missense variant (chr16:84405221, GRCh38.p12) in the ATP2C2 gene. ATP2C2 was implicated in language disorders by linkage and association studies, and exactly the same variant was reported previously in a different exome sequencing study for language impairment (LI). We followed up this finding by genotyping the mutation in cohorts selected for LI and comorbid disorders. We found that the variant had a higher frequency in LI cases (1.8%, N = 360) compared with cohorts selected for dyslexia (0.8%, N = 520) and ADHD (0.7%, N = 150), which presented frequencies comparable to reference databases (0.9%, N = 24 046 gnomAD controls). Additionally, we observed that carriers of the rare variant identified from a general population cohort (N = 42, ALSPAC cohort) presented, as a group, lower scores on a range of reading and language-related measures compared to controls (N = 1825; minimum P = 0.002 for non-word reading). ATP2C2 encodes for an ATPase (SPCA2) that transports calcium and manganese ions into the Golgi lumen. Our functional characterization suggested that the rare variant influences the ATPase activity of SPCA2. Thus, our results further support the role of ATP2C2 locus in language-related phenotypes and pinpoint the possible effects of a specific rare variant at molecular level.

Shared storybook reading with children at family risk of dyslexia.

Background: Shared storybook reading is an important context for language learning and often constitutes young children's first encounter with the printed word. The quality of early shared reading interactions is a known predictor of language and reading development, but few studies have examined these interactions in children at family risk of dyslexia. Methods: This exploratory study describes the quality of shared storybook reading between mothers and their 3- to 4-year-old children at family risk of dyslexia (FR; n = 18) in comparison with dyads with no known risk (no-FR; n = 13). Mother-child interactions while sharing a familiar and an unfamiliar storybook were coded for type of extra-textual talk (meaning-related talk at the concrete and abstract levels; print-related talk) and affective quality. Maternal and child language and literacy skills were considered as potential correlates of shared reading quality. Results: The linguistic and affective quality of shared reading was broadly comparable across FR and no-FR dyads, particularly when sharing a book they knew well, with large within-group variation. Mothers contributed more concrete meaning-related talk when introducing an unfamiliar book to their children; children contributed more extra-textual talk overall when sharing a familiar book. Maternal language, but not reading, skills were related to the linguistic quality of shared reading. The affective quality of reading interactions was rated more highly in dyads where mothers and children had stronger language skills. Conclusions: These results suggest that the quality of shared reading does not vary systematically as a function of children's risk of dyslexia but is related to maternal language skills. This finding needs to be replicated in a larger sample in order to better understand the risk and protective factors associated with dyslexia. Highlights: What is already known about this topic The quality of extra-textual talk during shared reading between parents and preschoolers predicts later language and literacy outcomes in typically developing children.The affective quality of early shared reading predicts children's motivation to read independently in later childhood.Children at family risk of dyslexia are more likely than their peers with no family risk to have difficulty learning to read and may show weaknesses in oral language skills. What this paper adds The linguistic and affective quality of shared reading between mothers and preschool children is broadly similar when children are at family risk of dyslexia compared with no family risk.The type and quantity of extra-textual talk contributed by mothers and children appears to differ according to the familiarity of the storybook, but replication of the findings in a larger sample is required.The linguistic and affective quality of shared reading is related to maternal language skills. Implications for theory, policy or practice Shared storybook reading offers rich language learning opportunities for children at family risk of dyslexia.Maternal language skills may be an important determinant of the interactional quality of shared reading.The linguistic and affective quality of shared reading is not clearly associated with maternal reading difficulties.

Breadth versus depth: Cumulative risk model and continuous measure prediction of poor language and reading outcomes at 12.

This study examines whether, and how, multiple risks in early childhood are associated with an increased likelihood of a poor language or literacy outcome in early adolescence. Using data from 210 participants in the longitudinal Twins Early Developmental Study, we focus on the following risk factors at age 4: family risk, and poor language, speech, emergent literacy and nonverbal skills. The outcomes of interest at age 12 are language, reading fluency and reading comprehension. We contrast a 'cumulative risk' model, counting the presence or absence of each risk factor (breadth), with a model that also considers the severity of the early deficits (depth). A 'cumulative risk index' correlated modestly but significantly with outcome (r = 0.32-0.40). Odds ratios confirmed that having many risk factors (3-6) confers a higher probability of a poor outcome (OR 7.86-17.71) than having one or two (OR 3.65-7.28). Logistic regression models showed that predictive validity is not improved by including information about the severity of each deficit. Even with rich information on children's risk status at age 4, we can make only a moderately accurate prediction of the likelihood of a language or literacy disorder 8 years later (Area Under the Curve = 0.74-0.84; Positive Predictive Value = 0.33-0.55, Negative Predictive Value = 0.86-0.91). Taken together, and consistent with the idea of 'cumulative risk', these results suggest that the breadth of risk is a core predictor of outcome, and furthermore, that the severity of early deficits does not add significantly to this prediction.

Mind-Mindedness and Stress in Parents of Children with Developmental Disorders.

Relations between mind-mindedness (assessed using the describe-your-child interview) and stress were investigated in parents of children with developmental disorders (ADHD, n = 51, ASD, n = 23, Down's Syndrome, n = 38, and 22q11.2 Deletion Syndrome, 22q11.2DS, n = 32) and typically-developing children (n = 89). Mind-mindedness did not differ across diagnostic groups, and mind-mindedness predicted parenting stress across groups. Parenting stress was lowest in the typically-developing and Down's Syndrome groups. Across all groups, mind-minded and positive descriptions predicted lower parenting stress, and negative descriptions predicted higher stress. In the developmental disorder groups, describing the children with reference to their disorder was negatively correlated with mind-mindedness. Results are discussed with regard to interventions for families where children have developmental disorders.

Does the Inclusion of a Genome-Wide Polygenic Score Improve Early Risk Prediction for Later Language and Literacy Delay?

Purpose The ability to identify children early in development who are at substantial risk for language/literacy difficulties would have great benefit both for the children and for the educational and therapeutic institutions that serve them. Information that is relatively easily available prior to the age of 3 years, such as late talking, family history of language/literacy difficulties, and socioeconomic status, have some but very limited predictive power. Here, we examine whether the inclusion of a DNA-based genome-wide polygenic score that has been shown to capture children's genetic propensity for educational attainment (EA3) adds enough prediction to yield a clinically useful score. Method Data are longitudinal scores of 1,420 children from the Twins Early Development Study, who were assessed at ages 2 and 3 years on language and nonverbal ability and at 12 years of age on oral language, word decoding, and reading comprehension. Five risk factors were examined: expressive vocabulary, nonverbal ability (these two from parent report), family history, mothers' education, and EA3. Analyses were conducted both for continuous and categorically defined measures of risk and outcome. Results Language and literacy abilities at 12 years of age were significantly but modestly predicted by the risk factors, with a small but significant added prediction from EA3. Indices of diagnostic validity for poor outcomes, such as sensitivity and area under the curve statistics, were poor in all cases. Conclusions We conclude that, at present, clinically useful prediction from toddlerhood remains an unattained goal. Supplemental Material https://doi.org/10.23641/asha.12170331.

Dyslexia and Developmental Language Disorder: comorbid disorders with distinct effects on reading comprehension.

BACKGROUND: Reading comprehension draws on both decoding and linguistic comprehension, and poor reading comprehension can be the consequence of a deficit in either of these skills. METHODS: Using outcome data from the longitudinal Wellcome Language and Reading Project, we identified three groups of children at age 8 years: children with dyslexia (N = 21) who had deficits in decoding but not oral language, children with Developmental Language Disorder (DLD; N = 38) whose decoding skills were in the normal range, and children who met criteria for both dyslexia and DLD (N = 29). RESULTS: All three groups had reading comprehension difficulties at the ages of 8 and 9 years relative to TD controls though those of the children with dyslexia were mild (relative to TD controls, d = 0.51 at age 8, d = 0.60 at age 8); while the most severe problems were found in the comorbid dyslexia + DLD group (d = 1.79 at age 8, d = 2.06 at age 9) those with DLD also had significant difficulties (d = 1.56 at age 8, d = 1.56 at age 9). CONCLUSIONS: These findings confirm that children with dyslexia or DLD are at-risk for reading comprehension difficulties but for different reasons, because of weak decoding in the case of dyslexia or weak oral language skills in the case of DLD. Different forms of intervention are required for these groups of children, targeted to their particular area(s) of weakness.

Recommendations for acquisition and interpretation of MRI of the spine and sacroiliac joints in the diagnosis of axial spondyloarthritis in the UK.

OBJECTIVES: To develop evidence-based recommendations on the use of MRI in the diagnosis of axial SpA (axSpA). METHODS: A working group comprising nine rheumatologists and nine musculoskeletal radiologists with an interest in axSpA was established, with support from the British Society of Spondyloarthritis (BRITSpA). Two meetings were held. In the first meeting, research questions were formulated. In the second meeting, the results of a systematic literature review designed to inform the recommendations were reviewed. An anonymized Delphi process was used to formulate the final set of recommendations. For each recommendation, the level of evidence and strength of recommendation was determined. The level of agreement was assessed using a 0-10 numerical rating scale. RESULTS: Two overarching principles were formulated, as follows: The diagnosis of axSpA is based on clinical, laboratory and imaging features (overarching principle 1), and patients with axSpA can have isolated inflammation of either the sacroiliac joints or the spine (overarching principle 2). Seven recommendations addressing the use of MRI in the assessment of patients with suspected axSpA were formulated, covering topics including recommended sequences, anatomical coverage, acquisition parameters and interpretation of active and structural MRI lesions. The level of agreement for each recommendation was very high (range 8.8-9.8). CONCLUSION: A joint rheumatology and radiology consensus on the acquisition and interpretation of MRI in axSpA diagnosis was achieved, and a research agenda formulated. This consensus should help standardize practice around MRI and ensure a more informed, consistent approach to the diagnosis of axSpA.

Developmental Outcomes for Children at High Risk of Dyslexia and Children With Developmental Language Disorder.

We followed children at family risk of dyslexia and children with preschool language difficulties from age 3½, comparing them with controls (N = 234). At age 8, children were classified as having dyslexia or Developmental Language Disorder (DLD) and compared at earlier time points with controls. Children with dyslexia have specific difficulties with phonology and emergent reading skills in the preschool period, whereas children with DLD, with or without dyslexia, show a wider range of impairments including significant problems with executive and motor tasks. For children with both dyslexia and DLD, difficulties with phonology are generally more severe than those observed in children with dyslexia or DLD alone. Findings confirm that poor phonology is the major cognitive risk factor for dyslexia.

Grammar Clinical Marker Yields Substantial Heritability for Language Impairments in 16-Year-Old Twins.

Purpose: There is a need for well-defined language phenotypes suitable for adolescents in twin studies and other large-scale research projects. Rice, Hoffman, and Wexler (2009) have developed a grammatical judgment measure as a clinical marker of language impairment, which has an extended developmental range to adolescence. Method: We conducted the first twin analysis, along with associated phenotypic analyses of validity, of an abridged, 20-item version of this grammatical judgment measure (GJ-20), based on telephone administration using prerecorded stimuli to 405 pairs of 16-year-olds (148 monozygotic and 257 dizygotic) drawn from the Twins Early Development Study (Haworth, Davis, & Plomin, 2012). Results: The distribution of scores is markedly skewed negatively, as expected for a potential clinical marker. Low performance on GJ-20 is associated with lower maternal education, reported learning disability (age 7 years), and low scores on language tests administered via the Twins Early Development Study (age 16 years) as well as General Certificate of Secondary Education English and Math examination performance (age 16 years). Liability threshold estimates for the genetic influence on low performance on GJ-20 are substantial, ranging from 36% with a lowest 10% criterion to 74% for a lowest 5% criterion. Conclusions: The heritability of GJ-20 scores, especially at more extreme cutoffs, along with the score distribution and association with other indicators of language impairments, provides additional evidence for the potential value of this measure as a clinical marker of specific language impairment.

The genetic architecture of oral language, reading fluency, and reading comprehension: A twin study from 7 to 16 years.

This study examines the genetic and environmental etiology underlying the development of oral language and reading skills, and the relationship between them, over a long period of developmental time spanning middle childhood and adolescence. It focuses particularly on the differential relationship between language and two different aspects of reading: reading fluency and reading comprehension. Structural equation models were applied to language and reading data at 7, 12, and 16 years from the large-scale TEDS twin study. A series of multivariate twin models show a clear patterning of oral language with reading comprehension, as distinct from reading fluency: significant but moderate genetic overlap between oral language and reading fluency (genetic correlation rg = .46-.58 at 7, 12, and 16) contrasts with very substantial genetic overlap between oral language and reading comprehension (rg = .81-.87, at 12 and 16). This pattern is even clearer in a latent factors model, fit to the data aggregated across ages, in which a single factor representing oral language and reading comprehension is correlated with-but distinct from-a second factor representing reading fluency. A distinction between oral language and reading fluency is also apparent in different developmental trajectories: While the heritability of oral language increases over the period from 7 to 12 to 16 years (from h² = .27 to .47 to .55), the heritability of reading fluency is high and largely stable over the same period of time (h² = .73 to .71 to .64). (PsycINFO Database Record

When does speech sound disorder matter for literacy? The role of disordered speech errors, co-occurring language impairment and family risk of dyslexia.

BACKGROUND: This study considers the role of early speech difficulties in literacy development, in the context of additional risk factors. METHOD: Children were identified with speech sound disorder (SSD) at the age of 3½ years, on the basis of performance on the Diagnostic Evaluation of Articulation and Phonology. Their literacy skills were assessed at the start of formal reading instruction (age 5½), using measures of phoneme awareness, word-level reading and spelling; and 3 years later (age 8), using measures of word-level reading, spelling and reading comprehension. RESULTS: The presence of early SSD conferred a small but significant risk of poor phonemic skills and spelling at the age of 5½ and of poor word reading at the age of 8. Furthermore, within the group with SSD, the persistence of speech difficulties to the point of school entry was associated with poorer emergent literacy skills, and children with 'disordered' speech errors had poorer word reading skills than children whose speech errors indicated 'delay'. In contrast, the initial severity of SSD was not a significant predictor of reading development. Beyond the domain of speech, the presence of a co-occurring language impairment was strongly predictive of literacy skills and having a family risk of dyslexia predicted additional variance in literacy at both time-points. CONCLUSIONS: Early SSD alone has only modest effects on literacy development but when additional risk factors are present, these can have serious negative consequences, consistent with the view that multiple risks accumulate to predict reading disorders.

Further evidence for a parent-of-origin effect at the NOP9 locus on language-related phenotypes.

BACKGROUND: Specific language impairment (SLI) is a common neurodevelopmental disorder, observed in 5-10 % of children. Family and twin studies suggest a strong genetic component, but relatively few candidate genes have been reported to date. A recent genome-wide association study (GWAS) described the first statistically significant association specifically for a SLI cohort between a missense variant (rs4280164) in the NOP9 gene and language-related phenotypes under a parent-of-origin model. Replications of these findings are particularly challenging because the availability of parental DNA is required. METHODS: We used two independent family-based cohorts characterised with reading- and language-related traits: a longitudinal cohort (n = 106 informative families) including children with language and reading difficulties and a nuclear family cohort (n = 264 families) selected for dyslexia. RESULTS: We observed association with language-related measures when modelling for parent-of-origin effects at the NOP9 locus in both cohorts: minimum P = 0.001 for phonological awareness with a paternal effect in the first cohort and minimum P = 0.0004 for irregular word reading with a maternal effect in the second cohort. Allelic and parental trends were not consistent when compared to the original study. CONCLUSIONS: A parent-of-origin effect at this locus was detected in both cohorts, albeit with different trends. These findings contribute in interpreting the original GWAS report and support further investigations of the NOP9 locus and its role in language-related traits. A systematic evaluation of parent-of-origin effects in genetic association studies has the potential to reveal novel mechanisms underlying complex traits.

The Home Literacy Environment as a Predictor of the Early Literacy Development of Children at Family-Risk of Dyslexia.

The home literacy environment (HLE) predicts language and reading development in typically developing children; relatively little is known about its association with literacy development in children at family-risk of dyslexia. We assessed the HLE at age 4 years, precursor literacy skills at age 5, and literacy outcomes at age 6, in a sample of children at family-risk of dyslexia (n = 116) and children with no known risk (n = 72). Developmental relationships between the HLE and literacy were comparable between the groups; an additional effect of storybook exposure on phoneme awareness was observed in the family-risk group only. The effects of socioeconomic status on literacy were partially mediated by variations in the HLE; in turn, effects of the HLE on literacy were mediated by precursor skills (oral language, phoneme awareness, and emergent decoding) in both groups. Findings are discussed in terms of possible gene-environment correlation mechanisms underpinning atypical literacy development.