ABSTRACT
Neurodevelopmental disorders are best conceptualised as the result of multiple risk factors, which accumulate and determine the likelihood of reaching the threshold for fulfilling agreed diagnostic criteria. This multiple-risk framework allows the inclusion of research findings focusing on single disorders, while highlighting the need for extending and specifying existing causal models. Such specifications need to address at least three challenges: First, causal models need to account for the heterogeneity of symptoms within neurodevelopmental disorders, the dissociations between disorders, and also the high comorbidity rates observed between them. Second, causal models need to take into account the fact that associations between risk factors and psychopathology may be developmentally conditioned and are likely to change over time. Third, causal models need to incorporate a better understanding of the causal pathways between neurobiological risk factors and their interaction with environmental risk factors. Several articles in the present issue address these challenges, by assessing the interplay between neurobiological and environmental risk factors, and their impact on psychopathology, and by investigating how this relationship changes over time.
Subject(s)
Neurodevelopmental Disorders , Humans , Neurodevelopmental Disorders/epidemiology , Neurodevelopmental Disorders/etiology , Psychopathology , Risk Factors , ComorbidityABSTRACT
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.
Subject(s)
Functional Laterality , Reading , Humans , Child , Adolescent , Young Adult , Adult , Prevalence , Language , BrainABSTRACT
BACKGROUND: Both learning disorders and bullying are major sources of public concern. Children with learning disorders often suffer from social rejection, potentially rendering them more susceptible to bullying involvement. Bullying involvement leads to a higher risk towards developing various problems including self-harm and suicidality. Past research on whether learning disorders are childhood bullying risk factors yielded inconsistent results. METHODS: The current study used path analyses on a representative sample of 2,925 German 3rd and 4th grades to examine whether learning disorders are a direct bullying risk factor, or whether their impact depends on psychiatric comorbidity. More so, the current study sought to examine whether associations differ between children with and without learning disorders, compare different bullying roles (i.e., only victim, only bully, or bully-victim), compare gender, and control for IQ and socioeconomic status. RESULTS: Results indicated that learning disorders are not a direct but rather an indirect childhood risk factor for bully-victim involvement, depending on psychiatric comorbidity with internalizing or externalizing disorders. Regarding the comparison between the samples of children with and without learning disorders, an overall difference and a difference in the path between spelling and externalizing disorders emerged. No difference for different bullying roles (i.e., only victim, only bully) emerged. Negligible differences emerged when IQ and socioeconomic status were controlled. An overall gender difference emerged, compatible with past research, indicating higher bullying involvement among boys compared to girls. CONCLUSION: Children with learning disorders are at a higher risk of having psychiatric comorbidity, which in turn renders them at a higher risk of bullying involvement. Implications for bullying interventions and school professionals are deduced.
Subject(s)
Bullying , Crime Victims , Learning Disabilities , Self-Injurious Behavior , Male , Child , Female , Humans , Bullying/psychology , Comorbidity , Suicidal Ideation , Crime Victims/psychologyABSTRACT
German skilled readers have been found to engage in morphological and syllable-based processing in visual word recognition. However, the relative reliance on syllables and morphemes in reading multi-syllabic complex words is still unresolved. This study aimed to unveil which of these sublexical units are the preferred units of reading by employing eye-tracking technology. Participants silently read sentences while their eye-movements were recorded. Words were visually marked using colour alternation (Experiment 1) or hyphenation (Experiment 2)-at syllable boundary (e.g., Kir-schen), at morpheme boundary (e.g., Kirsch-en), or within the units themselves (e.g., Ki-rschen). A control condition without disruptions was used as a baseline (e.g., Kirschen). The results of Experiment 1 showed that eye-movements were not modulated by colour alternations. The results of Experiment 2 indicated that hyphens disrupting syllables had a larger inhibitory effect on reading times than hyphens disrupting morphemes, suggesting that eye-movements in German skilled readers are more influenced by syllabic than morphological structure.
Subject(s)
Eye-Tracking Technology , Language , Humans , Eye MovementsABSTRACT
In many countries, intervention costs are not covered by public health care. A critical basis for deciding whether an intervention is covered or not is to analyse the relation between benefits and costs of the intervention, and to quantify the consequential costs. In this study, a cost-utility analysis was computed to investigate the costs of individualized dyslexia intervention while quantifying the benefit in terms of health-related quality of life in a sample of 36 individuals with dyslexia. In addition, educational outcomes and costs of untreated dyslexia for the society were estimated using information for class repetition, school success, and unemployment rates from previous studies and official statistics. A significant increase in quality of life with medium effect sizes was found across all quality-of-life measures. Increases in quality of life were domain-specific, thus occurring specifically in those domains that are affected by learning disorders. The cost-utility ratio was 9,782 Euros per quality adjusted life years (QALYs), which is in line with similar therapy forms, such as speech therapy. The loss of productivity for untreated dyslexia in the German population was estimated for class repetition and reduced income due to lower school degrees. The cost-utility analysis and the calculation of consequential costs suggest that the dyslexia intervention is cost-effective.
Subject(s)
Dyslexia , Quality of Life , Humans , Cost-Benefit Analysis , Cost-Effectiveness Analysis , Quality-Adjusted Life YearsABSTRACT
Orthographies vary in complexity (the number of multi-letter grapheme-phoneme rules describing print-to-speech regularities) and unpredictability (the number of words which cannot be read correctly, even with at-ceiling knowledge of the rules). To assess how these constructs affect reading acquisition, we used an artificial orthography learning paradigm, where participants learn to read pseudowords written in unfamiliar symbols, and subsequently read aloud novel words written in the same symbols (generalisation). In three experiments (third experiment pre-registered), we manipulated the consistency of symbol-to-sound mappings: in the first inconsistent condition, vowel pronunciation depended on the subsequent letter (condition complexity), and in the second inconsistent condition, vowel pronunciation was unpredictable from the context (condition unpredictability). Across experiments, we found that pseudowords with inconsistent mappings are more difficult to learn than pseudowords with consistent mappings only, regardless of whether the inconsistency is due to complexity or unpredictability. Numerically, participants learning orthographies containing unpredictable correspondences seem to be less likely to form rules, either for simple or for complex correspondences. We propose that rule extraction and distributional learning happens simultaneously during reading acquisition: in a mathematical model, we show that distributional learning may lead to more complete knowledge than rule extraction for orthographies that are high in unpredictability.
Subject(s)
Language , Reading , Humans , Learning , Phonetics , Speech , WritingABSTRACT
Artificial Orthography Learning (AOL) may act as a possible candidate to model the learning of print-to-speech correspondences. In order to serve as an adequate task, however, we need to establish whether AOL can be reliably measured. In the current study, we report the correlations between the learning of two different artificial orthographies by the same 55 participants. We also explore the correlation between AOL skill and other participant-level variables, namely Paired Associate Learning (PAL) performance, word and nonword reading ability, and age. We find high correlations between learning of two different artificial orthographies. Correlations with reading fluency and PAL are low. These results leave questions about the link between reading acquisition and AOL. At the same time, they show that AOL ability can be reliably measured and justify its use for future studies.
ABSTRACT
Developmental dyslexia (DD) is a learning disorder affecting the ability to read, with a heritability of 40-60%. A notable part of this heritability remains unexplained, and large genetic studies are warranted to identify new susceptibility genes and clarify the genetic bases of dyslexia. We carried out a genome-wide association study (GWAS) on 2274 dyslexia cases and 6272 controls, testing associations at the single variant, gene, and pathway level, and estimating heritability using single-nucleotide polymorphism (SNP) data. We also calculated polygenic scores (PGSs) based on large-scale GWAS data for different neuropsychiatric disorders and cortical brain measures, educational attainment, and fluid intelligence, testing them for association with dyslexia status in our sample. We observed statistically significant (p < 2.8 × 10-6) enrichment of associations at the gene level, for LOC388780 (20p13; uncharacterized gene), and for VEPH1 (3q25), a gene implicated in brain development. We estimated an SNP-based heritability of 20-25% for DD, and observed significant associations of dyslexia risk with PGSs for attention deficit hyperactivity disorder (at pT = 0.05 in the training GWAS: OR = 1.23[1.16; 1.30] per standard deviation increase; p = 8 × 10-13), bipolar disorder (1.53[1.44; 1.63]; p = 1 × 10-43), schizophrenia (1.36[1.28; 1.45]; p = 4 × 10-22), psychiatric cross-disorder susceptibility (1.23[1.16; 1.30]; p = 3 × 10-12), cortical thickness of the transverse temporal gyrus (0.90[0.86; 0.96]; p = 5 × 10-4), educational attainment (0.86[0.82; 0.91]; p = 2 × 10-7), and intelligence (0.72[0.68; 0.76]; p = 9 × 10-29). This study suggests an important contribution of common genetic variants to dyslexia risk, and novel genomic overlaps with psychiatric conditions like bipolar disorder, schizophrenia, and cross-disorder susceptibility. Moreover, it revealed the presence of shared genetic foundations with a neural correlate previously implicated in dyslexia by neuroimaging evidence.
Subject(s)
Dyslexia , Multifactorial Inheritance , Polymorphism, Single Nucleotide , Attention Deficit Disorder with Hyperactivity/genetics , Dyslexia/genetics , Genetic Predisposition to Disease , Genome-Wide Association Study , Humans , Intracellular Signaling Peptides and Proteins/geneticsABSTRACT
Disorders of reading and mathematics co-occur at greater than chance rates, but they are often studied separately. This article reports the reading and arithmetic outcomes at 9 years of age from a longitudinal study of 224 children at high risk for dyslexia. Using a cutoff at the 10th centile, groups of children with reading disorder (RD), mathematics disorder (MD), and comorbid reading disorder and math disorder (RD&MD) were identified. The risk of these disorders was elevated in children selected in preschool with language difficulties or at family risk for dyslexia. There was a high degree of comorbidity between RD and MD, and many cases-particularly in the comorbid group-also reached the diagnostic threshold for developmental language disorder (DLD). On measures of language, phoneme awareness, rapid automatized naming (RAN) digits, and rated inattention, there was a stepwise pattern: RD > MD > RD&MD. Poor language was associated with each disorder and appears to be a cognitive risk factor for RD, MD, and RD&MD. These findings suggest that there are shared genetic risk factors operating for both RD and MD.
Subject(s)
Developmental Disabilities/complications , Dyslexia/etiology , Mathematics , Reading , Child , Child, Preschool , Humans , Longitudinal Studies , Risk FactorsABSTRACT
Deficits in reading fluency and in spelling can dissociate during development, resulting in groups with reading deficit only (RD), spelling deficit only (SD) and combined reading and spelling deficit (RSD). The current study investigated the one-to-two-year longitudinal stability of these subgroups in 167 German-speaking children. Reading fluency deficits (irrespective of spelling skills) were stable over time, while spelling deficits were stable in the RSD-group but not in the SD-group. Lower stability in the SD-group resulted from the fact that many children improved their spelling skills over time. Improvement in spelling was associated with good performance in phoneme awareness together with intact RAN and decoding skills.
ABSTRACT
Dissociations between reading and spelling deficits are likely to be associated with distinct deficits in orthographic word processing. To specify differences in automatic visual word recognition, the current ERP-study compared children with isolated reading fluency deficits (iRD), isolated spelling deficits (iSD), and combined reading fluency and spelling deficits (cRSD) as well as typically developing (TD) 10-year-olds while performing a variant of the Reicher-Wheeler paradigm: children had to indicate which of two letters occurred at a given position in a previously presented word, legal pseudoword, illegal pseudoword or nonword. Event-related potentials (N200 and N400) associated with sublexical orthographic and lexical orthographic processing as well as phonological word processing were analyzed. All groups showed a word superiority effect, both on the behavioral and the neurophysiological level. Group differences occurred for phonological word processing. TD and iRD groups showed a higher N400 activation for illegal pseudowords than for nonwords, while the two spelling deficit groups showed no activation differences between these two stimuli conditions. The findings suggest that differences in phonological word processing are associated with spelling problems: children with iSD showed reduced sensitivity for phonological word processing, while these deficits were not evident in children with iRD.
Subject(s)
Dyslexia/physiopathology , Evoked Potentials/physiology , Reading , Child , Child, Preschool , Electroencephalography/methods , Female , Germany , Humans , Language , Male , PhoneticsABSTRACT
OBJECTIVE: Reading fluency deficits characteristic for reading disorders (RD; F81.0) have been shown to be strongly associated with slow naming speed (e.g. in rapid automatized naming tasks). In contrast, children with an isolated spelling disorder in the context of unimpaired reading skills (iSD; F81.1) show naming speed task performances that are similar to typically developing (TD) children. However, the exact nature of the naming speed deficit and its relation to RD and the question whether children with iSD are also on the neurophysiological level similar to TD children is still unresolved. METHODS: The time-course and scalp topography of event-related potentials (ERP) activity recorded during a delayed digit-naming task was investigated in ten-year-old children with RD and iSD compared to a TD group. RESULTS: ERP activity differed between the RD and the TD group at around 300 ms after stimulus presentation (left occipito-temporal P2). In contrast, there were no neurophysiological differences between the TD and the iSD group. The P2 component correlated with behavioural performance on the RAN task. CONCLUSIONS: Slow naming speed in RD might result from a slowed-down access and prolonged processing of the word (lexical) form. SIGNIFICANCE: The study establishes a relation between neurophysiological processes of naming tasks and RD.
Subject(s)
Dyslexia/physiopathology , Evoked Potentials , Child , Dyslexia/classification , Female , Humans , Male , Occipital Lobe/physiopathology , Reading , Temporal Lobe/physiopathology , WritingABSTRACT
Languages differ in the consistency with which they map orthography to phonology, and a large body of work now shows that orthographic consistency determines the style of word decoding in monolinguals. Here, we characterise word decoding in bilinguals whose two languages differ in orthographic consistency, assessing whether they maintain two distinct reading styles or settle on a single 'compromise' reading style. In Experiment 1, Welsh-English bilinguals read cognates and pseudowords embedded in Welsh and English sentences. Eye-movements revealed that bilinguals dynamically alter their decoding strategy according to the language context, including more fixations during lexical access for cognates in the more consistent orthography (Welsh) than in the less consistent orthography (English), and these effects were specific to word (as opposed to pseudoword) processing. In Experiment 2, we compared the same bilinguals' eye movements in the English sentence reading context to those of monolinguals'. Bilinguals' eye-movement behaviour was very similar to monolinguals' when reading English, suggesting that their knowledge of the more consistent orthography (Welsh) did not alter their decoding style when reading in English. This study presents the first characterisation of bilingual decoding style in sentence reading. We discuss our findings in relation to connectionist reading models and models of bilingual visual word recognition.
Subject(s)
Multilingualism , Pattern Recognition, Visual/physiology , Psycholinguistics , Reading , Adult , Eye Movement Measurements , Female , Humans , Male , Young AdultABSTRACT
Developmental dyslexia (DD) is one of the most prevalent learning disorders, with high impact on school and psychosocial development and high comorbidity with conditions like attention-deficit hyperactivity disorder (ADHD), depression, and anxiety. DD is characterized by deficits in different cognitive skills, including word reading, spelling, rapid naming, and phonology. To investigate the genetic basis of DD, we conducted a genome-wide association study (GWAS) of these skills within one of the largest studies available, including nine cohorts of reading-impaired and typically developing children of European ancestry (N = 2562-3468). We observed a genome-wide significant effect (p < 1 × 10-8) on rapid automatized naming of letters (RANlet) for variants on 18q12.2, within MIR924HG (micro-RNA 924 host gene; rs17663182 p = 4.73 × 10-9), and a suggestive association on 8q12.3 within NKAIN3 (encoding a cation transporter; rs16928927, p = 2.25 × 10-8). rs17663182 (18q12.2) also showed genome-wide significant multivariate associations with RAN measures (p = 1.15 × 10-8) and with all the cognitive traits tested (p = 3.07 × 10-8), suggesting (relational) pleiotropic effects of this variant. A polygenic risk score (PRS) analysis revealed significant genetic overlaps of some of the DD-related traits with educational attainment (EDUyears) and ADHD. Reading and spelling abilities were positively associated with EDUyears (p ~ [10-5-10-7]) and negatively associated with ADHD PRS (p ~ [10-8-10-17]). This corroborates a long-standing hypothesis on the partly shared genetic etiology of DD and ADHD, at the genome-wide level. Our findings suggest new candidate DD susceptibility genes and provide new insights into the genetics of dyslexia and its comorbities.
Subject(s)
Cognition , Dyslexia/genetics , Dyslexia/psychology , Adolescent , Adult , Child , Cohort Studies , Female , Genetic Predisposition to Disease , Genome-Wide Association Study , Genotype , Humans , Male , Multifactorial Inheritance , Polymorphism, Single Nucleotide , Young AdultABSTRACT
Dissociations between reading and spelling problems are likely to be associated with different underlying cognitive deficits, and with different deficits in orthographic learning. In order to understand these differences, the current study examined orthographic learning using a printed-word learning paradigm. Children (4th grade) with isolated reading, isolated spelling and combined reading and spelling problems were compared to children with age appropriate reading and spelling skills on their performance during learning novel words and symbols (non-verbal control condition), and during immediate and delayed reading and spelling recall tasks. No group differences occurred in the non-verbal control condition. In the verbal condition, initial learning was intact in all groups, but differences occurred during recall tasks. Children with reading fluency deficits showed slower reading times, while children with spelling deficits were less accurate, both in reading and spelling recall. Children with isolated spelling problems showed no difficulties in immediate spelling recall, but had problems in remembering the spellings 2 hours later. The results suggest that different orthographic learning deficits underlie reading fluency and spelling problems: Children with isolated reading fluency deficits have no difficulties in building-up orthographic representations, but access to these representations is slowed down while children with isolated spelling deficits have problems in storing precise orthographic representations in long-term memory.
Subject(s)
Comprehension/physiology , Dyslexia/psychology , Learning/physiology , Phonetics , Reading , Child , Female , Humans , Language , MaleABSTRACT
The present study investigated whether children with a typical dyslexia profile and children with isolated spelling deficits show a distinct pattern of white matter alteration compared with typically developing peers. Relevant studies on the topic are scarce, rely on small samples, and often suffer from the limitations of conventional tensor-based methods. The present Constrained Spherical Deconvolution study includes 27 children with typical reading and spelling skills, 21 children with dyslexia and 21 children with isolated spelling deficits. Group differences along major white matter tracts were quantified utilizing the Automated Fiber Quantification software and a lateralization index was calculated in order to investigate the structural asymmetry of the tracts. The two deficit groups mostly displayed different patterns of white matter alterations, located in the bilateral inferior longitudinal fasciculi, right superior longitudinal fasciculus, and cingulum for the group with dyslexia and in the left arcuate fasciculus for the group with isolated spelling deficits. The two deficit groups differed also with respect to structural asymmetry. Children with dyslexia did not show the typical leftward asymmetry of the arcuate fasciculus, whereas the group with isolated spelling deficits showed absent rightward asymmetry of the inferior fronto-occipital fasciculus. This study adds evidence to the notion that different profiles of combined or isolated reading and spelling deficits are associated with different neural signatures.
Subject(s)
Brain/pathology , Dyslexia/pathology , Language Development Disorders/pathology , Neural Pathways/pathology , White Matter/pathology , Brain/diagnostic imaging , Brain Mapping/methods , Child , Diffusion Tensor Imaging/methods , Dyslexia/diagnostic imaging , Female , Humans , Language Development Disorders/diagnostic imaging , Male , Neural Pathways/diagnostic imaging , White Matter/diagnostic imagingABSTRACT
BACKGROUND: Reading disorder (RD) and mathematics disorder (MD) frequently co-occur. However, the exact comorbidity rates differ largely between studies. Given that MD is characterised by high heterogeneity on the symptom level, differences in comorbidity rates may result from different mathematical subskills used to define MD. Comorbidity rates with RD are likely to be higher when MD is measured by mathematical subskills that do not only build on number processing, but also require language (i.e. arithmetic fluency), than when measured by magnitude processing skills. METHODS: The association between literacy, arithmetic fluency and magnitude processing as well as the overlap between deficits in these domains were assessed in a representative sample of 1,454 third Graders. RESULTS: Associations were significantly higher between literacy and arithmetic, than between literacy and magnitude processing. This was also reflected in comorbidity rates: comorbidity rates between literacy and arithmetic deficits were four times higher than expected by chance, whereas comorbidity rates between literacy and magnitude processing deficits did not exceed chance rate. Deficits in the two mathematical subskills showed some overlap, but also revealed dissociations, corroborating the high heterogeneity of MD. Results are interpreted within a multiple-deficit framework and implications for diagnosis and intervention are discussed. CONCLUSIONS: The overlap between RD and MD depends on the subskills used to define MD. Due to shared domain-general factors mathematical subskills that draw on language skills are more strongly associated with literacy than those that do not require language. The findings further indicate that the same symptom, such as deficits in arithmetic, can be associated with different cognitive deficits, a deficit in language skills or a deficit in number processing.
Subject(s)
Cognitive Dysfunction/epidemiology , Dyscalculia/epidemiology , Dyslexia/epidemiology , Language , Mathematical Concepts , Child , Cognitive Dysfunction/diagnosis , Comorbidity , Dyscalculia/diagnosis , Dyslexia/diagnosis , Female , Germany/epidemiology , Humans , Male , PrevalenceABSTRACT
Efficient and automatic integration of letters and speech sounds is assumed to enable fluent word recognition and may in turn also underlie the build-up of high-quality orthographic representations, which are relevant for accurate spelling. While previous research showed that developmental dyslexia is associated with deficient letter-speech sound integration, these studies did not differentiate between subcomponents of literacy skills. In order to investigate whether deficient letter-speech sound integration is associated with deficits in reading and/or spelling, three groups of third graders were recruited: (1) children with combined deficits in reading and spelling (RSD, N = 10); (2) children with isolated spelling deficit (ISD, N = 17); and (3) typically developing children (TD, N = 21). We assessed the neural correlates (EEG) of letter-speech sound integration using a Stroop-like interference paradigm: participants had to decide whether two visually presented letters look identical. In case of non-identical letter pairs, conflict items were the same letter in lower and upper case (e.g., "T t"), while non-conflict items were different letters (e.g., "T k"). In terms of behavioral results, each of the three groups exhibited a comparable amount of conflict-related reaction time (RT) increase, which may be a sign for no general inhibitory deficits. Event-related potentials (ERPs), on the other hand, revealed group-based differences: the amplitudes of the centro-parietal conflict slow potential (cSP) were increased for conflicting items in typical readers as well as the ISD group. Preliminary results suggest that this effect was missing for children with RSD. The results suggest that deficits in automatized letter-speech sound associations are associated with reading deficit, but no impairment was observed in spelling deficit.
ABSTRACT
Reading and spelling abilities are thought to be highly correlated during development, and orthographic knowledge is assumed to underpin both literacy skills. Interestingly, recent studies showed that reading and spelling skills can also dissociate. The current study investigated whether spelling skills (indicating orthographic knowledge) are associated with the application of orthographic strategies during reading. We examined eye movements of 137 third- and fourth-graders who were either good or poor readers with or without a spelling deficit: 43 children with typical reading and spelling skills, 28 with isolated spelling deficits, 28 with isolated reading deficits, and 38 with combined reading and spelling deficits. Although we expected to find reduced reliance on orthographic reading processes among poor spellers, this was evident for the group with combined deficits only. Both isolated deficit groups applied sublexical and lexical processes in a similar amount to typically developing children. Our findings suggest that reading rests on orthographic strategies even if lexical representations are poor as indicated by a deficit in spelling skills. Findings also show that dysfluent reading does not result only from overreliance on decoding.