0000000000346336
AUTHOR
Kristina Moll
Genome-wide association study reveals new insights into the heritability and genetic correlates of developmental dyslexia
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,…
Predictors of developmental dyslexia in European orthographies with varying complexity
Background: The relationship between phoneme awareness, rapid automatized naming (RAN), verbal short-term/working memory (ST/WM) and diagnostic category is investigated in control and dyslexic children, and the extent to which this depends on orthographic complexity. Methods: General cognitive, phonological and literacy skills were tested in 1,138 control and 1,114 dyslexic children speaking six different languages spanning a large range of orthographic complexity (Finnish, Hungarian, German, Dutch, French, English). Results: Phoneme deletion and RAN were strong concurrent predictors of developmental dyslexia, while verbal ST/WM and general verbal abilities played a comparatively minor role…
Cognitive mechanisms underlying reading and spelling development in five European orthographies
This paper addresses the question whether the cognitive underpinnings of reading and spelling are universal or language/orthography-specific. We analyzed concurrent predictions of phonological processing (awareness and memory) and rapid automatized naming (RAN) for literacy development in a
Genome-wide association scan identifies new variants associated with a cognitive predictor of dyslexia
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…
Early Cognitive Profiles Predicting Reading and Arithmetic Skills in Grades 1 and 7
The aim of this study was to investigate cognitive profiles composed of skills predicting the overlap between reading and arithmetic in kindergarten (phonological awareness, letter knowledge, rapid automatized naming, and counting sequence knowledge) and the relation of these profiles to reading and arithmetic skills at Grades 1 and 7. A total of four distinct cognitive profiles were identified in an unselected sample of 1,710 children aged 5–6 years: (1) high linguistic and high counting skills (39.2%), (2) low linguistic and low counting skills (25.4%), (3) high counting skills in relation to linguistic skills (15.3%), and (4) low counting skills in relation to linguistic skills (20.1%). …
Genome-wide association analyses of individual differences in quantitatively assessed reading- and language-related skills in up to 34,000 people
AbstractThe use of spoken and written language is a capacity that is unique to humans. Individual differences in reading- and language-related skills are influenced by genetic variation, with twin-based heritability estimates of 30-80%, depending on the trait. The relevant genetic architecture is complex, heterogeneous, and multifactorial, and yet to be investigated with well-powered studies. Here, 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, with total sample sizes ranging from 13,633 to 33,959 participants aged 5-26 years (1…
Genome Wide Association Scan identifies new variants associated with a cognitive predictor of dyslexia
AbstractDevelopmental dyslexia (DD) is one of the most prevalent learning disorders among children and is characterized by deficits in different cognitive skills, including reading, spelling, short term memory and others. To help unravel the genetic basis of these skills, we conducted a Genome Wide Association Study (GWAS), including nine cohorts of reading-impaired and typically developing children of European ancestry, recruited across different countries (N=2,562-3,468).We observed a genome-wide significant effect (p<1×10−8) on rapid automatized naming of letters (RANlet) for variants on 18q12.2 withinMIR924HG (micro-RNA 924 host gene;p= 4.73×10−9), and a suggestive association on 8q1…
Genome-wide association study reveals new insights into the heritability and genetic correlates of developmental dyslexia
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,…