title: Cognitive and familial risk evidence converged: A data-driven identification of distinct and homogeneous subtypes within the heterogeneous sample of reading disabled children.
abstract: The evident degree of heterogeneity observed in reading disabled children has puzzled reading researchers for decades. Recent advances in the genetic underpinnings of reading disability have indicated that the heritable, familial risk for dyslexia is a major risk factor. The present data-driven, classification attempt aims to revisit the possibility of identifying distinct cognitive deficit profiles in a large sample of second to fourth grade reading disabled children. In this sample, we investigated whether genetic and environmental risk factors are able to distinguish between poor reader subtypes. In this profile, we included reading-related measures of phonemic awareness, letter-speech sound processing and rapid naming, known as candidate vulnerability markers associated with dyslexia and familial risk for dyslexia, as well as general cognitive abilities (non-verbal IQ and vocabulary). Clustering was based on a 200 multi-start K-means approach. Results revealed four emerging subtypes of which the first subtype showed no cognitive deficits underlying their poor reading skills (Reading-only impaired poor readers). The other three subtypes shared a core phonological deficit (PA) with a variable and discriminative expression across the other underlying vulnerability markers. More specific, type 2 showed low to poor performance across all reading-related and general cognitive abilities (general poor readers), type 3 showed a specific letter-speech sound mapping deficit next to a PA deficit (PA-LS specific poor readers) and type 4 showed a specific rapid naming deficit complementing their phonological weakness (PA-RAN specific poor readers). The first three poor reader profiles were more characterized by variable environmental risk factor, while the fourth, PA-RAN poor reader subtype showed a significantly strong familial risk for dyslexia. Overall, when we zoom in on the heterogeneous phenomenon of reading disability, unique and distinct cognitive subtypes can be identified, distinguishing between those poor readers more influences by the role of genes and those more influenced by environmental risk factors. Taking into account this diversity of distinct cognitive subtypes, instead of looking at the reading disabled sample as a whole, will help tailor future diagnostic and intervention efforts more specifically to the needs of children with such a specific deficit and risk pattern, as well as providing a more promising way forward for genetic studies of dyslexia.
authors.affiliation: Department of Cognitive Neuroscience, Faculty of Psychology & Neuroscience, Maastricht University, and Maastricht Brain Imaging Centre (M-BIC), P.O. Box 616, 6200 MD Maastricht, The Netherlands. Electronic address: g.willems@maastrichtuniversity.nl.
authors.forename: Gonny
authors.initials: G
authors.lastname: Willems
authors.affiliation: Department of Cognitive Neuroscience, Faculty of Psychology & Neuroscience, Maastricht University, and Maastricht Brain Imaging Centre (M-BIC), P.O. Box 616, 6200 MD Maastricht, The Netherlands. Electronic address: b.jansma@maastrichtuniversity.nl.
authors.forename: Bernadette
authors.initials: B
authors.lastname: Jansma
authors.affiliation: Department of Cognitive Neuroscience, Faculty of Psychology & Neuroscience, Maastricht University, and Maastricht Brain Imaging Centre (M-BIC), P.O. Box 616, 6200 MD Maastricht, The Netherlands.
authors.forename: Leo
authors.initials: L
authors.lastname: Blomert
authors.affiliation: Department of Cognitive Neuroscience, Faculty of Psychology & Neuroscience, Maastricht University, and Maastricht Brain Imaging Centre (M-BIC), P.O. Box 616, 6200 MD Maastricht, The Netherlands. Electronic address: a.vaessen@rid.nl.
authors.forename: Anniek
authors.initials: A
authors.lastname: Vaessen
mesh_terms: D002648:Child; D016000:Cluster Analysis; D060825:Cognitive Dysfunction / Q000235:genetics / Q000503:physiopathology / Q000523:psychology*; D004410:Dyslexia / Q000145:classification / Q000235:genetics / Q000503:physiopathology / Q000523:psychology*; D005190:Family; D005260:Female; D006801:Humans; D008297:Male; D010641:Phenotype; D010700:Phonetics; D012307:Risk Factors; D014825:Vocabulary
keywords: Cognitive profiling; Data-driven clustering; Dyslexia deficits; Familial risk and environmental risk factors; Subtypes of reading disability