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Identifying interactive biological pathways associated with reading disability.

ABSTRACT: INTRODUCTION:Past research has suggested that reading disability is a complex disorder involving genetic and environment contributions, as well as gene-gene and gene-environment interaction, but to date little is known about the underlying mechanisms. METHOD:Using the Avon Longitudinal Study of Parents and Children, we assessed the contributions of genetic, demographic, and environmental variables on case-control status using machine learning. We investigated the functional interactions between genes using pathway and network analysis. RESULTS:Our results support a systems approach to studying the etiology of reading disability with many genes (e.g., RAPGEF2, KIAA0319, DLC1) and biological pathways (e.g., neuron migration, positive regulation of dendrite regulation, nervous system development) interacting with each other. We found that single nucleotide variants within genes often had opposite effects and that enriched biological pathways were mediated by neuron migration. We also identified behavioral (i.e., receptive language, nonverbal intelligence, and vocabulary), demographic (i.e., mother's highest education), and environmental (i.e., birthweight) factors that influenced case-control status when accounting for genetic information. DISCUSSION:The behavioral and demographic factors were suggested to be protective against reading disability status, while birthweight conveyed risk. We provided supporting evidence that reading disability has a complex biological and environmental etiology and that there may be a shared genetic and neurobiological architecture for reading (dis)ability.

SUBMITTER: Lancaster HS

PROVIDER: S-EPMC7428467 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature

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Identifying interactive biological pathways associated with reading disability.

Lancaster Hope Sparks HS Liu Xiaonan X Dinu Valentin V Li Jing J

Brain and behavior 20200628 8

<h4>Introduction</h4>Past research has suggested that reading disability is a complex disorder involving genetic and environment contributions, as well as gene-gene and gene-environment interaction, but to date little is known about the underlying mechanisms.<h4>Method</h4>Using the Avon Longitudinal Study of Parents and Children, we assessed the contributions of genetic, demographic, and environmental variables on case-control status using machine learning. We investigated the functional intera ...[more]

PMID: 32596987

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Project description:BACKGROUND:Reading disability (RD) is a common neurodevelopmental disorder with genetic basis established in families segregating "pure" dyslexia. RD commonly occurs in neurodevelopmental disorders including Rolandic Epilepsy (RE), a complex genetic disorder. We performed genomewide linkage analysis of RD in RE families, testing the hypotheses that RD in RE families is genetically heterogenenous to pure dyslexia, and shares genetic influences with other sub-phenotypes of RE. METHODS:We initially performed genome-wide linkage analysis using 1000 STR markers in 38 US families ascertained through a RE proband; most of these families were multiplex for RD. We analyzed the data by two-point and multipoint parametric LOD score methods. We then confirmed the linkage evidence in a second US dataset of 20 RE families. We also resequenced the SEMA3C gene at the 7q21 linkage locus in members of one multiplex RE/RD pedigree and the DISC1 gene in affected pedigrees at the 1q42 locus. RESULTS:In the discovery dataset there was suggestive evidence of linkage for RD to chromosome 7q21 (two-point LOD score 3.05, multipoint LOD 3.08) and at 1q42 (two-point LOD 2.87, multipoint LOD 3.03). Much of the linkage evidence at 7q21 derived from families of French-Canadian origin, whereas the linkage evidence at 1q42 was well distributed across all the families. There was little evidence for linkage at known dyslexia loci. Combining the discovery and confirmation datasets increased the evidence at 1q42 (two-point LOD?=?3.49, multipoint HLOD?=?4.70), but decreased evidence at 7q21 (two-point LOD?=?2.28, multipoint HLOD ?=?1.81), possibly because the replication sample did not have French Canadian representation. DISCUSSION:Reading disability in rolandic epilepsy has a genetic basis and may be influenced by loci at 1q42 and, in some populations, at 7q21; there is little evidence of a role for known DYX loci discovered in "pure" dyslexia pedigrees. 1q42 and 7q21 are candidate novel dyslexia loci.

Project description:BackgroundReading disability (RD) is characterized by slow and inaccurate word reading development, commonly reflecting underlying phonological problems. We have previously shown that exposure to white noise acutely improves cognitive performance in children with ADHD. The question addressed here is whether white noise exposure yields positive outcomes also for RD. There are theoretical reasons to expect such a possibility: a) RD and ADHD are two overlapping neurodevelopmental disorders and b) since prior research on white noise benefits has suggested that a central mechanism might be the phenomenon of stochastic resonance, then adding certain kinds of white noise might strengthen the signal-to-noise ratio during phonological processing and phoneme-grapheme mapping.MethodsThe study was conducted with a group of 30 children with RD and phonological decoding difficulties and two comparison groups: one consisting of skilled readers (n = 22) and another of children with mild orthographic reading problems and age adequate phonological decoding (n = 30). White noise was presented experimentally in visual and auditory modalities, while the children performed tests of single word reading, orthographic word recognition, nonword reading, and memory recall.ResultsFor the first time, we show that visual and auditory white noise exposure improves some reading and memory capacities "on the fly" in children with RD and phonological decoding difficulties. By contrast, the comparison groups displayed either no benefit or a gradual decrease in performance with increasing noise. In interviews, we also found that the white noise exposure was tolerable or even preferred by many children.ConclusionThese novel findings suggest that poor readers with phonological decoding difficulties may be immediately helped by white noise during reading. Future research is needed to determine the robustness, mechanisms, and long-term practical implications of the white noise benefits in children with reading disabilities.

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Identifying interactive biological pathways associated with reading disability.

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Identifying interactive biological pathways associated with reading disability.

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