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Developmental dyslexia (DD) is a multi-system disorder, combining influences of susceptibility genes and environmental factors. The causative interaction between specific genetic factors, brain regions, and personality/mental disorders, as well as specific learning disabilities, has been thoroughly investigated with regard to the approach of developing a multifaceted diagnostic procedure with an intervention strategy potential. In an attempt to add new translational evidence to the interconnection of the above factors in the occurrence of DD, we performed a combinatorial analysis of brain asymmetries, personality traits, cognitive and learning skills, and expression profiles of selected genes in an adult, early diagnosed with DD, and in his son of typical development. We focused on the expression of genes, based on the assumption that the regulation of transcription may be affected by genetic and epigenetic factors. The results highlighted a potential chain link between neuroplasticity-related as well as stress-related genes, such as BDNF, Sox4, mineralocorticoid receptor (MR), and GILZ, leftward asymmetries in the amygdala and selective cerebellum lobules, and tendencies for personality disorders and dyslexia. This correlation may reflect the presence of a specific neuro-epigenetic component of DD, ensuing from the continuous, multifaceted difficulties in the acquisition of cognitive and learning skills, which in turn may act as a fostering mechanism for the onset of long-term disorders. This is in line with recent findings demonstrating a dysfunction in processes supported by rapid neural adaptation in children and adults with dyslexia. Accordingly, the co-evaluation of all the above parameters may indicate a stress-related dyslexia endophenotype that should be carefully considered for a more integrated diagnosis and effective intervention.

Developmental dyslexia (DD) is a multifactorial, specific learning disorder. Susceptibility genes have been identified, but there is growing evidence that environmental factors, and especially stress, may act as triggering factors that determine an individual’s risk of developing DD. In DD, as in most complex phenotypes, the presence of a genetic mutation fails to explain the broad phenotypic spectrum observed. Early life stress has been repeatedly associated with the risk of multifactorial disorders, due to its effects on chromatin regulation, gene expression, HPA axis function and its long-term effects on the systemic stress response. Based on recent evidence, we discuss the potential role of stress on DD occurrence, its putative epigenetic effects on the HPA axis of affected individuals, as well as the necessity of early and appropriate intervention, based on the individual stress-associated (endo)phenotype.

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