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Developmental dyslexia: investigation of early risk and preventive factors

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Dott. Sara Mascheretti
Ph.D., Researcher. Coordinator of the research activities on developmental dyslexia
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Dott.ssa Chiara Andreola



+39 031 877924



Our studies focus on the definition of a multifactorial model of developmental dyslexia (DD). DD represents a complex hereditable disorder, characterized by impaired reading acquisition, in spite of adequate neurological and sensorial conditions, educational opportunities, and normal intelligence. About

3-7 % of Italian children are affected by this complex neurobiological disorder. Our ultimate goals include: 1) the investigation of the genetic and environmental effects upon the neuroanatomical structures and functionality and the cognitive functions underlying reading acquisition. Molecular genetic studies have identified some risk loci on chromosomes 1, 2, 3, 6, 15 and 18, and susceptibility genes (e.g., DYX1C1, KIAA0319, DCDC2, ROBO1 e GRIN2B) have been reported. Intermediate phenotypes can be helpful in investigating etiopathogenic pathways and constitute a solid, alternative basis to reading phenotypes. Moreover, considering unique genotype-genotype and genotype/environment interaction effects occurring during crucial phases of the individual development can help in unravelling the function of some specific genetic risk variants upon specific neuroanatomical pathways tapping the cognitive deficits in children with DD;

2) the identification and definition of early markers and new rehabilitation techniques. Although impaired auditory-phonological processing is widely assumed to characterize individuals with DD, emerging evidence suggests that impairments in the attentional and visual pathways represent core deficit of DD and are good predictors of future reading acquisition skills. These projects aim to define new DD prevention and rehabilitation techniques, by implementing new neurocognitive training.

Our techniques include molecular genetic analysis, neuroimaging and electrophysiological techniques, as well as behavioural evaluations.

Selected publications (march 2018)

  1. Mascheretti S, Andreola C, Scaini S, Sulpizio S. Beyond genes:  A systematic review of environmental risk factors in specific reading disorder. Research in Developmental Disabilities, in press.
  2. Franceschini S, Mascheretti S, Bertoni S, Trezzi V, Andreola C, Gori S, Facoetti A. Sluggish dorsally-driven inhibition of return during orthographic processing in adults with dyslexia. Brain and Language, in press, doi:10.1016/j.bandl.2018.01.009.
  3. Mascheretti S*, Gori S*, Trezzi V, Ruffino M, Facoetti A, Marino C. Visual motion and rapid auditory processing are solid endophenotypes of developmental dyslexia. Genes Brain and Behavior, 2018,17:70-81.
  4. Trezzi V, Forni D, Giorda R, Villa M, Molteni M, Marino C, Mascheretti S. The role of READ1 and KIAA0319 genetic variations in developmental dyslexia: Testing main and interactive effects. Journal of Human Genetics, 2017, 62:949-955.
  5. Mozzi A*, Riva V*, Forni D, Sironi M, Marino C, Molteni M, Riva S, Guerini FR, Clerici M, Cagliani R*, Mascheretti S*. A common genetic variant in FOXP2 is associated with language-based learning (dis)abilities: Evidence from two Italian independent samples. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, in press, DOI: 10.1002/ajmg.b.32546.
  6. Riva V, Cantiani C, Dionne G, Marini A, Mascheretti S, Molteni M, Marino C. Verbal working memory mediates the effects of duration of pregnancy on language. Neuropsychology, 2017, 31:475-485.
  7. Mascheretti S*, De Luca A*, Trezzi V, Peruzzo D, Nordio A, Marino C, Arrigoni F. Neurogenetics of developmental dyslexia: From genes to behavior through brain neuroimaging and cognitive and sensorial mechanisms. Translation Psychiatry, 2017, 7(1):e987.
  8. Mascheretti S, Trezzi V, Giorda R, Plourde V, Vitaro F, Brendgen M, Boivin M, Dionne G, Marino C. Complex effects of dyslexia risk factors account for ADHD-traits: Evidence from two independent samples. Journal of Child Psychology and Psychiatry, 2017, 58(1):75-82.
  9. Mozzi A, Forni D, Clerici M, Pozzoli U, Mascheretti S, Guerini FR, Riva S, Bresolin N, Cagliani R, Sironi M. The evolutionary history of genes involved in spoken and written language: beyond FOXP2. Scientific Reports, 2016, 25(6):22157.
  10. Zohsel K*, Bianchi V*, Mascheretti S, Hohm E, Schmidt M.H., Esser G., Brandeis D., Banaschewski T, Nobile M*, Laucht M.* Monoamine oxidase A polymorphism moderates stability of attention problems and susceptibility to life stress during adolescence. Genes Brain Behav, 2015, 14(8):565-572.
  11. Mascheretti S*, Gori S*, Giora E, Ronconi L, Ruffino M, Quadrelli E, Facoetti A, Marino C. Illusory Motion Perception Is Impaired in individuals with DCDC2 Intron 2 Deletion showing the Selective Role of Magnocellular-Dorsal Stream in Dyslexia. Journal of Vision, 2015, 15:481.
  12. Mascheretti S, Bureau A, Giorda R, Trezzi V, Marino C. An assessment of gene-by-gene interactions as a tool to unfold missing heritability in dyslexia. Hum Genet, 2015, 134(7):749-760.
  13. Cicchini G, Marino C, Mascheretti S, Perani D, Morrone MC. Strong motion deficits in dyslexia associated with DCDC2 gene alteration, J Neurosci, 2015, 35(21):8059-8064.
  14. Gori S*, Mascheretti S*, Giora E, Ronconi L, Ruffino M, Quadrelli E, Facoetti A, Marino C. The DCDC2/intron 2 deletion impairs selectively the magnocellular-dorsal stream in normal-readers, Cereb Cortex, 2015; 25(6):1685-1695.
  15. Mascheretti S, Marino C, Simone D, Quadrelli E, Riva V, Cellino MR, Maziade M, Brombin C, Battaglia M. Putative risk factors in Developmental Dyslexia: a case-control study of Italian children. J Learn Disabil, 2015, 48(2):120-129.
  16. Mascheretti S, Facoetti A, Giorda R, Beri S, Riva V, Trezzi V, Cellino MR, Marino C. GRIN2B mediates susceptibility to IQ and cognitive impairments in Developmental Dyslexia, Psychiatr Genet, 2015, 25(1):9-20.
  17. Riva V, Battaglia M, Cattaneo F, Lazazzera C, Mascheretti S, Giorda R, Nobile M, Maziade M, Marino C. GRIN2B targets the most severe cognitive and behavioral impairments among disadvantaged children. Eur Child Adolesc Psychiatry, 2015, 24(7):827-836.
  18. Marino C*, Scifo P*, Della Rosa PA*, Mascheretti S, Facoetti A, Lorusso ML, Giorda R, Consonni M, Falini A, Molteni M, Gruen JR, Perani D. The DCDC2/intron 2 deletion and white matter disorganization: Focus on developmental dyslexia. Cortex, 2014; 57:227-243.
  19. Eicher JD, Powers NR, Miller LL, Mueller KL, Mascheretti S, Marino C, Willcutt EG, DeFries JC, Olson RK, Smith SD, Pennington BF, Tomblin JB, Ring SM, Gruen JR. Characterization of the DYX2 locus on chromosome 6p22 with reading disability, language impairment, and IQ. Hum Genet, 2014,133(7):869-881.
  20. Mascheretti S, Riva V, Giorda R, Beri S, Lanzoni LFE, Cellino MR, Marino C. KIAA0319 and ROBO1: Evidence on association with reading and pleiotropic effects on language and mathematics abilities in Developmental Dyslexia, J Hum Genet, 2014,59(4):189-197.
  21. Mascheretti S, Bureau A, Battaglia M, Simone D, Quadrelli E, Croteau J, Cellino MR, Giorda R, Beri S, Maziade M, Marino C. An Assessment of Gene-by-Environment Interactions in Developmental Dyslexia-Related Phenotypes. Genes Brain Behav, 2013, 12(1):47-55.
  22. Marino C, Meng H, Mascheretti S, Rusconi M, Cope N, Giorda R, Molteni M, Gruen JR. DCDC2 genetic variants and susceptibility to Develomental Dyslexia. Psychiatr Genet, 2012, 22(1):25-30.
  23. Marino C, Mascheretti S, Riva V, Cattaneo F, Rigoletto C, Rusconi M, Gruen JR, Giorda R, Lazazzera C, Molteni M. Pleiotropic effects of DCDC2 and DYX1C1 genes on language and mathematics traits in nuclear families of Developmental Dyslexia. Behav Genet, 2011, 41(1):67- 76.


Internation partnerships

  • Dr. Cecilia Marino, Ph.D, M.D. – Department of Psychiatry, Centre for Addiction and Mental Health, Toronto (Canada)
  • Prof. Ginette Dionne, Ph.D. – Professor Department of Psychology, Université Laval, Québec (Canada)
  • Prof. Kenneth Pugh, Ph.D. - President and Director of Research, Senior Scientist Haskins Laboratories, Yale University, New Haven (U.S.A.)
  • Prof. Nicole Landi, Ph.D. – Senior Scientist Haskins Laboratories, Yale University, New Haven (U.S.A.)

National partnerships

  • Prof. Andrea Facoetti, Ph.D., Associate professor. Developmental and Cognitive Neuroscience Lab – De.Co.Ne. Lab, Department of General Psychology, University of Padua (Italy)
  • Prof. Simone Gori, Ph.D., Associate professor. Department of General Psychology, University of Bergamo (Italy)


© I.R.C.C.S. Medea - Associazione La Nostra Famiglia C.F.-P.IVA 00307430132