Patterns of biomarkers for three phenotype profiles of persisting specific learning disabilities during middle childhood and early adolescence: A preliminary study

Abstract

Students without specific learning disabilities [SLDs] [n=18] and with one of three persisting SLDs in written language despite early and current specialized instruction-Dysgraphia [n=21], Dyslexia [n=40], or oral and written language learning disability OWL LD [n=14]- in grades 4 to 9 [N=56 boys, 38 girls] completed behavioral phenotyping assessment and gave a small blood or saliva sample. Molecular analyses informed by current cross-site research on gene candidates for learning disabilities identified associations between molecular genetic markers and the two defining behavioral phenotypes for each SLDs-WL; dysgraphia [impaired writing alphabet from memory for rs3743204 and sentence copying in best handwriting for rs79382 both in DYX1C1], dyslexia [impaired silent word reading/decoding rate for rs4535189 in DCDC2 and impaired spelling/encoding for rs374205 in DYX1C1], and OWL LD [impaired aural syntax comprehension for rs807701 and oral syntax construction for rs807701 both in DYX1C1]. Implications of these identified associations between molecular markers for alleles for different sites within two gene candidates [and mostly one] and hallmark phenotypes are discussed for translation science [application to practice] and neuroimaging that has identified contrasting brain bases for each of the three SLDs.

Keywords: OWL LD; cascading levels of language; dysgraphia; dyslexia; genetic biomarkers; hallmark phenotypes; translation science.