Individuals with language impairment suffer from a wide-range of lifelong, detrimental socioeconomic consequences frequently resulting from academic under-achievement and reduced self-perception of cognitive abilities. Several behavioral disorders contain language impairment as a diagnostic basis, including dyslexia, Speech Sound Disorder (SSD), Specific Language Impairment (SLI), and Autism Spectrum Disorders (ASD). Observed co-occurrence and overlap of clinical presentation among these disorders suggest dyslexia, SSD, SLI, and ASD share determinants. Past studies have implicated the same genes and genomic areas in these various disorders. However, to what extent dyslexia, SSD, SLI, and ASD share genetic determinants remains to be evaluated. Thus, the overall goal of these investigations is to determine the shared and unique genetic determinants of dyslexia, SSD, SLI, and SSD. The hypothesis is known dyslexia genes will contribute to the observed language impairment in SSD, SLI, and ASD. Identification of these core language genes could lead to the development and implementation of interventions targeting a variety of language disorders and their core deficits. To test this hypothesis, six different cohorts will examine the contribution of dyslexia genes to language impairments in SSD, SLI, and ASD. This study plan will identify shared and unique genetic determinants of dyslexia, SSD, SLI, and ASD independently through the use of multiple epidemiological and genetic designs. Specifically, the study aims to: 1) Evaluate the contribution of dyslexia genes to SSD and SLI 2) Determine the contribution of dyslexia genes to language deficits in ASD 3) Compare and evaluate effects of genes implicated in dyslexia among cohorts Determining the specific and global effects of these genes on language will demonstrate which genes cause certain language impairments and which control core language skills. Completion of these aims will be utilized in future investigations to develop clinical tools to diagnose global and specific language deficits. Additionally, future analyses will aid in creating genetically informed interventions that target both core language deficits that disorders share and impairments specific to the affected children.

Public Health Relevance

Children with language impairment suffer from a wide-range of lifelong social and economic consequences resulting from academic under-achievement and reduced self-perception of cognitive skills. These investigations aim to identify genes common to multiple disorders in order to permit earlier diagnoses and the use of biologically informed interventions early in life when it is most effective. Future analyses will aid in creating genetically informed interventions that target both core language deficits that disorders share and impairments specific to the affected children.

Agency
National Institute of Health (NIH)
Institute
National Institute on Deafness and Other Communication Disorders (NIDCD)
Type
Predoctoral Individual National Research Service Award (F31)
Project #
5F31DC012270-03
Application #
8518061
Study Section
Special Emphasis Panel (ZRG1-F08-E (20))
Program Officer
Sklare, Dan
Project Start
2011-09-01
Project End
2014-08-31
Budget Start
2013-09-01
Budget End
2014-08-31
Support Year
3
Fiscal Year
2013
Total Cost
$42,232
Indirect Cost
Name
Yale University
Department
Genetics
Type
Schools of Medicine
DUNS #
043207562
City
New Haven
State
CT
Country
United States
Zip Code
06520
Eicher, John D; Powers, Natalie R; Miller, Laura L et al. (2014) Characterization of the DYX2 locus on chromosome 6p22 with reading disability, language impairment, and IQ. Hum Genet 133:869-81
Powers, Natalie R; Eicher, John D; Butter, Falk et al. (2013) Alleles of a polymorphic ETV6 binding site in DCDC2 confer risk of reading and language impairment. Am J Hum Genet 93:19-28
Ash, Garrett I; Eicher, John D; Pescatello, Linda S (2013) The promises and challenges of the use of genomics in the prescription of exercise for hypertension: the 2013 update. Curr Hypertens Rev 9:130-47
Eicher, J D; Powers, N R; Miller, L L et al. (2013) Genome-wide association study of shared components of reading disability and language impairment. Genes Brain Behav 12:792-801
Eicher, John D; Powers, Natalie R; Cho, Kelly et al. (2013) Associations of prenatal nicotine exposure and the dopamine related genes ANKK1 and DRD2 to verbal language. PLoS One 8:e63762
Eicher, John D; Gruen, Jeffrey R (2013) Imaging-genetics in dyslexia: connecting risk genetic variants to brain neuroimaging and ultimately to reading impairments. Mol Genet Metab 110:201-12