Genome‐wide association studies of severe communication processes and affectation of multiple prevalent pediatric communication disorders

Abstract

Impairments in communication skills are commonly seen in schoolchildren, including in the prevalent disorders dyslexia or RD, language impairment (LI), and autism spectrum disorders (ASD). Children with these disorders are difficult to identify, frequently have academic underachievement, and have limited socioeconomic opportunities. Therefore, we performed a genome wide association study in the Avon Longitudinal Study of Parents and Children using two distinct strategies: (1) examining severe deficits in core communication processes and (2) dissecting the gene risk factors of having multiple impairments. For severe communication deficits, the strongest associations were seen within RD risk locus DYX2, within LI risk locus SLI2, and a novel locus on 4p15.1. We first examined disorders individually and then cases with multiple disorders. The strongest associations with LI were with the genes ZNF385D, IL26, and NDST4. Next, we examined cases with multiple disorders. With cases affected with both ASD and RD, the strongest associations were with HTRA1 and a locus on 1q31.3. For cases with both RD and LI, we saw the strongest associations with ZNF385D and COL4A2. For ASD and LI cases, the strongest associations were with SGMS2, CLDN10, and BTLA. Our results confirm the DYX2 and SLI2 loci in communication disorders and implicate genes previously associated with other neurobehavioral disorders.