BackgroundGenetic testing of children with autism spectrum disorder (ASD) is now standard in the clinical setting, with American College of Medical Genetics and Genomics (ACMGG) guidelines recommending microarray for all children, fragile X testing for boys and additional gene sequencing, including PTEN and MECP2, in appropriate patients. Increasingly, testing utilizing high throughput sequencing, including gene panels and whole exome sequencing, are offered as well.MethodsWe performed genetic testing including microarray, fragile X testing and targeted gene panel, consistently sequencing 161 genes associated with ASD risk, in a clinical population of 100 well characterized children with ASD. Frequency of rare variants identified in individual genes was compared with that reported in the Exome Aggregation Consortium (ExAC) database.ResultsWe did not diagnose any conditions with complete penetrance for ASD; however, copy number variants believed to contribute to ASD risk were identified in 12%. Eleven children were found to have likely pathogenic variants on gene panel, yet, after careful analysis, none was considered likely causative of disease. KIRREL3 variants were identified in 6.7% of children compared to 2% in ExAC, suggesting a potential role for KIRREL3 variants in ASD risk. Children with KIRREL3 variants more often had minor facial dysmorphism and intellectual disability. We also observed an increase in rare variants in TSC2. However, analysis of variant data from the Simons Simplex Collection indicated that rare variants in TSC2 occur more commonly in specific racial/ethnic groups, which are more prevalent in our population than in the ExAC database.ConclusionThe yield of genetic testing including microarray, fragile X (boys) and targeted gene panel was 12%. Gene panel did not increase diagnostic yield; however, we found an increase in rare variants in KIRREL3. Our findings reinforce the need for racial/ethnic diversity in large‐scale genomic databases used to identify variants that contribute to disease risk.

Oliver Sacks (1989) defined language as "the symbolic currency [for the] exchange [of] meaning" (p. 39), a definition that clearly underscores its dynamic, functional, and purpose-driven nature while elevating it to its raison d'etre: communication. This definition provides a useful framework within which to discuss language development in children and adolescents with autism spectrum disorder (ASD), given that of the three aspects of languagesyntactic (form), semantic (meaning), and pragmatic (function)-it is impairment in the latter social element that is the dominant feature of disordered language in this population. The pragmatic function is also the feature that drives the myriad uses that render language purposeful. For example, we can use language to obtain attention; to request and to comment; to ask and answer questions; to express opinions, thoughts, and feelings; to negotiate, explain, or elaborate; and to express frustration or joy, empathy or disdain. Language can ground us in the here and now or catapult us into the future.