Autism Genetics

With autism there are so many questions. Researchers, educators, family members, and individuals with autism ask questions about the disorder. What causes the disorder? What are the outcomes? What does an autism diagnosis mean in terms of quality of life? Along with these practical questions, most individuals and families will also ask, “Why?” Why does one person have autism and not another? We are fortunate to be living in the 21st century where many elite researchers have developed answers to these questions and even answers, “Why?” In fact, many researchers are beginning to identify that there is a genetic component to autism. The following chapter will discuss a brief overview of critical historical research studies illuminating the relationship between autism and genetics.

Genetic Advances in Autism

In the last 40 years, there has been a huge increase in autism genetics research and a rapidly growing number of discoveries. We now know autism is one of the most highly heritable disorders with negligible shared environmental contributions. Recent discoveries also show that rare variants of large effect size as well as small effect common gene variants all contribute to autism risk. These discoveries challenge traditional diagnostic boundaries and highlight huge heterogeneity in autism. In this review, we consider some of the key findings that are shaping current understanding of autism and what these discoveries mean for clinicians.