Scientists reveal the latest research on the genetic factors that influence autism development

For decades, autism’s origins remained a mystery, shrouded in incorrect theories and limited scientific understanding. Initially blamed on “refrigerator mothers,” it wasn’t until 1977 that research began to reveal autism’s genetic roots. This shift marked the start of a deeper investigation into the genetic variations that could explain neurodiversity. Today, researchers like Daniel Geschwind and Thomas Bourgeron are leading the charge to uncover the intricate genetic components influencing autism.

Autism research has evolved from identifying early twin studies to more complex gene mutation discoveries. It’s now understood that autism can arise from both rare single-gene mutations and the combined effects of thousands of common gene variants. While some mutations have severe consequences, impacting intellectual development or motor skills, most cases arise from a much more subtle combination of genetic factors.

Mutations in genes like Shank3 have provided significant insights into neurodevelopment. Some of these mutations occur through random genetic changes in embryos, while others are inherited from seemingly neurotypical parents, complicating the understanding of autism’s transmission.

Despite this progress, autism research has faced criticism, especially from within the neurodivergent community. Many view autism as an identity rather than a disorder to be cured, fearing that genetic discoveries might lead to eugenic practices. The prospect of prenatal genetic tests that might “screen” for autism has raised concerns about the potential for discrimination or the eradication of neurodiversity.

Still, there is optimism that genetic research can lead to personalised treatments, especially for those with more severe forms of autism. Clinical trials, like those focusing on the Shank3 gene, hold promise for enhancing the lives of children affected by autism. However, experts like Sue Fletcher-Watson urge caution, emphasising that autism should not be seen as a condition to be “fixed,” but a part of the spectrum of human experience.