Autism’s Hidden Diversity Unveiled by New Genetic Study

Autism spectrum disorder (ASD) is often misunderstood as a single condition, but experts say it’s actually a complex tapestry of diverse experiences. Professor Stephen Shore, an autistic educator, notes that “if you’ve met one person with autism, you’ve met one person with autism,” highlighting the incredible range of challenges faced by individuals on the spectrum.

Researcher Fred Volkmar agrees that current categorization methods, which group people based on social communication difficulties and restricted/repetitive behaviors, only capture part of the picture. He believes these coarse classifications “cover up the differences” and miss the nuance that underlies each individual’s experience.

To address this issue, researchers have spent years exploring genetics and behavioral characteristics to identify meaningful subtypes of autism. A recent study published in Nature Genetics has made a significant breakthrough by connecting specific clusters of traits with underlying genetic variations.

Using data from over 5,392 autistic children, the team identified four distinct subtypes of autism, each with unique challenges that are linked to specific types of genetic mutations. This new understanding has the potential to revolutionize care and support for autistic individuals and their families, providing valuable insights into what causes different presentations of autism.

Source: https://www.scientificamerican.com/article/four-new-autism-subtypes-link-genes-to-childrens-traits