That’s the best summary I can come up with of this post by Pamela Feliciano at STAT on her and her team’s findings on the genetic bases of autism. Yes, it’s 60-90% genetic but it’s complicated. Here’s a snippet:
Over the past six years, I have worked with a team to build SPARK, a study supported by the Simons Foundation that has assembled the largest sequencing data set in autism to date: 35,000 people with the condition, along with thousands of their parents and siblings. Beyond identifying an increasing number of genes involved in autism, the study is also learning more about the kinds of genetic variants that cause autism in its many forms. The picture that is emerging is one of a heterogenous condition that is different in every person because the genetic factors involved differ in every person.
In a new study published in Nature Genetics on Thursday, the SPARK team examined more than 42,000 people with autism (individuals from SPARK plus previously published genetic data) and, in a first for autism genetics, identified four genes associated with autism that are mostly due to inherited variants. We looked for variants in genes that showed non-random patterns of inheritance from parents to children with autism and identified four genes in which inheritance of loss-of-function variants — those that lead to a non-working copy of the gene — were seen more than 50% of the time, but only among children with autism.
Read the whole thing.
We’ve come a long way since the 1950s on this subject. Then autism was unfairly blamed on “refrigerator mothers” (Bettelheim’s theory of autims), the idea that insufficient “maternal warmth” produced autism in children. Perhaps some day research like this will lead to better treatments for autism. I’m afraid that day remains far in the future.
Genetic with lots of heterogeneity. Agree that it will be long time until we find treatments that we would call gene therapy.
Steve