Newsweek
The facility that is the subject of this article is The Seaver Autism Center for Research and Treatment at the Icahn School of Medicine at Mount Sinai in New York City.
Quote:
Siper was explaining the methodology of an ambitious effort currently under way at the center in collaboration with the Autism Science Foundation. Sarah was diagnosed with autism several years ago, but her sister wasn’t. The Rosses are one of 3,000 families enrolled in the Autism Sisters Project, a long-term study of families with at least one child who has autism and at least one female sibling who does not.
As genetics research has advanced, scientists have discovered some 50 genes linked to autism risk; there are likely many more. As this research has exploded, geneticists in the field have observed a curious pattern, leading to a compelling theory that begs for closer investigation. Studies appear to show that being female provides some protection from developing autism.
When comparing the genome of a girl with autism to the genome of a boy with autism, females tend to have twice as many genetic mutations as boys. What this means is girls have a higher genetic threshold before developing the disorder. Girls need more mutations “to actually pass that boundary to autism traits,” says Joseph Buxbaum, director of the Seaver Center. “Autism is highly genetic, and a big part of the genetic risk is inherited.”
Buxbaum, who is helping lead the Autism Sister Project, says it will be one of the first that not only pinpoints risks for autism but also identifies protective factors. This approach to research, says Siper, “represents an important shift in our thinking about how to develop the most promising treatments.” Siper, Buxbaum and their colleagues worldwide want to know what leads to an autism diagnosis in kids like Sarah. They also want to figure out what exactly confers resilience in (and protects) girls like Jennifer.
Those findings, says Buxbaum, will be useful in research for treatments. “We can actually think about drug development,” he says. “If we have a pathway in the brain that is actually protecting against autism, we can stimulate that pathway through medicine. Then, we think, we can actually reduce the risk and ameliorate the manifestations of autism.” The research could also help develop sex-specific interventions for autism.
This is what happens when non autistic researchers do not get out of their bubble and talk to autistic people, in this case, autistic females. There has been a lot of positive coverage in the media lately about how autism presents differently in females and that is why they are diagnosed less often. That is great but it is going to be useless if prestigious researchers will not even consider the theory and the idea that maybe girls with twice as many genetic mutations are autistic but not being diagnosed, and design "protective" treatments and try to "reduce the risk" of being autistic based on the Intense Male Briain Theory of Autism. It means that 10 years from now we will still be hearing stories similar to those in B19's doctor nightmare stories thread.
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Professionally Identified and joined WP August 26, 2013
DSM 5: Autism Spectrum Disorder, DSM IV: Aspergers Moderate Severity
It is Autism Acceptance Month
“My autism is not a superpower. It also isn’t some kind of god-forsaken, endless fountain of suffering inflicted on my family. It’s just part of who I am as a person”. - Sara Luterman
11 Jun 2017, 1:22 am
