by Researchers have undergone a “transformative step” to understand biology, which is based on autism after discovering four subtypes of the genetic state.
Scientists from Princeton University and the Simons Foundation analyzed data from 5,000 children in Spark, an autism cohort study, to groups of people who are based on their combination of characteristics.
Instead of looking for genetic connections to certain characteristics, the researchers looked at a number of over 230 characteristics in each individual, from social interactions to repeated behaviors to development milestones.
From this analysis, they were able to identify four subtypes of autism with different genetic variations.
“What we see is not only a biological history of autism, but also several different stories,” said Natalie Sauerwald, associated research scientist at the Flatiron Institute and co-lead author.
“This helps to explain why past genetic studies have often been neglected – it was like trying to solve a puzzle without realizing that we actually viewed several different puzzles that were mixed together. We could not see the full image, the genetic patterns until we first separated individuals in subtypes.”
The four subtypes were social and behavioral challenges, mixed ASD with development delay, moderate challenges and largely affected.
The first type refers to children who reach development milestones at a similar pace as children without autism, but they often have diseases such as ADHD, anxiety or depression.
The second type showed a delay in reaching development milestones, without signs of conditions that occur simultaneously.
The third type, moderate challenges, shows core -related behaviors, but less strongly than other groups and reaches milestones at a pace similar to children without autism and without simultaneous conditions.
The fourth type faces the most extreme and far -reaching challenges.
The first and third guy were most common with 37 percent and 34 percent of the participants in each group, while the second and fourth species were the least frequently, with 19 percent and 10 percent of the participants in each group.
The results underline how genetic differences “refer to different mechanisms behind superficially similar clinical presentations”.
For example, children in the largely affected and mixed ASD groups share some important features such as development delay and intellectual disability, but the former group showed the highest proportion de Novo Mutations that are not inherited by both parents, while the latter group wore rather less inherited genetic variants.
The results do not mean that there are only four subtypes of autism; They determine the discovery of a data -controlled frameworks that shows that there are at least four and that they are important for both clinical work and for research at genome level.
For families who navigate through autism, it can offer new clarity, tailor -made care, support and community if he knows which subtype of autism your child has.
