Siblings on the autism spectrum have varied genetic mutations

siblingsToronto, Canada — A group of researchers headed by Dr. Stephen Scherer, a geneticist from The Hospital of Sick Children in Toronto, has found that even siblings on the autism spectrum have varied genetic mutations.

Dr. Scherer and his team studied genetic mutations in the entire DNA of 85 families who have siblings on the spectrum. The study focused on the genetic changes that occurred not only on the siblings who have autism, but also on their parents. Using whole gene-sequencing to identify the mutations over the entire genetic code, researchers found an average of about 73 genetic mutations in every set of DNA. The study also found that only 42.4 percent of the families showed mutations that could be directly associated to genes that scientists have already previously linked to autism.

According to the study, out of the 42.4 percent of the families, only one-third of the siblings with ASD displayed identical genetic mutation. According to Scherer:

“This emphasizes that these kids have different forms of autism (each their own snowflake) and need to be treated in their own special way.

“Now that we know some of the genes involved in the core features of autism, we have targets to develop new drugs and that is ongoing mainly in biotech companies and pharmaceutical companies.”

While medical treatments that could potentially cure autism are still far off, Scherer restated that early behavioral intervention is still the best treatment, for the moment.

“The best treatment for the core features in the autisms is actually intensive behavioral intervention. For this, for the best outcomes, you need to start early.”

Source: Will Boggs on the Reuters website: ‘Autisms’ a more appropriate term than ‘autism,’ geneticists say