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Advancements in Autism Research: An Overview of 2015 So Far

In looking back at the first four months of 2015, it becomes clear that advances in research have been significant and plentiful this year in better understanding both the causes of autism and developing potential treatments that can assist children with autism to become high-functioning, thriving individuals.


As we’ve discussed previously, the area that many researchers believe holds the most promise for unlocking the secrets of autism is genetics, with a lot of movement having occurred in this area of study over the past year. Simply put, autism advocates have provided a substantial amount of funding for the study of genetics as it relates to autism. While different studies have looked at different individual genes and genetic relationships, overall researchers have found that there are many genes that can lead to the disorder, not just one “smoking gun” that is the sole cause of autism.


Back in January, the journal Nature Medicine made history when it published the largest-ever autism genome study in which researchers sequence 340 genomes from 85 families in which two children were affected by autism. By zeroing in on 100 different genetic variations in the genomes sequenced, researchers found that 70% of siblings had little to zero overlap in the genetic variations that lead to autism.


It is the hope of researchers that through better understanding the genetic blueprint of autism, they can begin to develop more effective drug treatments. Through a close study of the biology of autism, researchers will only improve upon existing interventions while pioneering new medical treatments.


While research into autism has often been split between genetic and/or neurological research and research into the environmental causes behind autism, the field of epigenetics has opened up a new arena in which autism can be better understood as a delicate interplay between genetic and environmental health factors.


According to Alycia Halladay, chief science officer at the Autism Science Foundation,  “[Epigenetics] could be really exciting because there are some environmental factors we can do something about. We’re just starting to recognize in the past few years that epigenetics plays an important role in autism. Last year there was a study looking at brain tissue that shows there are areas of the genome of the brain that are methylated, which means they’re turned on or off depending on the environment that they’re in.”


Research into epigenetics has revealed that certain stressors and environmental factors can play a role in causing autism because they activate certain genes. For example, one recent study just published in the Journal of the American Medical Association discovered that women who develop diabetes while pregnant are 42% more likely to have a child with autism.


Finally, one other area of study that is receiving increased scrutiny is the role that gender plays in the development of certain interventions designed to curtail the severity of autism in children as young as 7 to 15 months as different interventions could have varied results depending on the gender of the child. This is because researchers have identified key differences in the way the disorder manifests in boys and girls, with girls tending to exhibit fewer repetitive behaviors, but also tend to have more severe symptoms and lower IQs.


Overall, approximately 1 in 42 boys and 1 in 189 girls are diagnosed with autism, which makes for a massive chasm between the two genders that researchers are starting to investigate far more closely. According to Halladay, it has really only been in the past year and a half that researchers have started to look at boys and girls differently, meaning that girls may require different, more gender-appropriate interventions when their symptoms are so clearly different.


As genetics, epigenetics, and gender continue to bear significant insights into the causes and treatment of autism, one thing that is certain is that our understanding of autism will only improve over the course of the next eight months as researchers continue to explore these particular areas of concern.