Scientific research has focused on the genetic components of autism. At first glance, this makes sense. There is a clear link between family history and autism. However, genetic studies have not been able to find a gene that relates to more than 1% of the autism population. To better understand autism, scientists recognize that they need to understand different more physiological causes of the neurodevelopmental disorder.
In 2016, researchers focused on those with the “broader autism phenotype” i.e. those who have “hints” of autism. They mainly looked at family members and noted that siblings of those with autism had elevated autism symptoms, compared to those with no family history. Scientists are studying siblings to help identify the strengths that they may have that allow them to be typical despite a genetic predisposition.
Early intervention was further proven to have significant and more useful improvements in the long term behavior and neurological issues for those living with autism. These came from longitudinal studies, i.e. studies that follow families over an extended period of time. In 2010, an intervention focusing on social communication was taught to parents. In the short term, it did not seem to make a difference in the lives of the families. However, after five years the children had reduced autism symptoms. This study proves to us that parents of those living with I/DD may not notice the work that they are doing as meaningful, but slowly and surely it makes a significant difference. Please note that while interventions by parents are extremely helpful in some cases, they are only meant to supplement the care of trained providers.
Pharmacological treatments have been advancing, focusing on behavioral outcomes over core autism symptoms. Oxytocin shows mixed results in some individuals, but not all. Oxytocin is a hormone that is related to social bonding. Genetic mutations that affect how oxytocin affects the brain/body have been linked to autism. Different mutations affect how one responds to oxytocin differently, and as such, some mutations respond positively to oxytocin while others do not. Studies have shown that genetic testing can show which individuals can benefit from the oxytocin. As the well-known saying goes, "When you have met one person with autism you have only met one person with autism." Each child responds to medications differently, and this study shows a possible way that providers can cater the care to a child’s specific needs.
Scientists are trying to understand the nature of autism itself, not just what interventions can be used. For example, many previously assumed that those living with autism do not make eye contact because they were actively avoiding the eyes(presumably because they were anxious), but the current research suggests that they are just not simulated by eye contact. A typical person’s brain reacts when we make eye contact with someone else, but those living with autism do not have the same mental stimulation. These small breakthroughs help us understand what is going on in the brains of those we care about has profound impacts. It helps us learn more about how the disorder affects the brain and how we can work with this knowledge to get better treatments created.
As you may know, there is a “sex bias” in autism as four times as many males are living with autism compared to females. Some scientists believe that there can be something about male biology that may trigger and increase autism symptoms (see: Autism extreme male brain theory by Simon Baron-Cohen). However, some studies suggest that the significant difference may be contributed in part by a bias from clinicians. They have found that a lot of women are living with autism but are undiagnosed. Some believe that the female brain is much more capable of higher social communication skills and so they can cover up the underlying autism symptoms. There also studies that suggest that the assessments used to diagnose autism are biased towards males. Even some practitioners may have a bias towards a girl who comes into the office, automatically assuming that the girl does not have autism due to the perceived lower chance of girls having autism. There clearly exists a need for updates assessments that will be able to diagnose better girls who are living with autism. Without a proper diagnosis, many girls may not be receiving the appropriate care to help them reach their potential.
Scientists will continue to research, debate, and figure out more innovative and significant solutions and therapies for those of us who are affected by intellectual and developmental disabilities. Some of the results may seem that they contradict each other, but everyone is trying to do their part to find new developments. It is important to note that while scientists are doing their best, we must be pragmatic and do what we can with what we have. The results of good mentorship and companionship are clear. Mentees are more confident, independent, and motivated to help themselves. I am happy to continue to provide support and guidance to those who can benefit from it. It gives me a great pleasure and purpose for living when I help those who are often forgotten and neglected by society to reach their true potential. I strongly encourage others to do the same and for parents to seek these services for their child.
I have been serving the autism community in various capacities for many years. All my experiences have added to my ability to understand better the needs and how important it is for everyone to do their part to support this often overlooked population. I completed my senior honors thesis by performing groundbreaking autism research, served as an ABA therapist, founded a student organization centered around autism service, advocacy, awareness, volunteered as an intern at a special needs school during my summers in high school, and have mentored teens and peers living with autism since I was a freshman in high school. Working with individuals living with intellectual and developmental disabilities is a passion of mine. I hope to one day serve the autism community as a behavioral pediatrician, but until then I would like to do whatever I can to stay involved and have a profound impact!