Autism is one of the most common developmental disabilities, yet widely misunderstood, both by medical professionals and the community at large. This is part of the reason many individuals with the condition do not receive a correct diagnosis until later in life, and too often fail to get appropriate support.

Such extreme variables make researching the condition difficult, as well. For example, from an insurance perspective, autism support is often limited to early behavioral interventions for children, occupational, speech, and physical therapy. In some cases, carriers allow coverage for talk therapy-style care for adults.

Unfortunately, in terms of research into these targeted interventions, methodological issues have left scientists with few answers and a lot of conflicting information.

Quality, Bias, and Other Concerns

In a meta-analysis of various early intervention studies, researchers uncovered numerous cases of bias, poor methodology, and other obstacles. These included studies that based their results on parental reports, those that exhibited a high risk of bias because the intervention provider was gauging treatment effectiveness, and still more.

Early intervention certainly seems to yield some benefit, but there are many different kinds of support available, practitioner skill varies, and other factors pose challenges to study, not to mention expensive, unreliable tools for families.

Emphasizing Basic Research

Instead of focusing on more variable and often subjective matters like early intervention therapies, researchers are instead turning their attention to basic research, an approach that looks at foundational biological mechanisms to understand bodily processes. This is critical, given that research supported by the Brain Research Foundation established a new baseline case prevalence of 2.64% of the population.

That’s more than the incidence of epilepsy, inflammatory bowel disease, and ovarian cancer, among many other conditions. Nearly everyone knows someone who’s autistic.

As part of the focus on basic research, scientists have been examining the impact certain genes associated with autism spectrum disorders may have on brain development. One, known as Cullin 3, is regarded as a high-risk gene that can lead to a number of neurological deficits, including poor coordination, as well as certain social and cognitive impairments associated with autism.

This seems to be linked to changes in brain cell migration during development. In turn, that compels certain cells, which should be part of higher-level functions, to remain stuck in other regions of the brain.

Gender Bias, Gender Differences

For many years, autistic women have been pointing to diagnostic bias as a key reason why many girls and women have been overlooked. The diagnostic standards, patients and other advocates have argued, are modeled on a particular subset of boys, which likely led to serious gaps in understanding and support.

Although there is strong evidence for this, it may not be the only issue in play, though. Other research suggests that autism actually develops differently in boys and girls – in a more strictly biological sense.

One of the most marked distinctions the new research has turned up is that, during social interactions, the differences in brain activity between autistic and non-autistic girls is not the same as the differences seen in autistic and non-autistic boys. Girls also showed a greater number of gene variants that may affect the development of the brain known as the striatum, also not seen in boys.

In some senses, these are almost distinct conditions, which makes this one of the interesting challenges with regard to study of multi-genic conditions.

We are still years away from a clear understanding of the biological mechanisms that underlie autism, but the better the condition’s processes are understood, the more targeted interventions and supports can be. Like so much other scientific research, this could be the start of a long journey with much more to discover.