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Scientists identify ‘two distinct’ genetic bases for autism that could help future diagnoses
Autism is a complex condition, and traditional diagnostic tools �i.e., multiple tests and behavioral analysis �can be time-consuming and resource-hungry. But it has a strong genetic basis, and scientists have been working on isolating the gene-brain-behavior relationship. Its a challenge, they say, but they appear to be up to it.
Research into Autism Spectrum Disorder (ASD) has come a long way in recent years, with scientists identifying many new genes linked to autism. The more you know. Comparably, weve been attempting to identify and debunk common misconceptions about ADHD and recently learned three phrases people would do well to avoid when conversing with someone with ADHD, especially if the interaction gets heated.�
Scientists make headway in identifying Autism Spectrum Disorders genetic basis
Researchers from Johns Hopkins, the University of California, and the University of Virginia published a study earlier this summer in which they explain their discovery of a gene-brain-behavior link in autism.
They used generative machine learning to find it.
In the paper, they point out that, while autism is mostly diagnosed and treated behaviorally, it is highly heritable. In fact, recent heritability estimates are as high as 90%.
Meanwhile, less than half of patients with autism now undergo genetic screening.
Yet, they were able to identify two distinct endophenotypes �these are characteristics or traits associated with the underlying cause of a disease. Symptoms with a genetic connection. Biomarkers. Something that someone has that results in them having some kind of disorder or condition.
They suggest that, in the future, when people present with the first symptoms of Autism Spectrum Disorder, clinicians use the new methods used in this piece of research to detect potential biomarkers of autism early, and refer patients for genetic testing.
Doing so could facilitate more accurate and objective screening and personalize treatment in the future.
We didnt know autism had a genetic basis until the 1970s
The first comprehensive description of autism was in 1943, by Leo Kanner. Until then, clinicians would have incorrectly diagnosed autism as something else entirely.
In the distant past, people with autism may have conferred huge advantages to the communities that embraced them. The simple fact that people with autism think differently to neurotypical people enables them to think outside the box. Outside-the-box thinking is fundamental to a communitys ability to adapt and grow.
It didnt become clear that autism had a huge genetic basis until the seventies and early eighties, UCLA quotes autism researcher Dr Daniel Geschwind as saying. Even now, different states have different diagnostic approaches and varying levels of education around autism.
As a result, estimates of how many people are autistic vary across the US by huge degrees. There are also huge diagnostic and treatment disparities by socioeconomic status, Dr Geschwind says.
However, we understand now that a majority of autism cases are hereditary, UCLA writes. There are identifiable links to inherited genetic mutations that run in families. Because it takes root during fetal development, there is no evidence suggest[ing] you can develop autism later in life.
