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article imageEssential Science: Has a blood test for autism been developed?

By Tim Sandle     Sep 30, 2019 in Science
Autism is difficult to detect at the early stages and this tends to be based on assessing behavioral signs. To address this, scientists are working on a new blood test based on biological markers.
The new research comes from University of California San Diego School of Medicine. In an initial study, the researchers looked at gene expression within the blood, based on samples drawn from 302 boys, who were aged one to four. The population included those with without autism.
By analyzing the data collected drawn from the blood samples and using a neurons models, the scientists found a gene network that functions to regulate white blood cells. It appears that this gene network becomes disrupted in cases of autism spectrum disorders.
One in 68 children has autism  a 30 percent rise over the last estimate released in 2012  US health ...
One in 68 children has autism, a 30 percent rise over the last estimate released in 2012, US health authorities said
Sergei Supinsky, AFP/File
The gene network consists of important signaling pathways for fetal brain development, based on this the scientists think this is the main cause of autism , affecting prenatal brain development.
Further analysis indicates that the worse the regulation of this network is then the more severe autism spectrum disorder symptoms become as the child becomes older.
Autism is a developmental disorder characterized by issues with social interaction. Issues are also manifest with communication and exhibited through repetitive behavior. Indications that a child is on the autism spectrum tend to come from parental observations. Here signs are noticed during the first two or three years of their child's life.
Autism Awareness ribbon.
Autism Awareness ribbon.
Beverly & Pack
Autism spectrum disorder is the term for a set of similar conditions, such as Asperger syndrome, which affect, in different ways, a person's social interaction, communication, interests and behavior.
Key findings
Discussing the findings further, lead researcher Juergen Hahn outlines the blood test for autism in the following video:
A second researcher in the study Eric Courchesne looks at the data further, stating: “Increasingly, evidence indicates that autism spectrum disorder is a progressive disorder that, at prenatal and early postnatal stages, involves a cascade of molecular and cellular changes, such as those resulting from dysregulation of signaling pathways and network.”
The key finding is that abnormal signals from known autism spectrum disorder risk genes may be channeled through this important gene network, and that, in turn, sends signals that alter fetal and postnatal brain formation and wiring patterns. Such findings match earlier studies which infer diagnostic and prognostic abilities of blood gene expression for autism spectrum disorder.
A new test in the future?
The scientists the researchers are hopeful that the research will lead to the development of a new blood-based test designed to assess for autism early. This would enable medics to able to expedite autism spectrum disorder treatment for children, with a view to restrict the severity as well as improving the prognosis.
Laboratory technician undertaking testing  taken at Tim Sandle s laboratory.
Laboratory technician undertaking testing, taken at Tim Sandle's laboratory.
However, to reach this stage, more detailed research will be required to assess the findings and to determine how effectively they can be replicated. It also follows that as no females were part of the study, additional trials will need to be performed.
Research paper
The research has been published in the journal Nature Neuroscience, with the paper titled “A perturbed gene network containing PI3K–AKT, RAS–ERK and WNT–β-catenin pathways in leukocytes is linked to ASD genetics and symptom severity.”
Essential Science
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This article is part of Digital Journal's regular Essential Science columns. Each week Tim Sandle explores a topical and important scientific issue. Last week we considered how a new study demonstrates how carbon-neutral re-use of carbon dioxide is emerging as an alternative to burying the greenhouse gas underground. This could lead to cleaner fuels for aircraft as well as greener plastics.
The week before we looked at U.S. Food and Drug Administration (FDA) phase 1 trial shows that a new hydrogel designed to repair the heart is safe to inject in humans. This represents the first application of this type of medical technology.
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