Differences in plasma metabolite increases the risk of autism

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Autism spectrum disorder ASD is a neurological and developmental disorder that starts in childhood and lasts throughout a lifetime. It affects how a person acts and interacts with others, communicates, and learns. It is called a “spectrum” disorder because people with ASD can have a range of symptoms.

Presently, there is no test for predict the probability of having a child that will be diagnosed with autism spectrum disorders ASD. Recent estimates indicate that if a mother has previously had a child with ASD, the risk of having a second child with ASD is approximately 18.7 percent, whereas the risk of ASD in the general population is approximately 1.7 percent.

In this study, metabolites of the folate-dependent transmethylation and transsulfuration biochemical pathways of pregnant mothers were measured to determine whether or not the risk of having a child with autism could be predicted by her metabolic profile.

Pregnant mothers who have had a child with autism before were separated into two groups based on the diagnosis of their child whether the child had autism or not. Then these mothers were compared to a group of control mothers who have not had a child with autism before.

The researchers concluded that while it is not possible to determine during a pregnancy if a child will be diagnosed with ASD by age 3, they did find that differences in the plasma metabolites are indicative of the relative risk (18.7 percent vs 1.7 percent) for having a child with ASD.

This new research follows an earlier study published in 2017, which developed an algorithm based on levels of metabolites found in a blood sample that can accurately predict whether a child is on the autism spectrum. A follow-up study this spring was also highly promising in assessing whether a child is on the autism spectrum.

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