Autism blood test can identify genes in children

New autism blood test can identify genes AND environmental changes in children on the spectrum

• Autism spectrum disorder describes a wide range of characteristics brought on by environmental factors as well as at least 65 genes
• This year, a slew of blood tests have been developed for the disorder 
• But because the causes and markers are so diverse, no one test catches all cases
• Researchers at the University of California, Davis have developed a new blood test that detects signs of both environmental and genetic markers of autism

A new blood test for autism can diagnose children that previously were missed by even the best developed screens for the set of disorders. 

There are already a handful of tests for the disorder, which affects one in 45 American children, but there are also many unknowns to autism that make it hard for doctors to diagnose it absolute certainty. 

Behavior and an older diagnostic test can catch more than 90 percent of cases of autism, but aren’t widely used, and the new test detects about 17 percent of children who belong to a subset of the spectrum that might have been missed previously. 

Researchers at the University of California, Davis, developed their new screening method through the largest autism spectrum disorder study to-date.  

A new blood test for autism spectrum disorder can detect both genetic and environmental signs of the condition in the blood of a small subset of people on the spectrum 

The race is on to create a fail-proof test for autism spectrum disorder (ADS)   

Until recently, there has not been a biological test for children on the spectrum. 

Children have previously been diagnosed based on their altered behaviors, which may not become evident until children are two to four years old.

And families often have to wait to see a specialist for a more in-depth assessment, which should be started within three months of the referral but can take longer.

But in February, the a scientists unveiled a blood test that had blown even them away with its accuracy. 

And since, a slew of similar screening methods have come out.  

Now, the University of California, Davis, scientists have identified a group of blood metabolites that could help detect some children with ASD.

The new biomarker panel could accelerate autism diagnoses as about 17 percent of kids with autism we re identified with the metabolic blood test. This could speed up children having intensive behavioral therapy at an earlier age.

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Dr David Amaral, of the University of California Davis MIND Institute, said: ‘With this panel of alterations in amino acid metabolism, we can detect about 17 percent of kids with ASD.

‘This is the first of hopefully many panels that will identify other subsets of kids with autism.’

The findings were based on the largest metabolomic ASD study ever attempted – the Children’s Autism Metabolome Project (CAMP).

CAMP researchers believed the answer lies in the metabolome – the molecules that remain after larger molecules have been broken down (metabolized).

Metabolomics has the advantage of monitoring both genetic and environmental contributions to the development of autism.

So far, some 65 genes related to autism have been identified, and there may be more left to discover – which is not to mention the environmental factors at play. 

‘Autism is not a single entity, it’s a diverse spectrum,’ says Dr Peter Hotez, dean of the National School of Tropical Medicine at Baylor College of Medicine, and father to a daughter on that spectrum.  

‘It is difficult to imagine how there could be a single blood tes tfor it,’ he says. 

So the new test may fit into  a larger constellation of such screens for autism.  

Dr Amaral, a professor of psychiatry and behavioral sciences explained: ‘By the time you’re getting to metabolomics, you’re looking at how the body is working, not just the genes it has.’ 

‘It is unlikely that a single marker will detect all autism.’

But the new test might be able to catch cases of autism that others would miss.  

‘This paper demonstrates that alterations in metabolic profiles can detect sizable subsets of individuals with autism,’ said Dr Amaral. 

‘The hope is that we will be able to generate a panel of biomarkers that will detect a large proportion of people at risk.

‘Moreover, this approach highlights metabolic pathways that may be targets of intervention.’

The study collected blood samples from 1,100 children between 18 months and 4 years old, of which two-thirds were diagnosed with ASD.

Researchers compared blood metabolites – specifically, amino acids – in 516 kids with ASD and 164 children showing typical development.

They found that 17 percent of the ASD children had unique concentrations of specific amino acids (metabotypes) in their blood.

Though that may seem small, it is actually quite significant.

ASD encompasses a complex array of symptoms, and no one expected to find a single group of markers that would diagnose all subsets. 

Dr Amaral said it is hoped to create a number of metabolomic assays that cover all variations.

He said: ‘The long-term vision is, once we’ve been able to analyse all the data from CAMP, we would have a series of panels.

‘Each of these would be able to detect a subset of kids with autism.

‘Ultimately, metabolomics may be able to identify most children with autism.

‘In addition to enabling earlier diagnosis, this work also could help generate targeted interventions for specific ASD groups.’

Dr Amaral points to phenylketonuria (PKU) as a possible template.

PKU is a rare disease in which the amino acid phenylalanine builds up, causing brain damage however, relatively small dietary adjustments can make a big difference.

He concluded: ‘With just a simple dietary modification, a child can move from being profoundly disabled to one who lives a reasonably normal life

‘That’s the hope with autism as well.’

‘I’m optimistic this is not a one-off. There are going to be other panels that can detect other groups of kids with ASD.’

The study was published in the journal Biological Psychiatry.

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