Research published today in the journal Biological Psychiatry describes a group of blood metabolites that could act as a new biomarker to accelerate the diagnosis of autism spectrum disorder.
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Autism spectrum disorder (ASD) affects around 1 in 160 children globally, and the prevalence is on the rise.
ASD is a spectrum of related but distinct disorders that affect an individual's capacity for social interaction and communication.
The characteristics of autism vary from one person to another making diagnosis challenging.
Although there are some screening tests for ASD available, a diagnosis can only be made after a full evaluation of the altered behaviors, some of which are not apparent until the age of 2‑4 years.
In addition, many patients have long waits to have their child properly assessed and diagnosed.
In cases where the symptoms are relatively mild, an individual may not be diagnosed with ASD until adolescence or adulthood.
ASD can have a negative impact on educational and social attainments, which can limit employment opportunities.
It is therefore important for a child with ASD to receive the support they need as soon as possible to maximize the chance of them reaching their full potential.
Investigators involved in the Children's Autism Metabolome Project (CAMP), the largest metabolomic ASD study ever attempted, have identified a group of blood metabolites that could help detect ASD in children. It is hoped that the discovery will provide the basis for developing a rapid test for ASD.
The metabolome is the total number of small molecules and metabolites present within an organism, cell, or tissue.
Studying the precise composition of the metabolome enables scientists to discover genetic and environmental factors that can affect the way an organism works.
The study analyzed the metabolomes of 1,100 children aged between 18 months and 4 years to investigate factors associated with the development of ASD.
Around two-thirds of the children assessed had a diagnosis of ASD.
Comparison of the amino acid profiles of children with ASD and children showing typical development revealed that 17% of the children with ASD had unique concentrations of specific amino acids in their blood.
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."
David G. Amaral, Senior Author
Although there is not a single marker that will detect all types of autism, the latest research has shown that it may be possible to generate a panel of biomarkers that will detect a large proportion of people at risk.
It is hoped that the identification of these biomarkers with help to accelerate ASD diagnosis so affected children can receive intensive behavioral therapy, which has proven efficacy, at an earlier age.
In the longer term, it is hoped that metabolomic assays will be developed to enable detection of all variations of ASD.
Amaral explained "...once we've been able to analyze 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."