The biomarker of autism can help in early diagnosis

Research published today in the journal Biological psychiatry describes a group of blood metabolites that can act as a new biomarker to accelerate the diagnosis of autism spectrum disorders.

Image credit: PhotoUG / Shutterstock

Autism Spectrum Disorder (ASD) affects about 1 in 160 children worldwide and the prevalence is increasing.

ASDs are a range of related but distinct disorders that affect a person's ability to interact socially and communicate.

The characteristics of autism vary from one person to another, which complicates the diagnosis.

Although there are some tests for ASD, a diagnosis can only be made after a complete assessment of impaired behavior, some of which are apparent only around the age of 2 to 4 years.

In addition, many patients have long been waiting for their child to be correctly assessed and diagnosed.

In cases where the symptoms are relatively mild, a person may not be diagnosed with an ASD before adolescence or adulthood.

ASD can have a negative impact on academic and social outcomes, which can limit employment opportunities.

It is therefore important for a child with ASD to receive the support they need as early as possible to maximize the chances of their reaching their full potential.

Researchers involved in the Children's Autism Metabolism Project (CAMP), the largest metabolic ASD study ever undertaken, have identified a group of blood metabolites that can 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 in an organism, cell or tissue.

The study of the precise composition of the metabolome allows scientists to discover genetic and environmental factors that may affect the functioning of the body.

The study analyzed the metabolomes of 1,100 children aged 18 months to 4 years to study factors associated with ASD development.

About two-thirds of the children assessed had a diagnosis of ASD.

Comparing the amino acid profiles of children with ASD and children with typical development revealed that 17% of children with ASD had unique concentrations of specific amino acids in their blood.

With this panel of amino acid metabolism alterations, we can detect approximately 17% of children with ASD … It's the first of many panels that will identify other subgroups of 39 autistic children. "

David G. Amaral, lead author

Although there is not a single marker capable of detecting all types of autism, the latest research has shown that it is possible to generate a panel of biomarkers that will detect great part of the people at risk.

It is hoped that the identification of these biomarkers with an accelerated diagnosis of ASD in affected children will benefit from an intensive behavioral therapy, the effectiveness of which has been proven, at an earlier age.

In the longer term, it is hoped that metabolomic tests will be developed to allow detection of all variations in ASD.

Amaral explained: "Once we have been able to analyze all the CAMP data, we would have a series of panels … Each of them would be able to detect a subset of children with autism. identify most autistic children. "