[ad_1]
New research suggests that metabolic signatures in the blood of some children with autism spectrum disorder (ASD) may lead to earlier diagnosis and perhaps targeted dietary therapy.
The researchers found that deregulation of amino acid metabolism can be used to detect approximately 17% of children with ASD.
Dr. David Amaral
There is currently no reliable diagnostic biomarker for ASD. Based on previous evidence that deregulation of branched-chain amino acids might contribute to ASDs, the researchers tested whether uptake of amino acids is an ubiquitous phenomenon in people with ASD.
"Our article indicates that this seems to be the case," said lead author David G. Amaral, PhD, director of research at the University of California, Davis, at the MIND Institute in Sacramento. Medscape Medical News.
The study was published online September 6 Biological psychiatry.
Available at the end of the year?
The researchers compared the plasma metabolites of 516 children with ASD to those of 164 developing-age children, usually developing, enrolled in the Autabol Metabolome project, a large-scale effort to define biomarkers of autism at home. From metabolomic analyzes of blood samples of young children. .
From these results, researchers were able to stratify children with ASD into subpopulations based on shared metabolic signatures. The imbalances of glutamine, glycine and ornithine, as well as the low levels of branched-chain amino acids (leucine, isoleucine and valine), allowed the identification of three deregulation metabodies. amino acids associated with ASD.
The combination of these three AADMs was present in 16.7% of children with ASD and was detectable with a specificity of 96.3% and a positive predictive value of 93.5%.
"Efforts are being made to make a first test by the end of the year," said Amaral. Medscape Medical News.
He stated that it is unlikely that a single biomarker will detect all cases of autism. "We are currently studying other metabolites that distinguish other subgroups of autistic children.The goal would be to have a collection of diagnostic panels that would identify a very large sample. important children at risk for autism, "said Amaral.
"A reliable set of biomarkers to detect an increased risk of autism would improve accurate identification and reduce the impact on people with the disease.The metabolomic approach in this article reflects a a rational approach not only for the detection but also for the development of targeted treatments ". Frazier, PhD, scientific leader of Autism Speaks, who did not participate in the study, said in a press release.
The authors note that supplementation with BCAA or high protein diet was used in mouse models and in individuals with branched-chain ketoacid dehydrogenase kinase deficiency to reduce ASD symptoms and improve cognitive function.
"Defining a group of children who are positive for AADM can help stratify the autistic population as a precursor to a targeted intervention through dietary supplementation or a specialized diet," they write.
Key questions remain
Commenting on the search for Medscape Medical News, Victoria Chen, MD, Behavioral Development Pediatrician, Cohen Children's Medical Center, New Hyde Park, New York, noted that the discovery of AADM as a biological marker of ASDs is "a new discovery and could improve the Identification of children with ASD. "
However, it is important to note that this biomarker only identified 16.7% of children with ASD in the sample, "so it is far from replacing any screening assessment in children with ASD. identify at least 70% to 80% of children screened, "Chen said.
"Still, with a positive predictive value of 93.5%, this could be a useful tool for confirming a diagnosis of ASD, which could be useful for families seeking multiple assessments for the sake of clarity," said Chen.
"As with many new discoveries," she added, "there are many questions: what are the characteristics of children with ASD who have positive results on AADM?" Is this the first step to better understand the biological mechanism of the prevalent problems in AADM? children with ASD? " (like the difficulty of eating or sensory problems)?
"This study opens many other avenues for research exploration that could have a significant impact not only on the diagnosis of ASD, but also on a better understanding of the causes of cognitive or behavioral problems associated with ASD," he said. Chen said.
The study was funded by the National Institutes of Health, the Nancy Lurie Marks Family Foundation and the Robert E. Family Fund and Donna Landreth. Dr. Amaral receives research funding from Stemina, is a scientific advisor to Stemina Biomarker Discovery, Inc. and Axial Therapeutics, and is editor-in-chief of Research on autism. Dr. Chen did not reveal any relevant financial relationship.
Biol Psychiatry . Posted online September 6, 2018. Full text
For more Medscape Psychiatry news, join us on Facebook and Twitter.
[ad_2]
Source link
