A Metabolomics Approach to Screening for Autism Risk in the Children's Autism Metabolome Project.
Alan M Smith, Marvin R Natowicz, Daniel Braas and 5 others
PMID 32558271WHAT IT FOUND
A blood metabolite test battery detected 53% of autistic toddlers and left 91% of typically developing toddlers negative.
It is a research screening approach, not a clinical test, and needs prospective validation.
Key findings
01No single metabolite met the diagnostic criteria, but 34 metabolite ratios reproducibly identified autism-associated metabotypes.
02The optimized 14-test battery, combined with previously identified amino acid metabotypes, detected 53% of children with autism and left 91% of typically developing children negative.
03Succinate-positive children had 14% lower receptive language scores than succinate-negative children.
STILL TO COME
How it was doneWhat they foundWhat it means for SLPs
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What it does not show
The study used a case-control sample with about 70% of children having autism, so it does not show how the test performs in a routine screening population. Children with other neurodevelopmental disorders were not included, so it is unclear how selective the metabotypes are for autism. Only a portion of the plasma metabolome was evaluated, so additional metabotypes may be missed. The study cannot detect metabotype populations that occur in less than 5% of children with autism. Fasting plasma samples were used, so metabolic changes that appear only after physiological challenges may be missed. The test battery must be verified in a prospective study before it can be used for screening. Phenotype associations, including the language-score finding, need replication and extension. The table lists 209 typically developing children, while the discussion says 208.
Declared interests
Funded by the Nancy Lurie Marks Family Foundation and the National Institute of Mental Health. The supplied text does not state author conflicts of interest.
The easy way to misread this
Do not conclude that a blood test is ready to screen for autism. It was developed in a sample with about 70% of children having autism, needs prospective validation, and detected 53% of children with autism while leaving 91% of typically developing children negative.