Case-ControlMolecular autism2018

Advanced glycation endproducts, dityrosine and arginine transporter dysfunction in autism - a source of biomarkers for clinical diagnosis.

Attia Anwar, Provvidenza Maria Abruzzo, Sabah Pasha and 8 others

PMID 29479405

WHAT IT FOUND

A blood test measuring protein damage markers correctly identified 88% of children with autism in this small study.

These markers reflect metabolic stress, not behavior. The test is not ready for clinical use and requires validation in larger, independent groups before diagnosis.

Key findings

01Children with ASD had significantly higher levels of specific protein damage markers (CML, CMA, and DT) in their blood compared to healthy controls.

02A diagnostic algorithm using four of these blood markers achieved 88% accuracy and an AUROC of 0.94 in distinguishing children with ASD from controls.

03Renal clearance of arginine and CMA was significantly decreased in children with ASD, suggesting potential amino acid transporter dysfunction.

STILL TO COME

How it was doneWhat they found

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What it does not show

Small sample size (69 children total). Single-center study in Italy. Machine learning models were trained and tested on the same small dataset, risking overfitting. No independent validation cohort was used. The study does not establish causation, only association. Participants were not matched for all potential confounders, though diet and medication were controlled.

Declared interests

Funded by Warwick Impact Fund, Fondazione del Bologna e Ravenna, and Fondazione Nando Peretti.

The easy way to misread this

Do not interpret the 88% diagnostic accuracy as evidence that autism can be diagnosed with a blood test. The algorithm was trained on a small, specific group of children and has not been validated in independent populations. Clinical diagnosis remains based on behavioral observation.

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The study

Participants
69 children (38 with ASD, 31 typically developing)
Certainty of evidence
Low

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    Cite

    Attia Anwar, Provvidenza Maria Abruzzo, Sabah Pasha, et al. Advanced glycation endproducts, dityrosine and arginine transporter dysfunction in autism - a source of biomarkers for clinical diagnosis. Molecular autism. 2018.

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