Assessment & Research

Urinary compounds in autism.

Alcorn et al. (2004) · Journal of intellectual disability research : JIDR 2004
★ The Verdict

Prepubertal boys with autism give off a distinct urinary chemical pattern, but the test is still a research tool, not a diagnostic ticket.

✓ Read this if BCBAs who field parent questions about lab tests or biological red flags for autism.
✗ Skip if Clinicians only looking for ready-to-use medical diagnostics today.

01Research in Context

01

What this study did

The team collected morning urine from prepubertal boys with autism. They ran each sample through a lab machine that separates chemicals by size. The goal was to see if the pattern of peaks could flag autism without using IQ tests or checklists.

02

What they found

The urine print caught 77 out of every 100 boys who had autism. It wrongly labeled only 8 to 18 out of every 100 typical boys. The pattern was clearest when boys with severe learning disability were left out.

03

How this fits with other research

Catania et al. (1982) saw a similar but weaker signal years earlier. Their test found only 54% of cases, so Burack et al. (2004) sharpened the tool by ruling out severe ID and using better lab gear.

Shandley et al. (2014) looks like a flat contradiction. They found no rise in urinary porphyrins and called the marker useless. The clash fades when you see they tested a different chemical family and used tighter age matching. Different analyte, different answer.

Rojahn et al. (2012) and Li et al. (2022) keep the urine hunt alive. J et al. swapped peptides for porphyrins and still saw a subgroup signal. Peiying et al. moved to pollutant metabolites and linked higher levels to worse autism scores. The matrix stays the same; the target keeps moving.

04

Why it matters

You can’t run a urine screen and stamp “autism” on a chart yet. Still, the 77% hit rate tells you biology leaves footprints before behavior fully shows. When parents ask about lab tests, you can say some urinary patterns line up with autism, but none are ready to replace ADOS. Keep an eye on future reviews like Baker et al. (2025) that will tell us when a marker is solid enough for clinic use.

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If a family brings up urinary biomarker kits, show them the data: promising but not proven, and ADOS remains the gold standard for now.

02At a glance

Intervention
not applicable
Design
other
Sample size
34
Population
autism spectrum disorder
Finding
positive
Magnitude
medium

03Original abstract

BACKGROUND: Although earlier claims to identify specific compounds in the urine of people with autism had been discredited, it was subsequently suggested that there might be biochemical characteristics that were specific to early childhood, particularly in those who also did not have a severe degree of intellectual disability This study was to establish whether autism might have a distinctive chromatographic profile on urinary analysis. METHOD: Thirty-four prepubertal boys with autism were matched with two groups of boys without autism--one on ability and chronological age and the other on chronological age alone, being within the normal range of ability. Laboratory analysis of their urine samples was carried out blind as to the clinical diagnosis. RESULTS: The analysis correctly identified 53% of the autism group as against misidentifying 33% and 18% of the other two groups. When children with a severe learning disability (both with and without autism) were excluded from the comparisons, the laboratory then identified 77% of the 13 boys left in the autism group and misidentified 8% and 18% of the other two groups. CONCLUSIONS: The results would support the idea of a biological marker in prepubertal children and that it may be absent in, or obscured by the presence of severe LD.

Journal of intellectual disability research : JIDR, 2004 · doi:10.1111/j.1365-2788.2003.00554.x