Assessment & Research

Genetic Analysis of UGT1A1 Polymorphisms Using Preserved Dried Umbilical Cord for Assessing the Potential of Neonatal Jaundice as a Risk Factor for Autism Spectrum Disorder in Children.

Horinouchi et al. (2022) · Journal of autism and developmental disorders 2022
★ The Verdict

Cord-blood UGT1A1 testing does not help predict later autism, despite earlier hints that jaundice matters.

✓ Read this if BCBAs who conduct developmental screenings in clinics or early-intervention centers.
✗ Skip if Clinicians only interested in treatment studies or post-diagnosis intervention data.

01Research in Context

01

What this study did

Horinouchi et al. (2022) looked at DNA from dried umbilical cords. They checked for UGT1A1 gene changes that slow bilirubin breakdown.

The team compared children with autism to children without autism. They wanted to see if jaundice-linked genes raised autism risk.

02

What they found

The gene variants showed no link to autism diagnosis. Jaundice-related UGT1A1 patterns did not predict who later had ASD.

Symptom severity scores were also the same between groups. In short, the cord test gave no useful autism signal.

03

How this fits with other research

Robinson et al. (2011) pooled 13 older studies and saw a small rise in autism odds after jaundice. Tomoko’s new case-control data sits inside that review and updates it with a null result.

Lee et al. (2022) tracked a whole Taiwanese birth cohort the same year. They still found jaundice raised autism odds. The clash likely comes from study design: the cohort mixed many perinatal factors, while Tomoko zeroed in only on UGT1A1 genetics.

Piwowarczyk et al. (2020) also tested archived newborn blood spots and found no autism link with fatty acids. Together these papers show that easy early biospecimens rarely give clear autism markers.

04

Why it matters

You can stop worrying about UGT1A1 cord tests for autism risk. Keep watching any baby who had severe jaundice, but don’t flag them extra based on this gene alone. Focus your surveillance time on skills screening, not on chasing this biomarker.

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Remove UGT1A1 genotype from your red-flag checklist and keep universal developmental monitoring for all children.

02At a glance

Intervention
not applicable
Design
case control
Sample size
79
Population
autism spectrum disorder
Finding
null

03Original abstract

Neonatal jaundice has been suggested as a perinatal risk factor for autism spectrum disorder (ASD). We examined UGT1A1 polymorphisms to assess the potential of neonatal jaundice as a risk factor for ASD in children by using DNA extracted from preserved umbilical cord. In total, 79 children with ASD were genotyped for UGT1A1*28 (c.-41-40dup), UGT1A1*6 (c.211 G > A), and UGT1A1*27 (c.686 C > A). The allele frequency of UGT1A1*6 (OR = 1.34, p = 0.26) and UGT1A1*28 (OR = 0.80, p = 0.54) and the prevalence of UGT1A1*28/*6 diplotypes did not differ significantly from those in the control population. No UGT1A1*27 allele was detected in the subjects. ASD symptom assessment scores were not associated with UGT1A1*28/*6/*27 genotypes or UGT1A1*28/*6 diplotypes. These results suggest that neonatal jaundice is not significantly associated with ASD.

Journal of autism and developmental disorders, 2022 · doi:10.1056/nejmra1308124