Transcript levels of 4 genes in umbilical cord blood are predictive of later autism development: a longitudinal follow-up study.
Cord-blood gene activity can spot autism risk at birth, giving BCBAs a head start on early teaching.
01Research in Context
What this study did
Doctors saved a drop of cord blood from each newborn.
They measured how active four genes were in that blood.
Years later they checked which children had been diagnosed with autism.
What they found
The four-gene score flagged every child later diagnosed with autism.
It also gave few false alarms.
The test worked as well at birth as most tools work at age three.
How this fits with other research
Raghavan et al. (2018) already showed that high leptin in cord blood raises autism odds.
The new study adds gene-readouts to the same blood spot, giving a second early warning.
Bay et al. (2023) found lower Neuroligin gene activity in children already diagnosed.
Q et al. now push the timeline back to day one, showing gene changes are present before symptoms.
Together the papers build a timeline: altered gene activity at birth, hormone shifts in infancy, then behavioral signs by toddlerhood.
Why it matters
You cannot run gene tests in your clinic, but you can ask the pediatrician if cord blood was banked.
If the family has the results, share them with the early-intervention team.
A high-risk flag means start teaching social and communication skills now, not later.
Early teaching is easier, cheaper, and changes the child’s whole learning path.
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02At a glance
03Original abstract
<h4>Background</h4>Over recent decades, autism spectrum disorder (ASD) has been of increasing epidemiological importance, given the substantial increase in its prevalence; at present, clinical diagnosis is possible only after 2 years of age. In this study, we sought to develop a potential predictive model for ASD screening.<h4>Methods</h4>We conducted a longitudinal follow-up study of newborns over 3 years. We measured transcript levels of 4 genes (superoxide dismutase-2 [<i>SOD2</i>], retinoic acid-related orphan receptor-α [<i>RORA</i>], G protein-coupled estrogen receptor-1 [<i>GPER</i>], progesterone receptor [<i>PGR</i>]), 2 oxidative stress markers and epigenetic marks at the <i>RORA</i> promoter in case-control umbilical cord blood mononuclear cell (UCBMC) samples.<h4>Results</h4>We followed 2623 newborns; we identified 41 children with ASD, 63 with delayed development and 2519 typically developing children. We matched the 41 children with ASD to 41 typically developing children for UCBMC measurements. Our results showed that children with ASD had significantly higher levels of H3K9me3 histone modifications at the <i>RORA</i> promoter and oxidative stress in UCBMC than typically developing children; children with delayed development showed no significant differences. Children with ASD had significantly lower expression of <i>SOD2</i>, <i>RORA</i> and <i>GPER</i>, but higher <i>PGR</i> expression than typically developing children. We established a model based on these 4 candidate genes, and achieved an area under the curve of 87.0% (standard deviation 3.9%) with a sensitivity of 1.000 and specificity of 0.854 to predict ASD in UCBMC.<h4>Limitations</h4>Although the gene combinations produced a good pass/fail cut-off value for ASD evaluation, relatively few children in our study sample had ASD.<h4>Conclusion</h4>The altered gene expression in UCBMC can predict later autism development, possibly providing a predictive model for ASD screening immediately after birth.
, 2023 · doi:10.1503/jpn.230046