Umbilical cord blood test could predict autism risk

Umbilical cord blood test could predict autism risk

Summary: A recent study suggests that measuring specific fatty acid metabolites in the blood of newborns could predict the risk of autism spectrum disorder (ASD). Researchers found that higher levels of certain metabolites were linked to increased ASD symptoms in six-year-olds.

This discovery could lead to earlier diagnoses and interventions, potentially improving outcomes for children with ASD. The study highlights the importance of prenatal factors in the development of ASD.

Highlights:

  1. Higher levels of diHETrE in the newborn’s blood are linked to increased ASD symptoms.
  2. The study involved analyzing the umbilical cord blood of 200 children.
  3. Early detection of ASD through blood tests could improve intervention strategies.

Source: University of Fukui

Autism spectrum disorder (ASD) is a neurodevelopmental disorder that affects individuals’ learning ability and social behavior. In recent decades, awareness of ASD has increased, particularly regarding its prevalence and impact on the lives of individuals diagnosed with ASD. However, several aspects related to ASD are not well understood, leaving much to be explored.

Although the exact causes of ASD are unclear, currently available data indicate that neuroinflammation is a major factor. Several studies in mouse models of ASD have highlighted the importance of polyunsaturated fatty acids (PUFAs) and their metabolites during pregnancy, which play a key role in the development of ASD.

Umbilical cord blood test could predict autism risk
After careful statistical analyses of the results, the researchers identified a compound in umbilical cord blood that could have strong implications for the severity of ASD: 11,12-dihydroxyeicosatrienoic acids (diHETrE), a dihydroxy fatty acid derived from arachidonic acid. Credit: Neuroscience News

Cytochrome P450 (CYP)-regulated polyunsaturated fatty acid metabolites affect fetal development in mice, causing disorders closely related to ASD symptoms. However, it is not yet known whether this is also true for humans and further research is needed.

To fill this knowledge gap, a Japanese research team consisting of Professor Hideo Matsuzaki from the University of Fukui Child Mental Development Research Center, Dr. Takaharu Hirai from the Department of Psychiatric and Mental Health Nursing, School of Nursing, University of Fukui, and Dr. Naoko Umeda from the Department of Maternal and Child Health Nursing, School of Nursing, University of Fukui, analyzed CYP-PUFA levels in neonatal umbilical cord blood samples.

Their study, published on July 23, 2024 in Psychiatry and clinical neuroscienceshighlights possible causes of ASD.

Sharing the motivation behind their study, Professor Matsuzaki explains: “CYP metabolism forms both epoxy fatty acids (EpFAs), which have anti-inflammatory effects, and dihydroxy fatty acids, or ‘diols,’ which have inflammatory properties.

“We hypothesized that CYP-PUFA metabolite dynamics during the fetal period, i.e., lower EpFA levels, higher diol levels, and/or higher EpFA metabolic enzymes, might influence ASD symptoms and difficulties in daily functioning in children after birth.”

To test this hypothesis, the researchers studied the association between polyunsaturated fatty acid metabolites in umbilical cord blood and ASD scores in 200 children. Cord blood samples were collected immediately after birth and stored appropriately, while ASD symptoms and adaptive functioning were assessed when the same children were six years old, with the help of their mothers.

After careful statistical analyses of the results, the researchers identified a compound in umbilical cord blood that could have strong implications for the severity of ASD: 11,12-dihydroxyeicosatrienoic acids (diHETrE), a dihydroxy fatty acid derived from arachidonic acid.

“Levels of diHETrE, a diol derived from arachidonic acid, in umbilical cord blood at birth had a significant impact on later ASD symptoms in children and were also associated with impaired adaptive functioning. These results suggest that diHETrE dynamics during the fetal period are important in the developmental trajectory of children after birth,” emphasizes Professor Matsuzaki.

More specifically, the researchers found that high levels of the molecule 11,12-diHETrE impacted social interactions, while low levels of 8,9-diHETrE impacted repetitive and restrictive behaviors. Moreover, this correlation was more specific for girls than for boys.

This new knowledge could prove crucial for understanding, diagnosing, and potentially preventing ASD. By measuring diHETrE levels at birth, it may be possible to predict the likelihood of children developing ASD.

“The effectiveness of early intervention for children with ASD is well established and detecting it at birth could improve intervention and support for children with ASD,” says Professor Matsuzaki.

He also adds that inhibiting diHETrE metabolism during pregnancy could be a promising avenue to prevent ASD traits in children, although further research is needed in this regard.

In conclusion, these results open a promising avenue for researchers wishing to unravel the mysteries surrounding ASD. We hope that better understanding and early diagnosis will improve the lives of people with ASD and their families.

About this autism research news

Author: NAOKI TSUKAMOTO
Source: University of Fukui
Contact: NAOKI TSUKAMOTO – Fukui University
Picture: Image credited to Neuroscience News

Original research: Free access.
“Arachidonic acid-derived dihydroxy fatty acids in neonatal umbilical cord blood link autism spectrum disorder symptoms and adaptive social functioning: Hamamatsu Mother-Child Birth Cohort (HBC Study)” by Hideo Matsuzaki et al. Psychiatry and clinical neurosciences


Abstract

Arachidonic acid-derived dihydroxy fatty acids in neonatal umbilical cord blood link autism spectrum disorder symptoms to adaptive social functioning: Hamamatsu Maternal-Child Birth Cohort (HBC Study)

Aim

Autism spectrum disorders (ASD) are associated with abnormal lipid metabolism, such as a high total ratio of omega-6 to omega-3 in polyunsaturated fatty acids (PUFAs). PUFAs are metabolized to epoxy fatty acids by cytochrome P450 (CYP); then, the dihydroxy fatty acid is produced by soluble epoxide hydrolase. This study examined the association between PUFA metabolites in umbilical cord blood and ASD symptoms and adaptive functioning in children.

Methods

This prospective cohort study used umbilical cord blood to quantify polyunsaturated fatty acid metabolites of the CYP pathway. The Autism Diagnostic Observation Schedule (ADOS-2) and the Vineland Adaptive Behavior Scales, Second Edition (VABS-II) were used to assess later ASD symptoms and adaptive functioning in children at 6 years of age. The analysis included 200 children and their mothers.

Results

Arachidonic acid-derived diols, 11,12-diHETrE, were found to impact ASD symptom severity on severity scores calibrated by ADOS-2 and on socialization domain impairment as assessed by the VABS-II (P = 0.0003; P= 0.004, respectively). High levels of 11,12-diHETrE impact social affect in ASD symptoms (P= 0.002), while low levels of 8,9-diHETrE impact repetitive/restrictive behavior (P= 0.003). There is notably a specificity in the association between diHETrE and ASD symptoms, particularly in girls.

Conclusion

These results suggest that diHETrE dynamics during the fetal period are important in the developmental trajectory of children after birth. Given the role of diol metabolites in neurodevelopment in vivois completely uncharacterized, the results of this study provide important insight into the role of diHETrE and the pathophysiology of ASD.

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