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A Prospective Birth Cohort Study on the Association Between Cord Blood Acylcarnitine Profile and Childhood Risk of
Xueqi Qu1, Mengmeng Li1, Marilyn Augustyn2
1Johns Hopkins Bloomberg School of Public Health, Baltimore, Maryland.
Insights
Cord blood acylcarnitines, linked to mitochondrial function, are associated with increased childhood risk for autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD). These findings suggest mitochondrial fatty acid metabolism plays a role in neurodevelopmental disorders (NDDs).
Area of Science:
- Biochemistry
- Neuroscience
- Pediatrics
Background:
- Mitochondria are implicated in autism spectrum disorder (ASD) etiology.
- Evidence linking mitochondria to attention-deficit/hyperactivity disorder (ADHD) is limited.
- High comorbidity exists between ASD and ADHD, suggesting shared underlying mechanisms.
Purpose of the Study:
- To investigate the prospective association between 20 cord blood acylcarnitines and childhood risk of ASD, ADHD, and other neurodevelopmental disorders (NDDs).
- To explore the role of mitochondrial fatty acid metabolism in NDDs.
Main Methods:
- Analysis of 995 children from the Boston Birth Cohort.
- Profiling of 20 acylcarnitines in cord blood using liquid chromatography-tandem mass spectrometry.
- Logistic regression analysis adjusted for maternal and child characteristics to assess associations between acylcarnitines and NDDs.
Main Results:
- Higher levels of short-chain and long-chain acylcarnitines in cord blood were associated with increased ADHD risk.
- The highest tertile of long-chain acylcarnitine principal component (PC) scores indicated nearly double the odds of ADHD (adjusted OR = 1.98).
- A 1-unit increase in medium-chain acylcarnitine PC scores was linked to a 1.38 times higher odds of ASD.
Conclusions:
- Cord blood acylcarnitines are prospectively associated with the risk of developing ASD, ADHD, and other NDDs.
- These findings underscore the significance of mitochondrial fatty acid metabolism in the pathophysiology of NDDs.
- Acylcarnitines may represent potential targets for future research and interventions for NDDs.
Objective:
Mitochondria have been implicated in the etiology of autism spectrum disorder (ASD), but evidence for attention-deficit/hyperactivity disorder (ADHD) remains limited. Given the early onset of both ASD and ADHD and high degree of comorbidity, this study sought to examine the prospective association of 20 acylcarnitines in cord blood-a group of metabolites involved in mitochondrial fatty acid metabolism-with childhood risk of ASD, ADHD, and other neurodevelopmental disorders (NDDs).
Method:
This study includes 995 children (55% male participants, 58% non-Hispanic Black) from the Boston Birth Cohort. Acylcarnitines in cord blood were profiled using liquid chromatography-tandem mass spectrometry. Logistic regressions examined individual acylcarnitines and their 3 principal components (PC) in relation to childhood ADHD (n = 285), ASD (n = 86), and other NDDs (n = 246) compared to those in typically developing children (n = 378), with adjustment of maternal and child characteristics.
Results:
Children with higher levels of short-chain and long-chain acylcarnitines in cord blood (including C2, C3, C3-DC-CH3, C14, C16, C18, and C18:1) had a greater risk of childhood ADHD. The highest tertile of long-chain acylcarnitine PC scores was associated with 1.98 times odds of ADHD (adjusted OR = 1.98; 95% CI = 1.29-3.06), compared to the lowest tertile. A 1-unit increase in medium-chain PC scores was associated with 1.38 times odds of ASD (adjusted OR = 1.38; 95% CI = 1.01-1.90).
Conclusion:
This prospective birth cohort study found that cord blood acylcarnitines were associated with childhood risk of ASD, ADHD, and other NDDs, highlighting the important role of mitochondrial fatty acid metabolism in NDDs and potential targets for investigation and interventions.
Plain Language Summary:
Altered mitochondrial function has been associated with autism spectrum disorder (ASD), but evidence for attention-deficit/hyperactivity disorder (ADHD) remains limited. This prospective study of a racially diverse birth cohort (N = 995) found associations between increased levels of cord blood acylcarnitines-a group of metabolites involved in mitochondrial fatty acid metabolism-and a higher likelihood of ADHD and ASD diagnosis. These findings highlight the potential role of mitochondrial fatty acid metabolism in neurodevelopmental disorders and potential targets for investigation and interventions.
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