Abstract
We hypothesized metabolomic profiling could be utilized to identify children who scored poorly on the communication component of the Ages and Stages Questionnaire (ASQ); which assesses development in childhood, and to provide candidate biomarkers for autism spectrum disorders (ASD). In a population of three-year-old children, 15 plasma metabolites, were significantly (p < 0.05) different between children who were categorized as having communication skills that were “on schedule” (n = 365 (90.6%)) as compared to those “requiring further monitoring/evaluation” (n = 38 (9.4%)) according to multivariable regression models. Five of these metabolites, including three endocannabinoids, were also dysregulated at age one (n = 204 “on schedule”, n = 24 “further monitoring/evaluation”) in the same children. Stool metabolomic profiling identified 11 significant metabolites. Both the plasma and stool results implicated a role for tryptophan and tyrosine metabolism; in particular, higher levels of N-formylanthranilic acid were associated with an improved communication score in both biosample types. A model based on the significant plasma metabolites demonstrated high sensitivity (88.9%) and specificity (84.5%) for the prediction of autism by age 8. These results provide evidence that ASQ communication score and metabolomic profiling of plasma and/or stool may provide alternative approaches for early diagnosis of ASD, as well as insights into the pathobiology of these conditions.
Highlights
Autism spectrum disorders (ASD) are a collection of heterogeneous neurodevelopmental disorders characterized by persistent deficits in social communication and interaction across multiple contexts, including social reciprocity, nonverbal communicative behaviors, and skills in developing, maintaining, and understanding relationships [1]
We did not identify a global difference in the metabolomes of children “on schedule” versus those requiring “further monitoring/evaluation”, we did identify dysregulation of metabolism in both the plasma and stool of children with low ASQ communication scores in a number of metabolomic pathways that have previously been associated with autism and autism spectrum disorders (ASD)
This study was nested within the Vitamin D Antenatal Asthma Reduction Trial (VDAART); which aimed to assess the potential of vitamin D supplementation in pregnant women to prevent asthma in their offspring
Summary
Autism spectrum disorders (ASD) are a collection of heterogeneous neurodevelopmental disorders characterized by persistent deficits in social communication and interaction across multiple contexts, including social reciprocity, nonverbal communicative behaviors, and skills in developing, maintaining, and understanding relationships [1]. The Centers for Disease Control and Prevention recently released their bi-annual update of the prevalence of autism in the United States of America. 15% increase in cases since 2016, they predicted the prevalence would be 1 in every 59 children in. Current diagnostics involve behavioral observation and assessments of speech, language, and intellectual abilities. The average age of diagnosis in the United States is four years [2], parents often report signs of developmental delay as early as 18 months [3]. Earlier detection could allow for more effective treatment in improving social, communicative, adaptive and cognitive outcomes [4]
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