Eunice Kennedy Shriver Center; Department of Psychiatry; Department of Pediatrics, Division of Development and Behavioral Pediatrics; Department of Pediatrics, Division of Pediatric Neurology
Biological Factors | Congenital, Hereditary, and Neonatal Diseases and Abnormalities | Diagnosis | Mental Disorders | Nervous System | Neurology | Neuroscience and Neurobiology | Pediatrics | Psychiatry | Psychiatry and Psychology
Background: Early identification and treatment of individuals with autism spectrum disorder (ASD) improves outcomes, but specific evidence needed to individualize treatment recommendations is lacking. Biomarkers that could be routinely measured within the clinical setting could potentially transform clinical care for patients with ASD. This demonstration project employed collection of biomarker data during regular autism specialty clinical visits and explored the relationship of biomarkers with clinical ASD symptoms.
Methods: Eighty-three children with ASD, aged 5-10 years, completed a multi-site feasibility study integrating the collection of biochemical (blood serotonin, urine melatonin sulfate excretion) and clinical (head circumference, dysmorphology exam, digit ratio, cognitive and behavioral function) biomarkers during routine ASD clinic visits. Parents completed a demographic survey and the Aberrant Behavior Checklist-Community. Cognitive function was determined by record review. Data analysis utilized Wilcoxon two-sample tests and Spearman correlations.
Results: Participants were 82% male, 63% White, 19% Hispanic, with a broad range of functioning. Group means indicated hyperserotonemia. In a single regression analysis adjusting for race and median household income, higher income was associated with higher levels of blood serotonin and urine melatonin sulfate excretion levels (p = 0.004 and p = 0.04, respectively). Melatonin correlated negatively with age (p = 0.048) and reported neurologic problems (p = 0.02). Dysmorphic status correlated with higher reported stereotyped behavior (p = 0.02) and inappropriate speech (p = 0.04).
Conclusion: This demonstration project employed collection of multiple biomarkers, allowed for examination of associations between biochemical and clinical measures, and identified several findings that suggest direction for future studies. This clinical research model has promise for integrative biomarker research in individuals with complex, heterogeneous neurodevelopmental disorders such as ASD.
ASD, autism, biomarkers, clinical research, dysmorphology, melatonin, serotonin
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Copyright © 2019 Bridgemohan, Cochran, Howe, Pawlowski, Zimmerman, Anderson, Choueiri, Sices, Miller, Ultmann, Helt, Forbes, Farfel, Brewster, Frazier and Neumeyer on behalf of the Autism Consortium Biomarkers Study Clinicians. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
DOI of Published Version
Front Integr Neurosci. 2019 Aug 2;13:31. doi: 10.3389/fnint.2019.00031. eCollection 2019. Link to article on publisher's site
Frontiers in integrative neuroscience
Bridgemohan C, Cochran DE, Zimmerman AW, Choueiri RN, Frazier JA. (2019). Investigating Potential Biomarkers in Autism Spectrum Disorder. Open Access Articles. https://doi.org/10.3389/fnint.2019.00031. Retrieved from https://escholarship.umassmed.edu/oapubs/3947
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