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Published on: April 12, 2018
Investigating Potential Biomarkers in Autism Spectrum Disorder
Carolyn Bridgemohan1,2, David M Cochran3,4, Yamini J Howe2,5
1Boston Children's Hospital, Boston, MA, United States.
Insights
This study explored autism spectrum disorder (ASD) biomarkers in children, finding links between income and serotonin/melatonin levels, and between dysmorphic features and specific behaviors. This research model shows promise for future ASD biomarker studies.
Area of Science:
- Neuroscience
- Biochemistry
- Genetics
Background:
- Early identification and treatment of autism spectrum disorder (ASD) are crucial for improving outcomes.
- A lack of specific evidence hinders individualized treatment recommendations for ASD.
- Biomarkers measurable in clinical settings could revolutionize ASD patient care.
Purpose of the Study:
- To demonstrate the feasibility of collecting biomarker data during routine autism specialty clinical visits.
- To explore the relationship between various biomarkers and clinical symptoms in ASD.
- To investigate potential biochemical and clinical associations in a pediatric ASD cohort.
Main Methods:
- Eighty-three children (aged 5-10 years) with ASD participated in a multi-site feasibility study.
- Biochemical (blood serotonin, urine melatonin sulfate) and clinical (head circumference, dysmorphology, digit ratio, cognitive, behavioral) biomarkers were collected.
- Data analysis involved Wilcoxon two-sample tests and Spearman correlations.
Main Results:
- Participants were predominantly male (82%) and White (63%), with diverse functioning levels.
- Group means indicated hyperserotonemia; higher income correlated with increased blood serotonin and urine melatonin sulfate excretion.
- Melatonin levels negatively correlated with age and neurologic problems; dysmorphic status correlated with stereotyped behavior and inappropriate speech.
Conclusions:
- This project successfully collected multiple biomarkers, enabling examination of biochemical and clinical measure associations.
- Findings suggest directions for future research, including links between socioeconomic factors and specific biomarkers.
- The proposed clinical research model shows potential for integrative biomarker research in complex neurodevelopmental disorders like ASD.
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.
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