10/24/2023
We are excited to share our latest work in autism research, recently published in Frontiers in Psychiatry from the Children’s Autism Metabolome Project (CAMP). The CAMP study is the largest study of the metabolism of children, ages 18 to 48 months with autism. Samples from 499 autistic and 209 typically developing children were collected in a highly annotated, case-controlled study and analyzed using quantitative liquid chromatography tandem mass spectrometry (LC/MS).
Fifty-four metabolites were evaluated including amino acids, organic acids, acylcarnitines, purines, and others. Biomarkers of metabolic dysregulation were found, each representing 4.5-11% of the autism group, but not found in typically developing children. Hierarchical clustering segregated the autistic children into 30 subtypes and revealed altered regulation of cellular metabolism, most notably involving mitochondrial energy-related processes.
Many autistic children were identified by multiple biomarkers and clusters and this increase in biomarker clusters was associated with increased autism severity based on the ADOS. These biomarkers identified 72% of the autistic children with 90% specificity.
This new paper builds on our previous work and provides new insights into subtypes of potential dysregulation in the metabolism of autistic children. Metabolomic analyses hold the promise for the discovery of biomarkers that may prove useful for diagnosis, clinical monitoring and ultimately understanding the causes of autism. Our hope is that this research will contribute to a precision medicine approach with the goal of more targeted and effective treatments for the challenges faced by autistic individuals.
Autism Spectrum Disorder (ASD or autism) is a phenotypically and etiologically heterogeneous condition. Identifying biomarkers of clinically significant metabolic subtypes of autism could improve understanding of its underlying pathophysiology and potentially lead to more targeted interventions. We....
