The contribution of metabolomics to the early diagnosis of autism
THE’autism It is a neurodevelopmental disorder characterized by difficulties in social communication and repetitive behaviors. Due to the large clinical heterogeneity of the disorder, early diagnosis remains complex. metabolomics, or the study of metabolites in body fluids, is emerging as a promising tool for identifying biomarkers useful for the early diagnosis of autism, especially in subjects at risk such as siblings of autistic children or carriers of genetic syndromes. Recent studies have highlighted alterations in amino acid metabolism, oxidative stress, mitochondrial dysfunctions And metabolites derived from the intestinal microbiota in subjects with autism spectrum disorder (ASD).
Metabolites and severity of the clinical profile
Metabolomics can also help understand the variability of symptoms of autism. Some metabolites, such as p-cresol and theHPHPA, are associated with the severity of symptoms and are produced by intestinal bacteria (such as Clostridia spp.). High levels of these compounds appear to correlate with repetitive behaviors and cognitive impairments. Alterations in the levels of neurotransmitters (such as serotonin and GABA) are linked to more marked symptoms. Furthermore, in children with developmental regression, distinctive metabolic profiles have emerged, suggesting that certain metabolites may reflect different clinical trajectories. In this perspective, metabolomics could contribute to the phenotypic stratification and to the personalization of interventions.
Metabolomics and comorbidity in autism
People with autism spectrum disorder often present associated medical conditions, in particular gastrointestinal disorders And of sleep. The difficulty in communication makes these issues difficult to identify. Metabolites produced by the intestinal microbiota, detected through metabolomic analyses, can offer biological clues on these disorders. For example, abnormal levels of serotonin, melatonin or specific organic acids have been linked to sleep or intestinal disorders. In this sense, metabolomics can become a valuable ally for the integrated clinical management of the patient with autism, improving the quality of life and the effectiveness of treatments.
For further information:
Siracusano M, Arturi L, Riccioni A, Noto A, Mussap M, Mazzone L. Metabolomics: Perspectives on Clinical Employment in Autism Spectrum Disorder. Int J Mol Sci. 2023 Aug 29;24(17):13404. doi: 10.3390/ijms241713404.