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Clinical Assessment, Genetics, and Treatment Approaches in Autism Spectrum Disorder (ASD)
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Proteomics and Metabolomics Approaches towards a Functional Insight onto AUTISM Spectrum Disorders: Phenotype Stratification and Biomarker Discovery

1
Department of Laboratories, Unit of Parasitology and Area of Genetics and Rare Diseases, Unit of Human Microbiome, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, Italy
2
Area of Genetics and Rare Diseases, Unit of Human Microbiome, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, Italy
3
Department of Neuroscience, Unit of Head Child & Adolescent Psychiatry, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, Italy
4
Dipartimento di Gastroenterologia, Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario A. Gemelli IRCCS, Largo A. Gemelli 8, 00168 Rome, Italy
5
GENOMEUP S.R.L, Viale Pasteur 8, 00144 Rome, Italy
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Department of Specialist Pediatricians and Liver-Kidney Transplantation, Bambino Gesù Children’s Hospital, IRCCS, 00165 Rome, Italy
7
Department of Life Sciences and Public Health, Catholic University, 00153 Rome, Italy
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Istituto di Patologia Speciale Medica, Università Cattolica del Sacro Cuore, 00168 Rome, Italy
9
UOC Medicina Interna e Gastroenterologia, Area Gastroenterologia ed Oncologia Medica, Dipartimento di Scienze Gastroenterologiche, Endocrino-Metaboliche e Nefro-Urologiche, Fondazione Policlinico Universitario A. Gemelli IRCCS, 00168 Rome, Italy
*
Author to whom correspondence should be addressed.
Int. J. Mol. Sci. 2020, 21(17), 6274; https://doi.org/10.3390/ijms21176274
Received: 14 August 2020 / Revised: 25 August 2020 / Accepted: 27 August 2020 / Published: 30 August 2020
Autism spectrum disorders (ASDs) are neurodevelopmental disorders characterized by behavioral alterations and currently affect about 1% of children. Significant genetic factors and mechanisms underline the causation of ASD. Indeed, many affected individuals are diagnosed with chromosomal abnormalities, submicroscopic deletions or duplications, single-gene disorders or variants. However, a range of metabolic abnormalities has been highlighted in many patients, by identifying biofluid metabolome and proteome profiles potentially usable as ASD biomarkers. Indeed, next-generation sequencing and other omics platforms, including proteomics and metabolomics, have uncovered early age disease biomarkers which may lead to novel diagnostic tools and treatment targets that may vary from patient to patient depending on the specific genomic and other omics findings. The progressive identification of new proteins and metabolites acting as biomarker candidates, combined with patient genetic and clinical data and environmental factors, including microbiota, would bring us towards advanced clinical decision support systems (CDSSs) assisted by machine learning models for advanced ASD-personalized medicine. Herein, we will discuss novel computational solutions to evaluate new proteome and metabolome ASD biomarker candidates, in terms of their recurrence in the reviewed literature and laboratory medicine feasibility. Moreover, the way to exploit CDSS, performed by artificial intelligence, is presented as an effective tool to integrate omics data to electronic health/medical records (EHR/EMR), hopefully acting as added value in the near future for the clinical management of ASD. View Full-Text
Keywords: autism spectrum disorders (ASDs); proteomics; metabolomics; interactomics; disease biomarkers; clinical decision support systems (CDSSs) autism spectrum disorders (ASDs); proteomics; metabolomics; interactomics; disease biomarkers; clinical decision support systems (CDSSs)
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MDPI and ACS Style

Ristori, M.V.; Mortera, S.L.; Marzano, V.; Guerrera, S.; Vernocchi, P.; Ianiro, G.; Gardini, S.; Torre, G.; Valeri, G.; Vicari, S.; Gasbarrini, A.; Putignani, L. Proteomics and Metabolomics Approaches towards a Functional Insight onto AUTISM Spectrum Disorders: Phenotype Stratification and Biomarker Discovery. Int. J. Mol. Sci. 2020, 21, 6274. https://doi.org/10.3390/ijms21176274

AMA Style

Ristori MV, Mortera SL, Marzano V, Guerrera S, Vernocchi P, Ianiro G, Gardini S, Torre G, Valeri G, Vicari S, Gasbarrini A, Putignani L. Proteomics and Metabolomics Approaches towards a Functional Insight onto AUTISM Spectrum Disorders: Phenotype Stratification and Biomarker Discovery. International Journal of Molecular Sciences. 2020; 21(17):6274. https://doi.org/10.3390/ijms21176274

Chicago/Turabian Style

Ristori, Maria V.; Mortera, Stefano L.; Marzano, Valeria; Guerrera, Silvia; Vernocchi, Pamela; Ianiro, Gianluca; Gardini, Simone; Torre, Giuliano; Valeri, Giovanni; Vicari, Stefano; Gasbarrini, Antonio; Putignani, Lorenza. 2020. "Proteomics and Metabolomics Approaches towards a Functional Insight onto AUTISM Spectrum Disorders: Phenotype Stratification and Biomarker Discovery" Int. J. Mol. Sci. 21, no. 17: 6274. https://doi.org/10.3390/ijms21176274

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