Author/Editor     Bj, Geir; Abdel Meguid, Nagwa; El-Ansary, Afaf; El-Bana, Mona A.; Dadar, Maryam; Aaseth, Jan; Hemimi, Maha; Osredkar, Joško; Chirumbolo, Salvatore
Title     Diagnostic and severity-tracking biomarkers for autism spectrum disorder
Type     članek
Vol. and No.     Letnik 66, št. 4
Publication year     2018
Volume     str. 492-511
ISSN     0895-8696 - Journal of molecular neuroscience : MN
Language     eng
Abstract     Autism spectrum disorder (ASD) is a neurodevelopmental disorder afflicting about one in every 68 children. It is behaviorally diagnosed based on a triad of symptoms, including impairment in communication, impairment in sociability and abnormal and stereotypic behavior. The subjectivity of behavioral diagnosis urges the need for clinical biomarker tests to improve and complement ASD diagnosis and treatment. Over the past two decades, researchers garnered a broad range of biomarkers associated with ASD and often correlating with the severity of ASD, which includes metabolic and genetic biomarkers or neuroimaging abnormalities. Metabolic biomarkers are either involved in key pathways such as a trans-sulfuration pathway or produced due to the derangement of these pathways in the case of oxidative stress. Recent studies reported several genetic abnormalities related to ASD, encompassing various mechanisms, from copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) to chromosomal anomalies. However, it is still premature to consider these genetic variants as true biomarkers for ASD, due to their low reproducibility and regional-specific nature. Herein, we comprehensively review state of the art about major biomarkers reported in ASD and the association of some biomarkers with ASD symptoms and severity. It is important to establish those biomarkers to be able to help in the diagnosis and to optimize the treatment of ASD.
Descriptors     Diagnostika
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