Biomarkers in autism spectrum disorder: The old and the new

Barbara Ruggeri, Ugis Sarkans, Gunter Schumann, Antonio M. Persico

Research output: Contribution to journalArticlepeer-review


Rationale: Autism spectrum disorder (ASD) is a complex heterogeneous neurodevelopmental disorder with onset during early childhood and typically a life-long course. The majority of ASD cases stems from complex, 'multiple-hit', oligogenic/polygenic underpinnings involving several loci and possibly gene-environment interactions. These multiple layers of complexity spur interest into the identification of biomarkers able to define biologically homogeneous subgroups, predict autism risk prior to the onset of behavioural abnormalities, aid early diagnoses, predict the developmental trajectory of ASD children, predict response to treatment and identify children at risk for severe adverse reactions to psychoactive drugs. Objectives: The present paper reviews (a) similarities and differences between the concepts of 'biomarker' and 'endophenotype', (b) established biomarkers and endophenotypes in autism research (biochemical, morphological, hormonal, immunological, neurophysiological and neuroanatomical, neuropsychological, behavioural), (c) -omics approaches towards the discovery of novel biomarker panels for ASD, (d) bioresource infrastructures and (e) data management for biomarker research in autism. Results: Known biomarkers, such as abnormal blood levels of serotonin, oxytocin, melatonin, immune cytokines and lymphocyte subtypes, multiple neuropsychological, electrophysiological and brain imaging parameters, will eventually merge with novel biomarkers identified using unbiased genomic, epigenomic, transcriptomic, proteomic and metabolomic methods, to generate multimarker panels. Bioresource infrastructures, data management and data analysis using artificial intelligence networks will be instrumental in supporting efforts to identify these biomarker panels. Conclusions: Biomarker research has great heuristic potential in targeting autism diagnosis and treatment.

Original languageEnglish
Pages (from-to)1201-1216
Number of pages16
Issue number6
Publication statusPublished - Mar 2014


  • Autism
  • Biobank
  • Biomarker
  • Endophenotype
  • Macrocephaly
  • Melatonin
  • Metabolomics
  • Oxytocin
  • Serotonin

ASJC Scopus subject areas

  • Pharmacology


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