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Psychopharmacology

, Volume 231, Issue 6, pp 1201–1216 | Cite as

Biomarkers in autism spectrum disorder: the old and the new

  • Barbara Ruggeri
  • Ugis Sarkans
  • Gunter Schumann
  • Antonio M. Persico
Review

Abstract

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.

Keywords

Autism Biobank Biomarker Endophenotype Macrocephaly Melatonin Metabolomics Oxytocin Serotonin 

Notes

Acknowledgments

This work was supported by the Italian Ministry for University, Scientific Research and Technology (PRIN no. 2006058195 and no. 2008BACT54_002), the Italian Ministry of Health (RFPS-2007-5-640174 and RF-2011-02350537), the Fondazione Gaetano e Mafalda Luce (Milan, Italy), Autism Aid ONLUS (Naples, Italy), Autism Speaks (Princeton, NJ), the Autism Research Institute (San Diego, CA), the European Molecular Biology Laboratory (EMBL), and the Innovative Medicines Initiative Joint Undertaking (EU-AIMS, no. 115300).

Conflict of interest

None declared.

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Copyright information

© Springer-Verlag Berlin Heidelberg 2013

Authors and Affiliations

  • Barbara Ruggeri
    • 1
  • Ugis Sarkans
    • 2
  • Gunter Schumann
    • 1
  • Antonio M. Persico
    • 3
  1. 1.MRC Social, Genetic and Developmental Psychiatry Centre, Institute of PsychiatryKing’s College LondonLondonUK
  2. 2.European Molecular Biology LaboratoryEuropean Bioinformatics InstituteHinxtonUK
  3. 3.Child and Adolescent NeuroPsychiatry Unit, Laboratory of Molecular Psychiatry & NeurogeneticsUniversity “Campus Bio-Medico”RomeItaly

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