Current Psychiatry Reports

, 16:497 | Cite as

Biomarkers in the Diagnosis of ADHD – Promising Directions

  • Stephen V. Faraone
  • Cristian Bonvicini
  • Catia Scassellati
Attention-Deficit Disorder (A Rostain, Section Editor)
Part of the following topical collections:
  1. Topical Collection on Attention-Deficit Disorder


The etiology and pathogenesis of attention-deficit/hyperactivity disorder (ADHD) are unclear and a more valid diagnosis would certainly be welcomed. Starting from the literature, we built an hypothetical pyramid representing a putative set of biomarkers where, at the top, variants in DAT1 and DRD4 genes are the best candidates for their associations to neuropsychological tasks, activation in specific brain areas, methylphenidate response and gene expression levels. Interesting data come from the noradrenergic system (norepinephrine transporter, norepinephrine, 3-methoxy-4-hydroxyphenylglycol, monoamine oxidase, neuropeptide Y) for their altered peripheral levels, their association with neuropsychological tasks, symptomatology, drugs effect and brain function. Other minor putative genetic biomarkers could be dopamine beta hydroxylase and catechol-O-methyltransferase. In the bottom, we placed endophenotype biomarkers. A more deep integration of “omics” sciences along with more accurate clinical profiles and new high-throughput computational methods will allow us to identify a better list of biomarkers useful for diagnosis and therapies.


Biomarkers Attention-deficit/hyperactivity disorder Dopaminergic pathway Noradrenergic pathway Metabolism enzymes CNS developmental network Environmental risk factors Endophenotypes SLC6A3 DRD4 DBH COMT Reaction time variability Vigilance/sustained attention Executive functions Working memory EEG Theta/Beta ratio 



This research was supported by grants from the Fondazione Mariani (RF2006) and from the Italian Ministry of Health (Ricerca Corrente).

Compliance with Ethics Guidelines

Conflict of Interest

Cristian Bonvicini Ph.D., Catia Scassellati declare that they have no conflict of interest.

In the past year, Stephen V. Faraone received consulting income, travel expenses and/or research support from Ironshore, Shire, Akili Interactive Labs, Alcobra, VAYA Pharma, and SynapDx and research support from the National Institutes of Health (NIH). His institution is seeking a patent for the use of sodium-hydrogen exchange inhibitors in the treatment of ADHD. In previous years, he received consulting fees or was on Advisory Boards or participated in continuing medical education programs sponsored by: Shire, Alcobra, Otsuka, McNeil, Janssen, Novartis, Pfizer and Eli Lilly. Dr. Faraone receives royalties from books published by Guilford Press: Straight Talk about Your Child’s Mental Health and Oxford University Press: Schizophrenia: The Facts.

Human and Animal Rights and Informed Consent

This article does not contain any studies with human or animal subjects performed by any of the authors.


Papers of particular interest, published recently, have been highlighted as: • Of importance •• Of major importance

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Copyright information

© Springer Science+Business Media New York 2014

Authors and Affiliations

  • Stephen V. Faraone
    • 1
    • 2
  • Cristian Bonvicini
    • 3
  • Catia Scassellati
    • 3
  1. 1.Department of PsychiatrySUNY Upstate Medical UniversitySyracuseUSA
  2. 2.Department of Neuroscience and PhysiologySUNY Upstate Medical UniversitySyracuseUSA
  3. 3.Genetic Unit - IRCCS “Centro S. Giovanni di Dio” FatebenefratelliBresciaItaly

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