Biomarkers in the Diagnosis of ADHD – Promising Directions

  title={Biomarkers in the Diagnosis of ADHD – Promising Directions},
  author={Stephen V. Faraone and Cristian Bonvicini and Catia Scassellati},
  journal={Current Psychiatry Reports},
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… 
Common and specific genes and peripheral biomarkers in children and adults with attention-deficit/hyperactivity disorder
  • C. Bonvicini, S. Faraone, C. Scassellati
  • Biology, Medicine
    The world journal of biological psychiatry : the official journal of the World Federation of Societies of Biological Psychiatry
  • 2018
Through a convergent functional genomics, this review contributes to clarification of which genetic/biological mechanisms differ with age, and some genes/proteins could be potential useful biomarkers to discriminate cADHD from aADHD.
Potential for diagnosis versus therapy monitoring of attention deficit hyperactivity disorder: a new epigenetic biomarker interacting with both genotype and auto-immunity
In view of the need for easily accessible biomarkers, we evaluated in ADHD children the epigenetic status of the 5′-untranslated region (UTR) in the SLC6A3 gene, coding for human dopamine transporter
Imaging genetics in attention-deficit/hyperactivity disorder and related neurodevelopmental domains: state of the art
It is found that IG studies on ADHD generally focus on dopaminergic genes and the structure of basal ganglia using structural Magnetic Resonance Imaging (MRI).
Genetics in the ADHD Clinic: How Can Genetic Testing Support the Current Clinical Practice?
A brief review of the genome-wide and candidate gene association studies with a focus on the clinical aspects, summarizing findings of ADHD disease risk, ADHD core symptoms as dimensional traits, and other traits frequently associated with ADHD which may contribute to the susceptibility to other comorbid psychiatric disorders.
Blood-Bourne MicroRNA Biomarker Evaluation in Attention-Deficit/Hyperactivity Disorder of Han Chinese Individuals: An Exploratory Study
As measured in peripheral blood, miRNA-based biomarkers can aid in the differentiation of ADHD in clinical settings and demonstrate good validity in differentiating ADHD patients from control subjects.
From gene to disorder in ADHD: Mapping mechanisms at different levels of complexity
Among other findings, it is able to show that ADHD and the intracranial volume are significantly negatively correlated at the global genetic level, resembling earlier phenotypic observations.
SHR/NCrl rats as a model of ADHD can be discriminated from controls based on their brain, blood, or urine metabolomes
In the brain, SHR/NCrl rats displayed modifications in metabolic pathways related to energy metabolism and oxidative stress further supporting their importance in the pathophysiology of ADHD bringing news arguments in favor of the Neuroenergetic theory of ADHD.
Brain imaging genetics in ADHD and beyond – Mapping pathways from gene to disorder at different levels of complexity
Pilot study indicate role of preferentially transmitted monoamine oxidase gene variants in behavioral problems of male ADHD probands
It may be inferred that the MAOA and MAOB variants may contribute to the etiology of ADHD in the Indo-Caucasoid population and could be responsible for higher occurrence of hyperactivity in the boys.


Biomarkers for attention-deficit/hyperactivity disorder (ADHD). A consensus report of the WFSBP task force on biological markers and the World Federation of ADHD
  • J. Thome, A. Ehlis, M. Gerlach
  • Biology
    The world journal of biological psychiatry : the official journal of the World Federation of Societies of Biological Psychiatry
  • 2012
Most likely, no single ADHD biomarker can be identified, however, the use of a combination of markers may help to reduce heterogeneity and to identify homogeneous subtypes of ADHD.
The neurobiology and genetics of Attention-Deficit/Hyperactivity Disorder (ADHD): what every clinician should know.
  • S. Cortese
  • Psychology, Biology
    European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
  • 2012
Progress and Promise of Attention-Deficit Hyperactivity Disorder Pharmacogenetics
One strategy for understanding variability in attention-deficit hyperactivity disorder (ADHD) medication response, and therefore redressing the current trial-and-error approach to ADHD medication
Neuroimaging in Psychiatric Pharmacogenetics Research: The Promise and Pitfalls
Progress in efforts to incorporate neuroimaging into genetics and treatment research on major psychiatric disorders, such as schizophrenia, major depressive disorder, bipolar disorder, attention-deficit/hyperactivity disorder, and addiction is summarized.
Familiality and molecular genetics of attention networks in ADHD
  • K. Konrad, A. Dempfle, B. Herpertz-Dahlmann
  • Psychology, Biology
    American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
  • 2010
The data suggest that the quantitative behavioral ratings of inattentive symptoms might be more useful when searching for new genes associated with ADHD, however, among the ANT measures the executive attention network seems to be best suited for further endophenotype analyses.
Biomarkers and attention-deficit/hyperactivity disorder: a systematic review and meta-analyses.
Pharmacogenetic predictors of methylphenidate dose-response in attention-deficit/hyperactivity disorder.
The adrenergic receptor α-2A gene (ADRA2A) and neuropsychological executive functions as putative endophenotypes for childhood ADHD
Several EF measures showed association with ADRA2A, as well as moderation, but not mediation, of its association with ADHD, and implications for evaluating the validity and utility of putative endophenotype measures and for finding candidate gene effects on ADHD are discussed.
Norepinephrine Genes Predict Response Time Variability and Methylphenidate-Induced Changes in Neuropsychological Function in Attention Deficit Hyperactivity Disorder
The results add to a growing body of evidence, suggesting that response time variability is a viable endophenotype for ADHD and suggesting its utility as a surrogate end point for measuring stimulant response in pharmacogenetic studies.