Progress and roadblocks in the search for brain-based biomarkers of autism and attention-deficit/hyperactivity disorder

Transl Psychiatry. 2017 Aug 22;7(8):e1218. doi: 10.1038/tp.2017.164.

Abstract

Children with neurodevelopmental disorders benefit most from early interventions and treatments. The development and validation of brain-based biomarkers to aid in objective diagnosis can facilitate this important clinical aim. The objective of this review is to provide an overview of current progress in the use of neuroimaging to identify brain-based biomarkers for autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD), two prevalent neurodevelopmental disorders. We summarize empirical work that has laid the foundation for using neuroimaging to objectively quantify brain structure and function in ways that are beginning to be used in biomarker development, noting limitations of the data currently available. The most successful machine learning methods that have been developed and applied to date are discussed. Overall, there is increasing evidence that specific features (for example, functional connectivity, gray matter volume) of brain regions comprising the salience and default mode networks can be used to discriminate ASD from typical development. Brain regions contributing to successful discrimination of ADHD from typical development appear to be more widespread, however there is initial evidence that features derived from frontal and cerebellar regions are most informative for classification. The identification of brain-based biomarkers for ASD and ADHD could potentially assist in objective diagnosis, monitoring of treatment response and prediction of outcomes for children with these neurodevelopmental disorders. At present, however, the field has yet to identify reliable and reproducible biomarkers for these disorders, and must address issues related to clinical heterogeneity, methodological standardization and cross-site validation before further progress can be achieved.

Publication types

  • Review
  • Research Support, Non-U.S. Gov't
  • Research Support, N.I.H., Extramural

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Attention Deficit Disorder with Hyperactivity / diagnosis
  • Attention Deficit Disorder with Hyperactivity / metabolism*
  • Attention Deficit Disorder with Hyperactivity / physiopathology
  • Autism Spectrum Disorder / diagnosis
  • Autism Spectrum Disorder / metabolism*
  • Autism Spectrum Disorder / physiopathology
  • Autistic Disorder / diagnosis
  • Autistic Disorder / metabolism*
  • Autistic Disorder / physiopathology
  • Biomarkers / metabolism*
  • Brain / diagnostic imaging*
  • Brain / metabolism
  • Brain Mapping
  • Child, Preschool
  • Female
  • Humans
  • Infant
  • Magnetic Resonance Imaging / methods
  • Male
  • Middle Aged
  • Neurodevelopmental Disorders / diagnosis
  • Neurodevelopmental Disorders / metabolism
  • Neurodevelopmental Disorders / physiopathology
  • Neuroimaging / methods*
  • Young Adult

Substances

  • Biomarkers