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Related Experiment Video

Updated: Feb 8, 2026

Rapid Detection of Neurodevelopmental Phenotypes in Human Neural Precursor Cells NPCs
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Imaging genetics in neurodevelopmental psychopathology.

Marieke Klein1, Marjolein van Donkelaar1, Ellen Verhoef2

  • 1Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Department of Human Genetics, Nijmegen, The Netherlands.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics
|July 10, 2018
PubMed
Summary

Imaging genetics studies link specific genes to brain changes in neurodevelopmental disorders like ADHD and ASD. While insights are emerging, more research is needed to understand shared genetic and brain mechanisms.

Keywords:
ADHDASDIDbrain imaging geneticsneurodevelopmental disorders

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Area of Science:

  • Neuroscience
  • Genetics
  • Psychiatry

Background:

  • Neurodevelopmental disorders, including ADHD, ASD, and ID, are highly heritable and often co-occur.
  • Understanding their etiology requires investigating the interplay between genetic factors and brain development.
  • Imaging genetics offers a powerful approach to link genetic variants to brain structure and function.

Purpose of the Study:

  • To review existing imaging genetics literature on ADHD, ASD, and ID.
  • To explore the role of specific genes in the brain mechanisms underlying these disorders.
  • To identify potential shared genetic and neural pathways contributing to their overlap.

Main Methods:

  • Literature review of imaging genetics studies focusing on candidate genes for ADHD, ASD, and ID.
  • Inclusion of studies on common variants for ADHD/ASD and rare variants for ID.
  • Analysis of findings from case-control studies and studies in healthy individuals with risk variants.

Main Results:

  • Identified key genes for ADHD (e.g., SLC6A3/DAT1, DRD4), ASD (e.g., CNTNAP2, OXTR), and ID (e.g., FMR1, MECP2).
  • Observed alterations in brain volume, activity, and connectivity associated with these genes.
  • Noted consistent findings for genes like SLC6A4/5HTT in emotion regulation-related brain activity and connectivity.

Conclusions:

  • Imaging genetics provides valuable insights into the gene-brain-behavior relationships in neurodevelopmental disorders.
  • Despite some consistent findings, the field is nascent, with limitations such as small sample sizes.
  • Further research is necessary to establish definitive shared mechanisms across these disorders.