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Peer-reviewedCC BYTranslational psychiatry

Aberrant cerebrovascular reactivity presents as an early biomarker of psychosis susceptibility in patients with 22q11.2DS.

  • Farnaz Delavari1,2,3
  • Stefano Moia4
  • Silas Forrer5,4,6
  • Corrado Sandini5,6,7
  • Nada Kojovic5,6,8
  • Alessandro Pascucci5,6
  • Clémence Lacour5
  • Stephan Eliez5,6,7,9
  • Dimitri Van De Ville4,10
10 affiliations
  1. 1Developmental Imaging and Psychopathology Laboratory, University of Geneva School of Medicine, Geneva, Switzerland. [email protected].
  2. 2Neuro-X Institute, École Polytechnique Fédérale de Lausanne, Geneva, Switzerland. [email protected].
  3. 3Radiology Department, Lausanne University Hospital (CHUV) and University of Lausanne (UNIL), Lausanne, Switzerland. [email protected].
  4. 4Neuro-X Institute, École Polytechnique Fédérale de Lausanne, Geneva, Switzerland.
  5. 5Developmental Imaging and Psychopathology Laboratory, University of Geneva School of Medicine, Geneva, Switzerland.
  6. 6Fondation Pôle Autisme, Geneva, Switzerland.
  7. 7Psychiatry Department, Faculty of Medicine, University of Geneva, Geneva, Switzerland.
  8. 8Autism Brain and Behavior Lab, Faculty of Medicine, University of Geneva, Geneva, Switzerland.
  9. 9Department of Genetic Medicine and Development, University of Geneva School of Medicine, Geneva, Switzerland.
  10. 10Department of Radiology and Medical Informatics, University of Geneva (UNIGE), Geneva, Switzerland.
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Abstract

The brain's ability to regulate blood flow is fundamental to both its function and development. In the context of neurodevelopmental disorders such as schizophrenia, understanding the complex interactions between cerebrovascular health and brain function is crucial for unraveling the pathophysiology of psychosis. This study investigates the developmental trajectory of cerebrovascular reactivity (CVR) in 22q11 deletion syndrome (22q11.2DS) compared to healthy controls, and its association with psychosis susceptibility. Using one of the largest longitudinal data-set of resting-state fMRI, we mapped for the first time voxel-level CVR across development. We found an early reduction in CVR in 22q11.2DS, and in particular in those who later developed positive psychotic symptoms (PPS + ). These reductions were evident within the anterior cingulate cortex, frontal lobes, and globi pallidi (GP). We propose that the pattern of CVR alterations presenting early during childhood is possibly linked to altered blood-brain barrier integrity or permeability, potentially involving endothelial or tight-junction dysfunction; however, BBB integrity was not directly measured in this study. A decrease in CVR during childhood and within the frontal regions and GP was predictive of subsequent development of positive psychotic symptoms), which often occurs during adolescence in 22q11.2DS patients. These findings suggest that cerebrovascular health is critical for normal brain development, particularly in regions like the striatum, which are vulnerable to vascular damage due to their anatomical features. These results underline the potential of CVR as an early biomarker for psychosis vulnerability, emphasizing the need for targeted interventions to mitigate neurodevelopmental disruptions of cerebrovascular health in 22q11.2DS.

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Cite

BibTeXRIS
BibTeX
@article{delavari2026aberrant,
  title = {{Aberrant cerebrovascular reactivity presents as an early biomarker of psychosis susceptibility in patients with 22q11.2DS.}},
  author = {Farnaz Delavari and Stefano Moia and Silas Forrer and Corrado Sandini and Nada Kojovic and Alessandro Pascucci and Clémence Lacour and Stephan Eliez and Dimitri Van De Ville},
  journal = {Translational psychiatry},
  year = {2026},
  month = aug,
  doi = {10.1038/s41398-026-04382-y},
  url = {https://europepmc.org/article/MED/43009478},
  note = {CC BY},
}
RIS
TY  - JOUR
TI  - Aberrant cerebrovascular reactivity presents as an early biomarker of psychosis susceptibility in patients with 22q11.2DS.
AU  - Farnaz Delavari
AU  - Stefano Moia
AU  - Silas Forrer
AU  - Corrado Sandini
AU  - Nada Kojovic
AU  - Alessandro Pascucci
AU  - Clémence Lacour
AU  - Stephan Eliez
AU  - Dimitri Van De Ville
PY  - 2026
DA  - 2026/08/14
JO  - Translational psychiatry
DO  - 10.1038/s41398-026-04382-y
UR  - https://europepmc.org/article/MED/43009478
AB  - The brain's ability to regulate blood flow is fundamental to both its function and development. In the context of neurodevelopmental disorders such as schizophrenia, understanding the complex interactions between cerebrovascular health and brain function is crucial for unraveling the pathophysiology of psychosis. This study investigates the developmental trajectory of cerebrovascular reactivity (CVR) in 22q11 deletion syndrome (22q11.2DS) compared to healthy controls, and its association with psychosis susceptibility. Using one of the largest longitudinal data-set of resting-state fMRI, we mapped for the first time voxel-level CVR across development. We found an early reduction in CVR in 22q11.2DS, and in particular in those who later developed positive psychotic symptoms (PPS + ). These reductions were evident within the anterior cingulate cortex, frontal lobes, and globi pallidi (GP). We propose that the pattern of CVR alterations presenting early during childhood is possibly linked to altered blood-brain barrier integrity or permeability, potentially involving endothelial or tight-junction dysfunction; however, BBB integrity was not directly measured in this study. A decrease in CVR during childhood and within the frontal regions and GP was predictive of subsequent development of positive psychotic symptoms), which often occurs during adolescence in 22q11.2DS patients. These findings suggest that cerebrovascular health is critical for normal brain development, particularly in regions like the striatum, which are vulnerable to vascular damage due to their anatomical features. These results underline the potential of CVR as an early biomarker for psychosis vulnerability, emphasizing the need for targeted interventions to mitigate neurodevelopmental disruptions of cerebrovascular health in 22q11.2DS.
SN  - 2158-3188
ER  -