Brain Coupling May Predict Psychosis

Summary: Individuals with the 22q11.2DS genetic deletion show unique patterns of brain activity and structure, which could predict their risk of psychosis. By studying brain “coupling” from childhood to adulthood, scientists discovered discrepancies in brain regions linked to schizophrenia.

These findings pave the way for identifying reliable markers for psychosis risk, aiding early diagnosis and intervention. The research highlights the importance of understanding brain structure and function in psychiatric disorders.
22q11.2DS microdeletion is linked to a high risk of developing schizophrenia.
Brain “coupling” differences in 22q11.2DS individuals can indicate psychosis risk.
Study combines brain structure and function analysis for predictive markers.
Source: University of Geneva

Microdeletion of the 22q11.2DS gene is the most common genetic deletion. It affects one person in 2000 and results in the absence of a small DNA sequence on chromosome 22. It can lead to heart defects and immune dysfunction, but also psychotic disorders in adolescence or adulthood in 35% of carriers.
At UNIGE, the team led by Stéphan Eliez, a full professor in the Department of Psychiatry and at the Synapsy Centre for Neuroscience and Mental Health Research in the Faculty of Medicine, has been following a cohort of 300 individuals aged between 5 and 34 affected by this microdeletion for twenty years.

Almost 40% of them have developed schizophrenia. Because of its size and longevity, this Geneva cohort is a unique case study in the world and has led to the publication of numerous articles.

Atypical brain development starting in childhood‘‘We wanted to find out whether, in individuals with the 22q11.2DS anomaly, less efficient coupling was synonymous with an increased risk of developing psychosis.’’

This brain ‘‘synchronisation’’, and especially its optimisation, develops during adolescence and into adulthood. Using magnetic resonance imaging techniques, the neuroscientists observed its maturation over a period of twelve years within the cohort and a control group.

‘‘We found that patients with the microdeletion had a persistent developmental discrepancy since childhood, with regions of hyper- and hypo-coupling throughout the brain,’’ says Silas Forrer.

This discrepancy is particularly marked in adolescence in three brain regions in ‘‘22q11.2DS’’ individuals who have developed schizophrenia: the frontal cortex, responsible for voluntary motor coordination and language; the cingulate cortex, at the interface between the two hemispheres of the brain, responsible for making certain decisions; and the temporal cortex, responsible for somato-sensory functions. There is hypo-coupling in the first two and hyper-coupling in the third.



Towards identifying a reliable marker

This strong correlation between developmental discrepancy and microdeletion of the 22q11.2DS gene is a significant step towards identifying predictive markers for the disease.

‘‘The next step will be