Abstract
Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a multisystem disorder associated with multiple congenital anomalies, variable medical features, and neurodevelopmental differences resulting in diverse psychiatric phenotypes, including marked deficits in facial memory and social cognition. Neuroimaging in individuals with 22q11.2DS has revealed differences relative to matched controls in BOLD fMRI activation during facial affect processing tasks. However, time-varying interactions between brain areas during facial affect processing have not yet been studied with BOLD fMRI in 22q11.2DS. We applied constrained principal component analysis to identify temporally overlapping brain activation patterns from BOLD fMRI data acquired during an emotion identification task from 58 individuals with 22q11.2DS and 58 age-, race-, and sex-matched healthy controls. Delayed frontal-motor feedback signals were diminished in individuals with 22q11.2DS, as were delayed emotional memory signals engaging amygdala, hippocampus, and entorhinal cortex. Early task-related engagement of motor and visual cortices and salience-related insular activation were relatively preserved in 22q11.2DS. Insular activation was associated with task performance within the 22q11.2DS sample. Differences in cortical surface area, but not cortical thickness, showed spatial alignment with an activation pattern associated with face processing. These findings suggest that relative to matched controls, primary visual processing and insular function are relatively intact in individuals with 22q11.22DS, while motor feedback, face processing, and emotional memory processes are more affected. Such insights may help inform potential interventional targets and enhance the specificity of neuroimaging indices of cognitive dysfunction in 22q11.2DS.
Highlights
We used fMRIprep software [31] to perform brain extraction and Participants Emotion identification task fMRI data were obtained from a sample of 58 individuals with genotype-confirmed chromosome 22q11.2DS evaluated by the 22q and You Center at the Children’s Hospital of Philadelphia and the Philadelphia Neurodevelopmental Cohort (PNC) [28], a large community-based study of brain development
In the present study, we extracted five spatial patterns of taskevoked brain activity from individuals with 22q11.2DS and matched healthy controls (HCs). These activation patterns appeared to engage both “task-general” (PC1, PC2, and PC4) systems that are seen across many tasks, as well as “emotion-related” (PC3 and PC5) systems, which are engaged during facial affect processing tasks
Altered task-general brain dynamics in 22q11.2DS Of the three task-general components, we found that PC1 and PC4 were relatively preserved in 22q11.2DS
Summary
Chromosome 22q11.2 deletion syndrome (22q11.2DS) is a genetic neurodevelopmental disorder characterized by a submicroscopic deletion of the long arm of chromosome 22q [1], which causes a heterogeneous mix of cardiac, endocrine, palatal, immune, gastrointestinal, genitourinary, skeletal, and psychiatric abnormalities [1]. 22q11.2DS is one of the strongest genetic risk factors for psychosis, with over 25% prevalence of psychosis-spectrum symptoms in affected adults [2, 3], alongside comorbid autism spectrum, attention-deficit, anxiety, and mood symptoms [3, 4].Despite the range of neuropsychiatric symptoms in 22q11.2DS, this population is often studied in attempts to identify early structural and functional neuroimaging biomarkers of psychosis risk [2, 3, 5]. Widespread differences in rs-fMRI connectivity have been associated with psychosis symptoms in 22q11.2DS, encompassing frontoparietal areas, the default mode (DM) network, anterior cingulate cortex, fusiform cortex, inferior temporal cortex, and higher order visual areas [7,8,9]. These neuroimaging phenotypes are difficult to unify under a common mechanism for the emergence of psychosis. Neuroimaging studies have implicated early top-down inhibition from anterior cingulate cortex to the amygdala in facial
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