The choroid plexus in individuals with the 22q11.2 deletion syndrome with and without psychosis spectrum symptoms: An exploratory study

Simone Veale, BA

Brigham and Women’s Hospital – Research Assistant

Scientific Abstract

Background: The choroid plexus (CP) is an essential physiological barrier between the brain and periphery that modulates the central immune response and produces cerebrospinal fluid. In schizophrenia, the volume of the CP is increased and related to the lateral ventricle volume. The 22q11.2 Deletion Syndrome (22q11DS) is a strong genetic risk factor for schizophrenia, with a 30% risk for developing the illness in adulthood. Thus, it represents a genetic model for schizophrenia. Here, we explored the volumes of CP, its associations to lateral ventricles and global functioning in a cohort of people with 22q11DS, with and without psychosis spectrum symptoms (PSS), from the ENIGMA 22q11DS Working Group.

Methods: CP and lateral ventricular volumes were measured using FreeSurfer data from 102 individuals with 22q11DS with PSS (22q11DS+PSS), 140 individuals with 22q11DS without PSS (22q11DS-PSS), and 122 healthy controls (HC)(15.92+6.46 years of age; 50.3% female). Volumes were corrected for intracranial volume (ICV) and used for group comparisons (age, sex, scanner site, and total lateral ventricular volume as covariates). Spearman correlations between volumes and Global Assessment of Functioning (GAF) were performed in each group. False Discovery Rate (FDR) was used to correct for multiple comparisons.

Results: CP volumes were significantly increased in 22q11DS+PSS and 22q11DS-PSS compared to HC (F(4,708) = 3.099, p = 0.017). CP volume correlated significantly with lateral ventricular volume in 22q11DS+PSS (r = 0.420, p < 0.001, FDR < 0.001) and 22q11DS-PSS (r = 0.340, p < 0.001, FDR < 0.001), but not in HC (r = 0.149, p = 0.101, FDR = n.s.). In HC only, CP volume correlated inversely with GAF (r = -0.241, p = 0.021, FDR = 0.023), suggesting that smaller CP volumes were associated with better global functioning.

Conclusion: To our best knowledge, this is the first study investigating the CP volume in individuals with 22q11DS. The results suggest the role of CP in 22q11DS independent of psychosis spectrum symptoms. This poses an exciting target for future research into the role of the CP for neurodevelopmental conditions beyond schizophrenia.

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research Areas


Simone Veale, BA, Carina Heller, MS, Johanna Seitz-Holland, MD, PhD, Holly Carrington, BA, Christopher R. K. Ching, PhD, Leila Kushan, MS, Maria Jalbrzikowski, PhD, Maria Gudbrandsen, PhD, Declan Murphy, MD, Eileen Daly, PhD, Michael Craig, PhD, Kevin Antshel, PhD, Wanda Fremont, MD, Wendy R. Kates, PhD, Marek R. Kubicki, MD, PhD, Carrie E. Bearden, PhD, Zora Kikinis, PhD

Principal Investigator

Zora Kikinis, PhD