A Mini Review on the Contribution of the Anterior Cingulate Cortex in the Risk of Psychosis in 22q11.2 Deletion Syndrome

Overview

Journal Front Psychiatry

Specialty Psychiatry

Date 2018 Sep 4

PMID 30174623

Citations 6

Authors

Maria C Padula

Elisa Scariati

Marie Schaer

Stephan Eliez

Affiliations

Soon will be listed here.

Abstract

22q11.2 deletion syndrome (22q11DS) is a neurogenetic disorder that causes a high risk of developing schizophrenia, thus representing a unique model for the investigation of biomarkers of psychosis. Cognitive and clinical risk factors have been identified as reliable predictors of schizophrenia in patients with 22q11DS and are currently used in the clinical practice. However, biomarkers based on neuroimaging are still lacking, mainly because of the analytic approaches adopted so far, which are almost uniquely based on the comparison of 22q11DS patients with healthy controls. Such comparisons do not take into account the heterogeneity within patients with 22q11DS, who indeed show various clinical manifestations. More recently, a number of studies compared measures of brain morphology and connectivity between patients with 22q11DS with different symptomatic profiles. The aim of this short review is to highlight the brain alterations found in patients with 22q11DS fulfilling ultra-high risk (UHR) criteria. Findings point to alterations in brain morphology and connectivity in frontal brain regions, and in particular in the anterior cingulate cortex, in patients with 22q11DS presenting UHR symptoms. These alterations may represent valuable biomarkers of psychosis in 22q11DS.

Citing Articles

Molecular and immunological origins of catatonia.

Beach S, Luccarelli J, Praschan N, Fusunyan M, Fricchione G Schizophr Res. 2023; 263:169-177.

PMID: 36966063 PMC: 10517087. DOI: 10.1016/j.schres.2023.03.013.

Opposing white matter microstructure abnormalities in 22q11.2 deletion and duplication carriers.

Seitz-Holland J, Lyons M, Kushan L, Lin A, Villalon-Reina J, Cho K Transl Psychiatry. 2021; 11(1):580.

PMID: 34759270 PMC: 8581007. DOI: 10.1038/s41398-021-01703-1.

Pathways to understanding psychosis through rare - 22q11.2DS - and common variants.

Gur R, Roalf D, Alexander-Bloch A, McDonald-McGinn D, Gur R Curr Opin Genet Dev. 2021; 68:35-40.

PMID: 33571729 PMC: 8728946. DOI: 10.1016/j.gde.2021.01.007.

Structural control energy of resting-state functional brain states reveals less cost-effective brain dynamics in psychosis vulnerability.

Zoller D, Sandini C, Schaer M, Eliez S, Bassett D, Van De Ville D Hum Brain Mapp. 2021; 42(7):2181-2200.

PMID: 33566395 PMC: 8046160. DOI: 10.1002/hbm.25358.

Neuroimaging Phenotypes Associated With Risk and Resilience for Psychosis and Autism Spectrum Disorders in 22q11.2 Microdeletion Syndrome.

Jalbrzikowski M Biol Psychiatry Cogn Neurosci Neuroimaging. 2020; 6(2):211-224.

PMID: 33218931 PMC: 10234143. DOI: 10.1016/j.bpsc.2020.08.015.

References

Fornito A, Yucel M, Dean B, Wood S, Pantelis C . Anatomical abnormalities of the anterior cingulate cortex in schizophrenia: bridging the gap between neuroimaging and neuropathology. Schizophr Bull. 2008; 35(5):973-93. PMC: 2728810. DOI: 10.1093/schbul/sbn025. View

. Biomarkers and surrogate endpoints: preferred definitions and conceptual framework. Clin Pharmacol Ther. 2001; 69(3):89-95. DOI: 10.1067/mcp.2001.113989. View

Sandini C, Scariati E, Padula M, Schneider M, Schaer M, Van De Ville D . Cortical Dysconnectivity Measured by Structural Covariance Is Associated With the Presence of Psychotic Symptoms in 22q11.2 Deletion Syndrome. Biol Psychiatry Cogn Neurosci Neuroimaging. 2018; 3(5):433-442. DOI: 10.1016/j.bpsc.2017.04.008. View

Ramanathan S, Mattiaccio L, Coman I, Botti J, Fremont W, Faraone S . Longitudinal trajectories of cortical thickness as a biomarker for psychosis in individuals with 22q11.2 deletion syndrome. Schizophr Res. 2016; 188:35-41. DOI: 10.1016/j.schres.2016.11.041. View

Schaer M, Debbane M, Cuadra M, Ottet M, Glaser B, Thiran J . Deviant trajectories of cortical maturation in 22q11.2 deletion syndrome (22q11DS): a cross-sectional and longitudinal study. Schizophr Res. 2009; 115(2-3):182-90. DOI: 10.1016/j.schres.2009.09.016. View

Schreiner M, Forsyth J, Karlsgodt K, Anderson A, Hirsh N, Kushan L . Intrinsic Connectivity Network-Based Classification and Detection of Psychotic Symptoms in Youth With 22q11.2 Deletions. Cereb Cortex. 2017; 27(6):3294-3306. PMC: 6059149. DOI: 10.1093/cercor/bhx076. View

Dufour F, Schaer M, Debbane M, Farhoumand R, Glaser B, Eliez S . Cingulate gyral reductions are related to low executive functioning and psychotic symptoms in 22q 11.2 deletion syndrome. Neuropsychologia. 2008; 46(12):2986-92. DOI: 10.1016/j.neuropsychologia.2008.06.012. View

Padula M, Scariati E, Schaer M, Sandini C, Ottet M, Schneider M . Altered structural network architecture is predictive of the presence of psychotic symptoms in patients with 22q11.2 deletion syndrome. Neuroimage Clin. 2017; 16:142-150. PMC: 5540832. DOI: 10.1016/j.nicl.2017.07.023. View

Allen P, Laroi F, McGuire P, Aleman A . The hallucinating brain: a review of structural and functional neuroimaging studies of hallucinations. Neurosci Biobehav Rev. 2007; 32(1):175-91. DOI: 10.1016/j.neubiorev.2007.07.012. View

10.

Zoller D, Padula M, Sandini C, Schneider M, Scariati E, Van De Ville D . Psychotic symptoms influence the development of anterior cingulate BOLD variability in 22q11.2 deletion syndrome. Schizophr Res. 2017; 193:319-328. DOI: 10.1016/j.schres.2017.08.003. View

11.

Bassett A, Chow E, Abdelmalik P, Gheorghiu M, Husted J, Weksberg R . The schizophrenia phenotype in 22q11 deletion syndrome. Am J Psychiatry. 2003; 160(9):1580-6. PMC: 3276594. DOI: 10.1176/appi.ajp.160.9.1580. View

12.

Midbari Kufert Y, Nachmani A, Nativ E, Weizman A, Gothelf D . Association between prematurity and the evolution of psychotic disorders in 22q11.2 deletion syndrome. J Neural Transm (Vienna). 2016; 123(12):1491-1497. DOI: 10.1007/s00702-016-1607-5. View

13.

Brune M, Schobel A, Karau R, Benali A, Faustmann P, Juckel G . Von Economo neuron density in the anterior cingulate cortex is reduced in early onset schizophrenia. Acta Neuropathol. 2010; 119(6):771-8. DOI: 10.1007/s00401-010-0673-2. View

14.

Bush , Luu , Posner . Cognitive and emotional influences in anterior cingulate cortex. Trends Cogn Sci. 2000; 4(6):215-222. DOI: 10.1016/s1364-6613(00)01483-2. View

15.

Mihailov A, Padula M, Scariati E, Schaer M, Schneider M, Eliez S . Morphological brain changes associated with negative symptoms in patients with 22q11.2 Deletion Syndrome. Schizophr Res. 2017; 188:52-58. DOI: 10.1016/j.schres.2017.01.031. View

16.

Scariati E, Padula M, Schaer M, Eliez S . Long-range dysconnectivity in frontal and midline structures is associated to psychosis in 22q11.2 deletion syndrome. J Neural Transm (Vienna). 2016; 123(8):823-39. DOI: 10.1007/s00702-016-1548-z. View

17.

Van L, Butcher N, Costain G, Ogura L, Chow E, Bassett A . Fetal growth and gestational factors as predictors of schizophrenia in 22q11.2 deletion syndrome. Genet Med. 2015; 18(4):350-5. DOI: 10.1038/gim.2015.84. View

18.

Fornito A, Yung A, Wood S, Phillips L, Nelson B, Cotton S . Anatomic abnormalities of the anterior cingulate cortex before psychosis onset: an MRI study of ultra-high-risk individuals. Biol Psychiatry. 2008; 64(9):758-65. DOI: 10.1016/j.biopsych.2008.05.032. View

19.

Murphy K, Jones L, Owen M . High rates of schizophrenia in adults with velo-cardio-facial syndrome. Arch Gen Psychiatry. 1999; 56(10):940-5. DOI: 10.1001/archpsyc.56.10.940. View

20.

Frith C, Friston K, Liddle P, Frackowiak R . PET imaging and cognition in schizophrenia. J R Soc Med. 1992; 85(4):222-4. PMC: 1294729. DOI: 10.1177/014107689208500414. View