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

Front Psychiatry

Developmental Imaging and Psychopathology Laboratory, Office Médico-Pédagogique, Department of Psychiatry, University of Geneva, Geneva, Switzerland.

Published: August 2018

AI Article Synopsis

  • 22q11.2 deletion syndrome (22q11DS) is a neurogenetic disorder linked to a greater risk of schizophrenia, making it a model for studying psychosis biomarkers.
  • Reliable cognitive and clinical predictors of schizophrenia have been identified in 22q11DS patients, but neuroimaging biomarkers are limited due to focusing mainly on comparisons with healthy individuals and not accounting for patient heterogeneity.
  • Recent studies reveal that patients with 22q11DS showing ultra-high risk (UHR) symptoms have specific alterations in brain morphology and connectivity, particularly in frontal regions like the anterior cingulate cortex, which could serve as potential biomarkers for psychosis.

Article 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.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6107828PMC
http://dx.doi.org/10.3389/fpsyt.2018.00372DOI Listing

Publication Analysis

Top Keywords

patients 22q11ds
20
anterior cingulate
8
cingulate cortex
8
22q112 deletion
8
deletion syndrome
8
22q11ds
8
biomarkers psychosis
8
brain morphology
8
morphology connectivity
8
patients
6

Similar Publications

Article Synopsis
  • Chromosome 22q11.2 deletion syndrome (22q11DS) is a common genetic condition often identified in infants, but many cases are diagnosed later in life, especially during adolescence and adulthood.
  • A study analyzed patients diagnosed after age 13 from 2010-2021 in Melbourne, revealing key clinical features like intellectual disability, hypocalcaemia, and facial dysmorphism in late-diagnosed individuals, while traditional signs like cardiac defects may be absent in adults.
  • The findings emphasize the condition's complex and varied symptoms, highlighting the need for awareness of atypical presentations to reduce underdiagnosis.
View Article and Find Full Text PDF

Paragangliomas and syringomyelia in Tetralogy of Fallot-A case report and literature review.

Clin Case Rep

October 2024

Department of Otorhinolaryngology 3rd Faculty of Medicine and University Hospital Kralovske Vinohrady, Charles University Prague Czech Republic.

Pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries, paragangliomas, and syringomyelia are uncommon diseases. Furthermore, in the absence of any genetic link and with less than five reported adult patients surviving unrepaired rare form of Tetralogy of Fallot, our case shows noteworthiness. The possibility of definitive treatment of these conditions is rendered unsafe due to this persistent defect.

View Article and Find Full Text PDF
Article Synopsis
  • The researchers developed a new method called CRISPR/Cas9-targeted long-read sequencing (CTLR-Seq) to analyze complex regions of the human genome that traditional sequencing couldn't handle, especially large segmental duplications (SegDups) and their related rearrangements.
  • CTLR-Seq uses a combination of Cas9 cutting and specialized gel techniques to isolate large genomic regions, enabling high-quality long-read sequencing for complete assembly of these previously elusive sequences.
  • This method was applied to the 22q11.2 Deletion Syndrome, allowing the team to map out significant genomic rearrangements with high variability linked to transposons and discover cell-type-specific interactions and DNA methylation patterns in patient-derived cells.
View Article and Find Full Text PDF

Computer-vision analysis of craniofacial dysmorphology in 22q11.2 deletion syndrome and psychosis spectrum disorders.

J Neurodev Disord

June 2024

Brain Behavior Laboratory, Department of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.

Background: Minor physical anomalies (MPAs) are congenital morphological abnormalities linked to disruptions of fetal development. MPAs are common in 22q11.2 deletion syndrome (22q11DS) and psychosis spectrum disorders (PS) and likely represent a disruption of early embryologic development that may help identify overlapping mechanisms linked to psychosis in these disorders.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!