Dynamic Functional Connectivity: A New Perspective on 22q11.2 Deletion Syndrome and Psychosis

2019 ◽  
Vol 4 (10) ◽  
pp. 852-853
Author(s):  
J. Eric Schmitt
Keyword(s):  
Functional Connectivity ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Dynamic Functional Connectivity ◽  
New Perspective

scholarly journals Alterations in resting-state activity and functional connectivity in children with 22q11.2 deletion syndrome

2021 ◽  
Author(s):  
Joanne L Doherty ◽  
Adam C Cunningham ◽  
Samuel JRA Chawner ◽  
Hayley M Moss ◽  
Diana C Dima ◽  
...  
Keyword(s):  
Functional Connectivity ◽  
Resting State ◽  
Genetic Risk ◽  
Risk Group ◽  
22Q11.2 Deletion Syndrome ◽  
High Risk Group ◽  
Oscillatory Activity ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Band Activity

Background While genetic risk factors for psychiatric and neurodevelopmental disorders have been identified, the neurobiological route from genetic risk to neuropsychiatric outcome remains unclear. 22q11.2 deletion syndrome (22q11.2DS) is a copy number variant (CNV) syndrome associated with high rates of neurodevelopmental and psychiatric disorders including autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD) and schizophrenia. Alterations in neural integration and cortical connectivity have been linked to the spectrum of neuropsychiatric disorders seen in 22q11.2DS and may be a mechanism by which the CNV acts to increase risk. Despite this, few studies have investigated electrophysiological connectivity in this high-risk group. Studying children with 22q11.2DS provides a unique paradigm to identify brain markers of neurodevelopmental impairment and to relate these to underlying biology. Methods Magnetoencephalography (MEG) was used to investigate resting-state cortical oscillatory patterns in 34 children with 22q11.2DS and 25 controls aged 10-17 years old. Oscillatory activity and functional connectivity across six frequency bands were compared between groups. Regression analyses were used to explore the relationships between these measures, IQ and neurodevelopmental symptoms. Results Children with 22q11.2DS had atypical oscillatory activity and functional connectivity across multiple frequency bands (delta, beta and gamma bands). In the 22q11.2DS group, low frequency (alpha band) activity was negatively associated with cognitive ability and positively associated with ASD and ADHD symptoms. Frontal high frequency (gamma band) activity and connectivity were positively associated with ASD and ADHD symptoms, while posterior gamma activity was negatively associated with ASD symptoms. Conclusions These findings highlight that haploinsufficiency at the 22q11.2 locus alters both local and long-range cortical circuitry, which could be a mechanism underlying neurodevelopmental vulnerability in this high risk group.

scholarly journals Frontal dysconnectivity in 22q11.2 deletion syndrome: an atlas-based functional connectivity analysis

2018 ◽  
Vol 14 (1) ◽  
Author(s):  
Leah M. Mattiaccio ◽  
Ioana L. Coman ◽  
Carlie A. Thompson ◽  
Wanda P. Fremont ◽  
Kevin M. Antshel ◽  
...  
Keyword(s):  
Functional Connectivity ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
Connectivity Analysis ◽  
22Q11.2 Deletion ◽  
Functional Connectivity Analysis

Disentangling resting-state BOLD variability and PCC functional connectivity in 22q11.2 deletion syndrome

NeuroImage ◽  
2017 ◽  
Vol 149 ◽  
pp. 85-97 ◽  
Author(s):  
Daniela Zöller ◽  
Marie Schaer ◽  
Elisa Scariati ◽  
Maria Carmela Padula ◽  
Stephan Eliez ◽  
...  
Keyword(s):  
Functional Connectivity ◽  
Resting State ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion

scholarly journals Structural and functional connectivity in the default mode network in 22q11.2 deletion syndrome

2015 ◽  
Vol 7 (1) ◽  
Author(s):  
Maria Carmela Padula ◽  
Marie Schaer ◽  
Elisa Scariati ◽  
Maude Schneider ◽  
Dimitri Van De Ville ◽  
...  
Keyword(s):  
Functional Connectivity ◽  
Default Mode Network ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Default Mode

scholarly journals Reciprocal Disruptions in Thalamic and Hippocampal Resting-State Functional Connectivity in Youth with 22q11.2 Deletions

2017 ◽  
Author(s):  
Charles Schleifer ◽  
Amy Lin ◽  
Leila Kushan ◽  
Jie Lisa Ji ◽  
Genevieve Yang ◽  
...  
Keyword(s):  
High Risk ◽  
Functional Connectivity ◽  
Resting State ◽  
Large Scale ◽  
22Q11.2 Deletion Syndrome ◽  
Neuropsychiatric Disorders ◽  
Deletion Syndrome ◽  
Type I ◽  
Resting State Functional Connectivity ◽  
22Q11.2 Deletion

ABSTRACT22q11.2 deletion syndrome (22q11DS) is a recurrent copy number variant (CNV) with high penetrance for developmental neuropsychiatric disorders. Study of individuals with 22q11DS therefore may offer key insights into neural mechanisms underlying such complex illnesses. Resting-state functional MRI (rs-fMRI) studies in idiopathic schizophrenia have consistently revealed disruption of thalamic and hippocampal circuitry. Here, we sought to test whether this circuitry is similarly disrupted in the context of this genetic high-risk condition. To this end, resting-state functional connectivity patterns were assessed in a sample of young men and women with 22q11DS (n=42) and demographically matched healthy controls (n=39). Neuroimaging data were acquired via single-band protocols, and analyzed in line with methods provided by the Human Connectome Project (HCP). We computed functional relationships between individual-specific anatomically-defined thalamic and hippocampal seeds and all gray matter voxels in the brain. Whole-brain type I error protection was achieved through nonparametric permutation-based methods. 22q11DS patients displayed reciprocal disruptions in thalamic and hippocampal functional connectivity relative to control subjects. Thalamo-cortical coupling was increased in sensorimotor cortex, and reduced across associative networks. The opposite effect was observed for the hippocampus in regards to sensory and associative network connectivity. The thalamic and hippocampal dysconnectivity observed in 22q11DS suggest that high genetic risk for psychiatric illness is linked with disruptions in large-scale cortico-subcortical networks underlying higher-order cognitive functions. These effects highlight the translational importance of large-effect CNVs for informing mechanisms underlying neural disruptions observed in idiopathic developmental neuropsychiatric disorders.SIGNIFICANCE STATEMENTInvestigation of neuroimaging biomarkers in highly penetrant genetic syndromes represents a more biologically tractable approach to identify neural circuit disruptions underlying developmental neuropsychiatric conditions. 22q11.2 deletion syndrome confers particularly high risk for psychotic disorders, and is thus an important translational model in which to investigate systems-level mechanisms implicated in idiopathic illness. Here, we show resting-state fMRI evidence of large-scale sensory and executive network disruptions in youth with 22q11DS. In particular, this study provides the first evidence that these networks are disrupted in a reciprocal fashion with regard to the functional connectivity of the thalamus and hippocampus, suggesting circuit-level dysfunction.

Surgical Management of Patients With 22q11.2 Deletion Syndrome

2019 ◽  
Vol 4 (5) ◽  
pp. 857-869
Author(s):  
Oksana A. Jackson ◽  
Alison E. Kaye
Keyword(s):  
Surgical Management ◽  
Preoperative Evaluation ◽  
Preoperative Assessment ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Surgical Decision ◽  
Obstructive Sleep ◽  
Spine Abnormalities ◽  
Speech Assessment

Purpose The purpose of this tutorial was to describe the surgical management of palate-related abnormalities associated with 22q11.2 deletion syndrome. Craniofacial differences in 22q11.2 deletion syndrome may include overt or occult clefting of the palate and/or lip along with oropharyngeal variances that may lead to velopharyngeal dysfunction. This chapter will describe these circumstances, including incidence, diagnosis, and indications for surgical intervention. Speech assessment and imaging of the velopharyngeal system will be discussed as it relates to preoperative evaluation and surgical decision making. Important for patients with 22q11.2 deletion syndrome is appropriate preoperative screening to assess for internal carotid artery positioning, cervical spine abnormalities, and obstructive sleep apnea. Timing of surgery as well as different techniques, common complications, and outcomes will also be discussed. Conclusion Management of velopharyngeal dysfunction in patients with 22q11.2 deletion syndrome is challenging and requires thoughtful preoperative assessment and planning as well as a careful surgical technique.

Psychosocial Risks and Management for Children and Adolescents With 22q11.2 Deletion Syndrome

2019 ◽  
Vol 4 (4) ◽  
pp. 633-640 ◽  
Author(s):  
Canice E. Crerand ◽  
Ari N. Rabkin
Keyword(s):  
Cognitive Abilities ◽  
Psychotic Disorders ◽  
Developmental Stages ◽  
Early Adulthood ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Psychosocial Risks ◽  
Empirically Supported ◽  
Specific Education

Purpose This article reviews the psychosocial risks associated with 22q11.2 deletion syndrome, a relatively common genetic condition associated with a range of physical and psychiatric problems. Risks associated with developmental stages from infancy through adolescence and early adulthood are described, including developmental, learning, and intellectual disabilities as well as psychiatric disorders including anxiety, mood, and psychotic disorders. Other risks related to coping with health problems and related treatments are also detailed for both affected individuals and their families. Conclusion The article ends with strategies for addressing psychosocial risks including provision of condition-specific education, enhancement of social support, routine assessment of cognitive abilities, regular mental health screening, and referrals for empirically supported psychiatric and psychological treatments.

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