Association of Human Supragranular Enriched Gene Expression With Cortical Thickness Patterns in 22q11.2 Deletion Syndrome

2020 ◽  
Vol 87 (9) ◽  
pp. S366
Author(s):  
Gil Hoftman ◽  
Jennifer Forsyth ◽  
Eva Mennigen ◽  
Amy Lin ◽  
Daqiang Sun ◽  
...  
Keyword(s):  
Gene Expression ◽  
Cortical Thickness ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion

Differential gene expression in the hippocampus of the Df1/+ mice: A model for 22q11.2 deletion syndrome and schizophrenia

2007 ◽  
Vol 1139 ◽  
pp. 48-59 ◽  
Author(s):  
Sinthuja Sivagnanasundaram ◽  
Danielle Fletcher ◽  
Mike Hubank ◽  
Elizabeth Illingworth ◽  
David Skuse ◽  
...  
Keyword(s):  
Gene Expression ◽  
Differential Gene Expression ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Differential Gene

scholarly journals Single cell multi-omic analysis identifies a Tbx1-dependent multilineage primed population in murine cardiopharyngeal mesoderm

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Hiroko Nomaru ◽  
Yang Liu ◽  
Christopher De Bono ◽  
Dario Righelli ◽  
Andrea Cirino ◽  
...  
Keyword(s):  
Gene Expression ◽  
Single Cell ◽  
22Q11.2 Deletion Syndrome ◽  
Chromatin Accessibility ◽  
Deletion Syndrome ◽  
Congenital Defects ◽  
22Q11.2 Deletion ◽  
T Box ◽  
Pharyngeal Apparatus ◽  
The Face

AbstractThe poles of the heart and branchiomeric muscles of the face and neck are formed from the cardiopharyngeal mesoderm within the pharyngeal apparatus. They are disrupted in patients with 22q11.2 deletion syndrome, due to haploinsufficiency of TBX1, encoding a T-box transcription factor. Here, using single cell RNA-sequencing, we now identify a multilineage primed population within the cardiopharyngeal mesoderm, marked by Tbx1, which has bipotent properties to form cardiac and branchiomeric muscle cells. The multilineage primed cells are localized within the nascent mesoderm of the caudal lateral pharyngeal apparatus and provide a continuous source of cardiopharyngeal mesoderm progenitors. Tbx1 regulates the maturation of multilineage primed progenitor cells to cardiopharyngeal mesoderm derivatives while restricting ectopic non-mesodermal gene expression. We further show that TBX1 confers this balance of gene expression by direct and indirect regulation of enriched genes in multilineage primed progenitors and downstream pathways, partly through altering chromatin accessibility, the perturbation of which can lead to congenital defects in individuals with 22q11.2 deletion syndrome.

scholarly journals Altered cortical thickness development in 22q11.2 deletion syndrome and association with psychotic symptoms

2020 ◽  
Author(s):  
Joëlle Bagautdinova ◽  
Daniela Zöller ◽  
Marie Schaer ◽  
Maria Carmela Padula ◽  
Valentina Mancini ◽  
...  
Keyword(s):  
Cortical Thickness ◽  
Mixed Model ◽  
Superior Temporal Gyrus ◽  
22Q11.2 Deletion Syndrome ◽  
Structural Mri ◽  
Brain Maturation ◽  
Deletion Syndrome ◽  
Psychotic Symptoms ◽  
22Q11.2 Deletion ◽  
Cortical Thinning

AbstractSchizophrenia has been extensively associated with reduced cortical thickness (CT), and its neurodevelopmental origin is increasingly acknowledged. However, the exact timing and extent of alterations occurring in preclinical phases remain unclear. With a high prevalence of psychosis, 22q11.2 deletion syndrome (22q11DS) is a neurogenetic disorder that represents a unique opportunity to examine brain maturation in high-risk individuals. In this study, we quantified trajectories of CT maturation in 22q11DS and examined the association of CT development with the emergence of psychotic symptoms. Longitudinal structural MRI data with 1-6 time points were collected from 324 participants aged 5-35 years (N=148 22q11DS, N=176 controls), resulting in a total of 636 scans (N=334 22q11DS, N=302 controls). Mixed model regression analyses were used to compare CT trajectories between participants with 22q11DS and controls. Further, CT trajectories were compared between participants with 22q11DS who developed (N=61, 146 scans), or remained exempt of (N=47; 98 scans) positive psychotic symptoms during development. Compared to controls, participants with 22q11DS showed widespread increased CT, focal reductions in the posterior cingulate gyrus and superior temporal gyrus (STG), and accelerated cortical thinning during adolescence, mainly in fronto-temporal regions. Within 22q11DS, individuals who developed psychotic symptoms showed exacerbated cortical thinning in the right STG. Together, these findings suggest that genetic predisposition for psychosis is associated with increased CT starting from childhood and altered maturational trajectories of CT during adolescence, affecting predominantly fronto-temporal regions. In addition, accelerated thinning in the STG may represent an early biomarker associated with the emergence of psychotic symptoms.

Longitudinal trajectories of cortical thickness as a biomarker for psychosis in individuals with 22q11.2 deletion syndrome

2017 ◽  
Vol 188 ◽  
pp. 35-41 ◽  
Author(s):  
Seetha Ramanathan ◽  
Leah M. Mattiaccio ◽  
Ioana L. Coman ◽  
Jo-Anna C. Botti ◽  
Wanda Fremont ◽  
...  
Keyword(s):  
Cortical Thickness ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Longitudinal Trajectories

scholarly journals Altered cortical thickness development in 22q11.2 deletion syndrome and association with psychotic symptoms

2021 ◽  
Author(s):  
Joëlle Bagautdinova ◽  
Daniela Zöller ◽  
Marie Schaer ◽  
Maria Carmela Padula ◽  
Valentina Mancini ◽  
...  
Keyword(s):  
Cortical Thickness ◽  
Mixed Model ◽  
Superior Temporal Gyrus ◽  
22Q11.2 Deletion Syndrome ◽  
Structural Mri ◽  
Brain Maturation ◽  
Deletion Syndrome ◽  
Psychotic Symptoms ◽  
22Q11.2 Deletion ◽  
Cortical Thinning

AbstractSchizophrenia has been extensively associated with reduced cortical thickness (CT), and its neurodevelopmental origin is increasingly acknowledged. However, the exact timing and extent of alterations occurring in preclinical phases remain unclear. With a high prevalence of psychosis, 22q11.2 deletion syndrome (22q11DS) is a neurogenetic disorder that represents a unique opportunity to examine brain maturation in high-risk individuals. In this study, we quantified trajectories of CT maturation in 22q11DS and examined the association of CT development with the emergence of psychotic symptoms. Longitudinal structural MRI data with 1–6 time points were collected from 324 participants aged 5–35 years (N = 148 22q11DS, N = 176 controls), resulting in a total of 636 scans (N = 334 22q11DS, N = 302 controls). Mixed model regression analyses were used to compare CT trajectories between participants with 22q11DS and controls. Further, CT trajectories were compared between participants with 22q11DS who developed (N = 61, 146 scans), or remained exempt of (N = 47; 98 scans) positive psychotic symptoms during development. Compared to controls, participants with 22q11DS showed widespread increased CT, focal reductions in the posterior cingulate gyrus and superior temporal gyrus (STG), and accelerated cortical thinning during adolescence, mainly in frontotemporal regions. Within 22q11DS, individuals who developed psychotic symptoms showed exacerbated cortical thinning in the right STG. Together, these findings suggest that genetic predisposition for psychosis is associated with increased CT starting from childhood and altered maturational trajectories of CT during adolescence, affecting predominantly frontotemporal regions. In addition, accelerated thinning in the STG may represent an early biomarker associated with the emergence of psychotic symptoms.

scholarly journals Brain morphometry in 22q11.2 deletion syndrome: an exploration of differences in cortical thickness, surface area, and their contribution to cortical volume

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
M. Gudbrandsen ◽  
E. Daly ◽  
C. M. Murphy ◽  
C. E. Blackmore ◽  
M. Rogdaki ◽  
...  
Keyword(s):  
Surface Area ◽  
Cortical Thickness ◽  
Neuropsychiatric Symptoms ◽  
22Q11.2 Deletion Syndrome ◽  
Structural Mri ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Cortical Volume ◽  
Brain Morphometry ◽  
Relative Contribution

Abstract 22q11.2 Deletion Syndrome (22q11.2DS) is the most common microdeletion in humans, with a heterogenous clinical presentation including medical, behavioural and psychiatric conditions. Previous neuroimaging studies examining the neuroanatomical underpinnings of 22q11.2DS show alterations in cortical volume (CV), cortical thickness (CT) and surface area (SA). The aim of this study was to identify (1) the spatially distributed networks of differences in CT and SA in 22q11.2DS compared to controls, (2) their unique and spatial overlap, as well as (3) their relative contribution to observed differences in CV. Structural MRI scans were obtained from 62 individuals with 22q11.2DS and 57 age-and-gender-matched controls (aged 6–31). Using FreeSurfer, we examined differences in vertex-wise estimates of CV, CT and SA at each vertex, and compared the frequencies of vertices with a unique or overlapping difference for each morphometric feature. Our findings indicate that CT and SA make both common and unique contributions to volumetric differences in 22q11.2DS, and in some areas, their strong opposite effects mask differences in CV. By identifying the neuroanatomic variability in 22q11.2DS, and the separate contributions of CT and SA, we can start exploring the shared and distinct mechanisms that mediate neuropsychiatric symptoms across disorders, e.g. 22q11.2DS-related ASD and/or psychosis/schizophrenia.

Cortical morphology development in patients with 22q11.2 deletion syndrome at ultra-high risk of psychosis

2018 ◽  
Vol 48 (14) ◽  
pp. 2375-2383 ◽  
Author(s):  
Maria Carmela Padula ◽  
Marie Schaer ◽  
Marco Armando ◽  
Corrado Sandini ◽  
Daniela Zöller ◽  
...  
Keyword(s):  
High Risk ◽  
Surface Area ◽  
Cortical Thickness ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
Global Functioning ◽  
22Q11.2 Deletion ◽  
Cortical Volume ◽  
Ultra High Risk ◽  
Cortical Morphology

AbstractBackgroundPatients with 22q11.2 deletion syndrome (22q11DS) present a high risk of developing psychosis. While clinical and cognitive predictors for the conversion towards a full-blown psychotic disorder are well defined and largely used in practice, neural biomarkers do not yet exist. However, a number of investigations indicated an association between abnormalities in cortical morphology and higher symptoms severities in patients with 22q11DS. Nevertheless, few studies included homogeneous groups of patients differing in their psychotic symptoms profile.MethodsIn this study, we included 22 patients meeting the criteria for an ultra-high-risk (UHR) psychotic state and 22 age-, gender- and IQ-matched non-UHR patients. Measures of cortical morphology, including cortical thickness, volume, surface area and gyrification, were compared between the two groups using mass-univariate and multivariate comparisons. Furthermore, the development of these measures was tested in the two groups using a mixed-model approach.ResultsOur results showed differences in cortical volume and surface area in UHR patients compared with non-UHR. In particular, we found a positive association between surface area and the rate of change of global functioning, suggesting that higher surface area is predictive of improved functioning with age. We also observed accelerated cortical thinning during adolescence in UHR patients with 22q11DS.ConclusionsThese results, although preliminary, suggest that alterations in cortical volume and surface area as well as altered development of cortical thickness may be associated to a greater probability to develop psychosis in 22q11DS.

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.

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