Association of Schizophrenia in 22q11.2 Deletion Syndrome and Gray Matter Volumetric Deficits in the Superior Temporal Gyrus

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.

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Evidence of gray matter reduction and dysfunction in chromosome 22q11.2 deletion syndrome

Psychiatry Research Neuroimaging ◽

10.1016/j.pscychresns.2009.07.003 ◽

2010 ◽

Vol 181 (1) ◽

pp. 1-8 ◽

Cited By ~ 32

Author(s):

Vandana Shashi ◽

Thomas R. Kwapil ◽

Jessica Kaczorowski ◽

Margaret N. Berry ◽

Cesar S. Santos ◽

...

Keyword(s):

Gray Matter ◽

22Q11.2 Deletion Syndrome ◽

Deletion Syndrome ◽

22Q11.2 Deletion ◽

Chromosome 22Q11.2 ◽

Chromosome 22Q11.2 Deletion Syndrome

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

Molecular Psychiatry ◽

10.1038/s41380-021-01209-8 ◽

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.

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Social Cognition Deficit Related to Reduced Frontal Gray Matter Volume as Markers of Psychosis Proneness in 22q11.2 Deletion Syndrome

10.26226/morressier.5a7070e4d462b80290b571e0 ◽

2018 ◽

Author(s):

Marianna Frascarelli

Keyword(s):

Social Cognition ◽

Gray Matter ◽

Gray Matter Volume ◽

22Q11.2 Deletion Syndrome ◽

Deletion Syndrome ◽

22Q11.2 Deletion ◽

Matter Volume ◽

Psychosis Proneness

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Remediating functional activation in the face perception network in autism and 22q11.2 deletion syndrome

Archives of Psychology ◽

10.31296/aop.v2i8.75 ◽

2018 ◽

Vol 2 (8) ◽

Author(s):

Bronwyn Glaser

Keyword(s):

Face Processing ◽

Spatial Working Memory ◽

Functional Neuroimaging ◽

Superior Temporal Gyrus ◽

22Q11.2 Deletion Syndrome ◽

Autism Spectrum ◽

Deletion Syndrome ◽

Precentral Gyrus ◽

22Q11.2 Deletion ◽

Lingual Gyrus

Introduction: Vis-à-Vis (VAV), an online enrichment program targeting skills that underlie social abilities (looking at the eye region of faces, emotion comprehension & recognition and visuo-spatial working memory) was administered to children and adolescents with autism spectrum disorder (ASD), 22q11.2 deletion syndrome (22q11DS)) and developmental delay (DD). Differential functional activation throughout the brain and in regions related to face processing were measured before and after remediation. Methods: Participants with ASD (N=16), 22q11DS (N=12), and DD (N=9) completed a functional localizer task consisting of pictures of faces and tools before undertaking the 12-week VAV program (PreR). The same fMRI task was administered immediately after VAV, at post-remediation (PostR), and again three months later (Break). A group of healthy controls (N=10) was scanned, but not given VAV, to provide a baseline comparison for patients’ results. Functional neuroimaging data was analysed for category-specific brain activity. Results: The ASD and the 22q11DS groups both showed atypical activation to faces at PreR compared to controls. Whereas activation in 22q11DS at PostR and Break resembled that of controls in bilateral superior temporal gyrus, insula, bilateral precentral gyrus, right lingual gyrus and right middle frontal cortex. Unlike the 22q11DS group, the ASD group’s activation did not resemble that of controls at PostR or Break. Significant clusters in the ASD group were limited to left insula and right lingual gyrus at PostR, and right superior frontal gyrus at Break. Nevertheless, a significant relationship between increased BOLD response between PreR and PostR in the right fusiform gyrus and improvement on the VAV games teaching participants to focus on the eyes was observed in both groups. This relationship was not present in the DD group. Conclusions: These results support hypo-activation in response to faces in ASD and 22q11DS and differential cerebral activation in face processing networks following cognitive remediation.

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Surgical Management of Patients With 22q11.2 Deletion Syndrome

Perspectives of the ASHA Special Interest Groups ◽

10.1044/2019_pers-sig5-2019-0004 ◽

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

Perspectives of the ASHA Special Interest Groups ◽

10.1044/2019_pers-sig5-2019-0002 ◽

2019 ◽

Vol 4 (4) ◽

pp. 633-640 ◽

Cited By ~ 1

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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