scholarly journals ENIGMA and Global Neuroscience: A Decade of Large-Scale Studies of the Brain in Health and Disease across more than 40 Countries

2019 ◽  
Author(s):  
Paul Thompson ◽  
Neda Jahanshad ◽  
Christopher R. K. Ching ◽  
Lauren Salminen ◽  
Sophia I Thomopoulos ◽  
...  
Keyword(s):  
Large Scale ◽  
Meta Analysis ◽  
22Q11.2 Deletion Syndrome ◽  
Autism Spectrum ◽  
Deletion Syndrome ◽  
Sex And Gender ◽  
Post Traumatic Stress ◽  
Global Alliance ◽  
Compulsive Disorder ◽  
Health And Disease

This review summarizes the last decade of work by the ENIGMA (Enhancing NeuroImaging Genetics through Meta Analysis) Consortium, a global alliance of over 1,400 scientists across 43 countries, studying the human brain in health and disease. Building on large-scale genetic studies that discovered the first robustly replicated genetic loci associated with brain metrics, ENIGMA has diversified into over 50 working groups (WGs), pooling worldwide data and expertise to answer fundamental questions in neuroscience, psychiatry, neurology, and genetics. Most ENIGMA WGs focus on specific psychiatric and neurological conditions, other WGs study normal variation due to sex and gender differences, or development and aging; still other WGs develop methodological pipelines and tools to facilitate harmonized analyses of “big data” (i.e., genetic and epigenetic data, multimodal MRI, and electroencephalography data). These international efforts have yielded the largest neuroimaging studies to date in schizophrenia, bipolar disorder, major depressive disorder, post-traumatic stress disorder, substance use disorders, obsessive-compulsive disorder, attention-deficit/hyperactivity disorder, autism spectrum disorders, epilepsy, and 22q11.2 deletion syndrome. More recent ENIGMA WGs have formed to study anxiety disorders, suicidal thoughts and behavior, sleep and insomnia, eating disorders, irritability, brain injury, antisocial personality and conduct disorder, and dissociative identity disorder. Here, we summarize the first decade of ENIGMA’s activities and ongoing projects, and describe the successes and challenges encountered along the way. We highlight the advantages of collaborative large-scale coordinated data analyses for testing reproducibility and robustness of findings, offering the opportunity to identify brain systems involved in clinical syndromes across diverse samples and associated genetic, environmental, demographic, cognitive and psychosocial factors.

scholarly journals Magnitude and variability of structural brain abnormalities in neuropsychiatric disease: protocol for a network meta-analysis of MRI studies

2021 ◽  
pp. ebmental-2020-300229
Author(s):  
Robert McCutcheon ◽  
Toby Pillinger ◽  
George Welby ◽  
Luke Vano ◽  
Connor Cummings ◽  
...  
Keyword(s):  
Anxiety Disorder ◽  
Personality Disorder ◽  
Meta Analysis ◽  
Structural Mri ◽  
Autism Spectrum ◽  
Deletion Syndrome ◽  
Brain Volumes ◽  
Neuropsychiatric Disease ◽  
Compulsive Disorder ◽  
Mri Studies

IntroductionStructural MRI is the most frequently used method to investigate brain volume alterations in neuropsychiatric disease. Previous meta-analyses have typically focused on a single diagnosis, thereby precluding transdiagnostic comparisons.Methods and analysisWe will include all structural MRI studies of adults that report brain volumes for participants from at least two of the following diagnostic groups: healthy controls, schizophrenia, schizoaffective disorder, delusional disorder, psychotic depression, clinical high risk for psychosis, schizotypal personality disorder, psychosis unspecified, bipolar disorder, autism spectrum disorder, major depressive disorder, attention deficit hyperactivity disorder, obsessive compulsive disorder, post-traumatic stress disorder, emotionally unstable personality disorder, 22q11 deletion syndrome, generalised anxiety disorder, social anxiety disorder, panic disorder, mixed anxiety and depression. Network meta-analysis will be used to synthesise eligible studies. The primary analysis will examine standardised mean difference in average volume, a secondary analysis will examine differences in variability of volumes.DiscussionThis network meta-analysis will provide a transdiagnostic integration of structural neuroimaging studies, providing researchers with a valuable summary of a large literature.PROSPERO registration numberCRD42020221143.

scholarly journals Magnitude and heterogeneity of brain structural abnormalities in 22q11.2 deletion syndrome: a meta-analysis

2020 ◽  
Vol 25 (8) ◽  
pp. 1704-1717 ◽  
Author(s):  
Maria Rogdaki ◽  
Maria Gudbrandsen ◽  
Robert A McCutcheon ◽  
Charlotte E Blackmore ◽  
Stefan Brugger ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
White Matter ◽  
Brain Volume ◽  
Meta Analysis ◽  
22Q11.2 Deletion Syndrome ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Structural Abnormalities

AbstractThe 22q11.2 deletion syndrome (22q11.2DS) is a neurodevelopmental disorder associated with a number of volumetric brain abnormalities. The syndrome is also associated with an increased risk for neuropsychiatric disorders including schizophrenia and autism spectrum disorder. An earlier meta-analysis showed reduced grey and white matter volumes in individuals with 22q11.2DS. Since this analysis was conducted, the number of studies has increased markedly, permitting more precise estimates of effects and more regions to be examined. Although 22q11.2DS is clinically heterogeneous, it is not known to what extent this heterogeneity is mirrored in neuroanatomy. The aim of this study was thus to investigate differences in mean brain volume and structural variability within regions, between 22q11.2DS and typically developing controls. We examined studies that reported measures of brain volume using MRI in PubMed, Web of Science, Scopus and PsycINFO from inception to 1 May 2019. Data were extracted from studies in order to calculate effect sizes representing case–control difference in mean volume, and in the variability of volume (as measured using the log variability ratio (lnVR) and coefficient of variation ratio (CVR)). We found significant overall decreases in mean volume in 22q11.2DS compared with control for: total brain (g = −0.96; p < 0.001); total grey matter (g = −0.81, p < 0.001); and total white matter (g = −0.81; p < 0.001). There was also a significant overall reduction of mean volume in 22q11.2DS subjects compared with controls in frontal lobe (g = −0.47; p < 0.001), temporal lobe (g = −0.84; p < 0.001), parietal lobe (g = −0.73; p = 0.053), cerebellum (g = −1.25; p < 0.001) and hippocampus (g = −0.90; p < 0.001). Significantly increased variability in 22q11.2DS individuals compared with controls was found only for the hippocampus (VR, 1.14; p = 0.036; CVR, 1.30; p < 0.001), and lateral ventricles (VR, 1.56; p = 0.004). The results support the notion that structural abnormalities in 22q11.2DS and schizophrenia are convergent, and also to some degree with findings in autism spectrum disorder. Finally, the increased variability seen in the hippocampus in 22q11.2DS may underlie some of the heterogeneity observed in the neuropsychiatric phenotype.

scholarly journals Potential scalp stimulation targets for mental disorders: evidence from neuroimaging studies

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
Jin Cao ◽  
Thalia Celeste Chai-Zhang ◽  
Yiting Huang ◽  
Maya Nicole Eshel ◽  
Jian Kong
Keyword(s):  
Mental Disorders ◽  
Large Scale ◽  
Psychiatric Symptoms ◽  
Common Mental Disorders ◽  
Target Selection ◽  
Brain Regions ◽  
Autism Spectrum ◽  
Transcranial Electrical Stimulation ◽  
Post Traumatic Stress ◽  
Compulsive Disorder

AbstractMental disorders widely contribute to the modern global disease burden, creating a significant need for improvement of treatments. Scalp stimulation methods (such as scalp acupuncture and transcranial electrical stimulation) have shown promising results in relieving psychiatric symptoms. However, neuroimaging findings haven’t been well-integrated into scalp stimulation treatments. Identifying surface brain regions associated with mental disorders would expand target selection and the potential for these interventions as treatments for mental disorders. In this study, we performed large-scale meta-analyses separately on eight common mental disorders: attention deficit hyperactivity disorder, anxiety disorder, autism spectrum disorder, bipolar disorder, compulsive disorder, major depression, post-traumatic stress disorder and schizophrenia; utilizing modern neuroimaging literature to summarize disorder-associated surface brain regions, and proposed neuroimaging-based target protocols. We found that the medial frontal gyrus, the supplementary motor area, and the dorsal lateral prefrontal cortex are commonly involved in the pathophysiology of mental disorders. The target protocols we proposed may provide new brain targets for scalp stimulation in the treatment of mental disorders, and facilitate its clinical application.

scholarly journals Neurodevelopmental Trajectories and Psychiatric Morbidity: Lessons Learned From the 22q11.2 Deletion Syndrome

2021 ◽  
Vol 23 (3) ◽  
Author(s):  
Ania M. Fiksinski ◽  
Maude Schneider ◽  
Janneke Zinkstok ◽  
Danielle Baribeau ◽  
Samuel J. R. A. Chawner ◽  
...  
Keyword(s):  
Genetic Variants ◽  
Clinical Care ◽  
Psychiatric Morbidity ◽  
Phenotypic Expression ◽  
22Q11.2 Deletion Syndrome ◽  
Autism Spectrum ◽  
Lessons Learned ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Variable Expression

AbstractPurpose of ReviewThe 22q11.2 deletion syndrome (22q11DS) is associated with a broad spectrum of neurodevelopmental phenotypes and is the strongest known single genetic risk factor for schizophrenia. Compared to other rare structural pathogenic genetic variants, 22q11DS is relatively common and one of the most extensively studied. This review provides a state-of-the-art overview of current insights regarding associated neurodevelopmental phenotypes and potential implications for 22q11DS and beyond.Recent FindingsWe will first discuss recent findings with respect to neurodevelopmental phenotypic expression associated with 22q11DS, including psychotic disorders, intellectual functioning, autism spectrum disorders, as well as their interactions. Second, we will address considerations that are important in interpreting these data and propose potential implications for both the clinical care for and the empirical study of individuals with 22q11DS. Third, we will highlight variable penetrance and pleiotropy with respect to neurodevelopmental phenotypes in 22q11DS. We will discuss how these phenomena are consistently observed in the context of virtually all rare pathogenic variants and that they pose substantial challenges from both a clinical and a research perspective.SummaryWe outline how 22q11DS could be viewed as a genetic model for studying neurodevelopmental phenotypes. In addition, we propose that 22q11DS research can help elucidate mechanisms underlying variable expression and pleiotropy of neurodevelopmental phenotypes, insights that are likely relevant for 22q11DS and beyond, including for individuals with other rare pathogenic genetic variants and for individuals with idiopathic neurodevelopmental conditions.

scholarly journals Episodic Behavioural Regression in an 8-Year-Old Female: Sequelae of 22q11.2 Duplication Syndrome

2018 ◽  
Vol 2018 ◽  
pp. 1-3
Author(s):  
A. Bahji ◽  
S. Khalid-Khan
Keyword(s):  
Case Reports ◽  
22Q11.2 Deletion Syndrome ◽  
Autism Spectrum ◽  
Deletion Syndrome ◽  
Medical Illness ◽  
22Q11.2 Deletion ◽  
Genetic Syndrome ◽  
Potential Risk Factors ◽  
22Q11.2 Duplication Syndrome ◽  
Duplication Syndrome

22q11.2 duplication syndrome is a recently discovered genetic syndrome with unclear neuropsychiatric sequelae. While its connection to 22q11.2 deletion syndrome is actively investigated, case reports on the neuropsychiatric sequelae of affected individuals have been previously described, largely focusing on comorbid autism spectrum disorder. Here, we present the case of an 8-year-old female experiencing episodes of severe behavioural regression following medical illness. We analyze the case and relate it to the available literature and identify potential risk factors.

scholarly journals The Impact of MNRI Therapy on the Levels of Neurotransmitters Associated with Inflammatory Processes

2020 ◽  
Vol 21 (4) ◽  
pp. 1358 ◽  
Author(s):  
Tatiana V. Tatarinova ◽  
Trina Deiss ◽  
Lorri Franckle ◽  
Susan Beaven ◽  
Jeffrey Davis
Keyword(s):  
Attention Deficit ◽  
Attention Deficit Disorder ◽  
Emotional Regulation ◽  
Cognitive Skills ◽  
Developmental Disorders ◽  
Negative Impact ◽  
Autism Spectrum ◽  
Post Traumatic Stress ◽  
Compulsive Disorder ◽  
The Impact

The neurotransmitter levels of representatives from five different diagnosis groups were tested before and after participation in the MNRI®—Masgutova Neurosensorimotor Reflex Intervention. The purpose of this study was to ascertain neurological impact on (1) Developmental disorders, (2) Anxiety disorders/OCD (Obsessive Compulsive Disorder), PTSD (Post-Traumatic Stress disorder), (3) Palsy/Seizure disorders, (4) ADD/ADHD (Attention Deficit Disorder/Attention Deficit Disorder Hyperactive Disorder), and (5) ASD (Autism Spectrum Disorder) disorders. Each participant had a form of neurological dysregulation and typical symptoms respective to their diagnosis. These diagnoses have a severe negative impact on the quality of life, immunity, stress coping, cognitive skills, and social assimilation. This study showed a trend towards optimization and normalization of neurological and immunological functioning, thus supporting the claim that the MNRI method is an effective non-pharmacological neuromodulation treatment of neurological disorders. The effects of MNRI on inflammation have not yet been assessed. The resulting post-MNRI changes in participants’ neurotransmitters show significant adjustments in the regulation of the neurotransmitter resulting in being calmer, a decrease of hypervigilance, an increase in stress resilience, behavioral and emotional regulation improvements, a more positive emotional state, and greater control of cognitive processes. In this paper, we demonstrate that the MNRI approach is an intervention that reduces inflammation. It is also likely to reduce oxidative stress and encourage homeostasis of excitatory neurotransmitters. MNRI may facilitate neurodevelopment, build stress resiliency, neuroplasticity, and optimal learning opportunity. There have been no reported side effects of MNRI treatments.

scholarly journals Developmental coordination disorder, psychopathology and IQ in 22q11.2 deletion syndrome

2018 ◽  
Vol 212 (1) ◽  
pp. 27-33 ◽  
Author(s):  
Adam C. Cunningham ◽  
Sue Delport ◽  
Wendy Cumines ◽  
Monica Busse ◽  
David E. J. Linden ◽  
...  
Keyword(s):  
Developmental Coordination Disorder ◽  
Neurodevelopmental Disorder ◽  
22Q11.2 Deletion Syndrome ◽  
Autism Spectrum ◽  
Deletion Syndrome ◽  
Neurocognitive Deficits ◽  
22Q11.2 Deletion ◽  
Hyperactivity Disorder ◽  
History Of ◽  
Coordination Disorder

Background22q11.2 deletion syndrome (22q11.2DS) is associated with high rates of neurodevelopmental disorder, however, the links between developmental coordination disorder (DCD), intellectual function and psychiatric disorder remain unexplored.AimsTo establish the prevalence of indicative DCD in children with 22q11.2DS and examine associations with IQ, neurocognition and psychopathology.MethodNeurocognitive assessments and psychiatric interviews of 70 children with 22q11.2DS (mean age 11.2, s.d. = 2.2) and 32 control siblings (mean age 11.5, s.d. = 2.1) were carried out in their homes. Nine children with 22q11.2DS and indicative DCD were subsequently assessed in an occupational therapy clinic.ResultsIndicative DCD was found in 57 (81.4%) children with 22q11.2DS compared with 2 (6.3%) control siblings (odds ratio (OR) = 36.7,P< 0.001). Eight of nine (89%) children with indicative DCD met DSM-5 criteria for DCD. Poorer coordination was associated with increased numbers of anxiety, (P< 0.001), attention-deficit hyperactivity disorder (ADHD) (P< 0.001) and autism-spectrum disorder (ASD) symptoms (P< 0.001) in children with 22q11.2DS. Furthermore, 100% of children with 22q11.2DS and ADHD had indicative DCD (20 of 20), as did 90% of children with anxiety disorder (17 of 19) and 96% of children who screened positive for ASD (22 of 23). The Developmental Coordination Disorder Questionnaire score was related to sustained attention (P= 0.006), even after history of epileptic fits (P= 0.006) and heart problems (P= 0.009) was taken into account.ConclusionsClinicians should be aware of the high risk of coordination difficulties in children with 22q11.2DS and its association with risk of mental disorder and specific neurocognitive deficits.Declaration of interestNone.

The Association between COMT Val158Met Polymorphism and the Post-Traumatic Stress Disorder Risk: A Meta-Analysis

2021 ◽  
pp. 1-14
Author(s):  
Mi Su ◽  
Yongyan Song
Keyword(s):  
Post Traumatic Stress Disorder ◽  
Traumatic Stress ◽  
Large Scale ◽  
Stress Disorder ◽  
Meta Analysis ◽  
Cochrane Library ◽  
Post Traumatic Stress ◽  
Val158met Polymorphism ◽  
Post Traumatic ◽  
The Impact

<b><i>Background:</i></b> Genetic factors were suggested to have influence on the development of post-traumatic stress disorder (PTSD). The possible association between catechol-O-methyltransferase (<i>COMT</i>) Val158Met polymorphism and PTSD has been evaluated in several studies. But the results were still controversial. Therefore, we conduct this meta-analysis to address these issues. <b><i>Methods:</i></b> The PubMed, EMBASE, Cochrane Library, and Web of Science databases were searched for eligible studies. The pooled odds ratio (OR) with 95% confidence interval (CI) was calculated to estimate the association between <i>COMT</i> Val158Met polymorphism and PTSD. <b><i>Results:</i></b> Five articles including 6 studies with 893 cases and 968 controls were finally included in the present meta-analysis. The pooled analyses did not demonstrate a significant association between the <i>COMT</i> Val158Met polymorphism and PTSD in any of the selected genetic models: allele model (OR = 1.13, 95% CI: 0.97–1.31), dominant model (OR = 1.17, 95% CI: 0.93–1.46), recessive model (OR = 1.44, 95% CI: 0.78–2.66), and additive model (OR = 1.54, 95% CI: 0.85–2.80). Subgroup analyses suggested that the Hardy-Weinberg equilibrium status of genotype distributions could influence the relationship of <i>COMT</i> Val158Met polymorphism and PTSD. <b><i>Conclusions:</i></b> The present meta-analysis suggested that the <i>COMT</i> Val158Met polymorphism may not be associated with the PTSD risk. Further large-scale and population-representative studies are warranted to evaluate the impact of the <i>COMT</i> Val158Met polymorphism on the risk of PTSD.

Integrative Analysis of shared Genetic Pathogenesis by Autism Spectrum Disorder and Obsessive-Compulsive Disorder

2019 ◽  
Author(s):  
Dongbai Liu ◽  
Hongbao Cao ◽  
Kamil Can Kural ◽  
Qi Fang ◽  
Fuquan Zhang
Keyword(s):  
Obsessive Compulsive Disorder ◽  
Large Scale ◽  
Genetic Network ◽  
Autism Spectrum ◽  
P Value ◽  
Genetic Associations ◽  
Obsessive Compulsive ◽  
Systematic Analysis ◽  
Gene Markers ◽  
Compulsive Disorder

Abstract Background Many common pathological features have been observed for both autism spectrum disorders (ASD) and obsessive-compulsive disorder (OCD). However, no systematic analysis of the common gene markers associated both ASD and OCD has been conducted so far. Results Here, two batches of large-scale literature based disease-gene relation data (updated in 2017 and 2019, respectively) and gene expression data were integrated to study the possible association between OCD and ASD at the genetic level. Genes linked to OCD and ASD present significant overlap (p-value<2.64e-39). A genetic network of over 20 genes was constructed, through which OCD and ASD may exert influence on each other. The 2017-based analysis suggested six potential common risk genes for OCD and ASD (CDH2, ADCY8, APOE, TSPO, TOR1A, and OLIG2), and the 2019-based study identified two more genes (DISP1 and SETD1A). Notably, the gene APOE identified by the 2017-based analysis has been implicated to have an association with ASD in a recently study (2018) with DNA methylation analysis. Conclusions Our results support the possible complex genetic associations between OCD and ASD. Genes linked to one disease is worthy of further investigation as potential risk factors for the other.

scholarly journals Patterns of Cortical Folding Associated with Autistic Symptoms in Carriers and Noncarriers of the 22q11.2 Microdeletion

2020 ◽  
Vol 30 (10) ◽  
pp. 5281-5292 ◽  
Author(s):  
Maria Gudbrandsen ◽  
Caroline Mann ◽  
Anke Bletsch ◽  
Eileen Daly ◽  
Clodagh M Murphy ◽  
...  
Keyword(s):  
22Q11.2 Deletion Syndrome ◽  
Brain Regions ◽  
Autism Spectrum ◽  
Deletion Syndrome ◽  
Cortical Folding ◽  
Distinct Subgroup ◽  
Autistic Symptoms ◽  
22Q11.2 Microdeletion ◽  
High Degree ◽  
Psychiatric Manifestations

Abstract 22q11.2 deletion syndrome (22q11.2DS) is a genetic condition accompanied by a range of psychiatric manifestations, including autism spectrum disorder (ASD). It remains unknown, however, whether these symptoms are mediated by the same or distinct neural mechanisms as in idiopathic ASD. Here, we examined differences in lGI associated with ASD in 50 individuals with 22q11.2DS (n = 25 with ASD, n = 25 without ASD) and 81 individuals without 22q11.2DS (n = 40 with ASD, n = 41 typically developing controls). We initially utilized a factorial design to identify the set of brain regions where lGI is associated with the main effect of 22q11.2DS, ASD, and with the 22q11.2DS-by-ASD interaction term. Subsequently, we employed canonical correlation analysis (CCA) to compare the multivariate association between variability in lGI and the complex clinical phenotype of ASD between 22q11.2DS carriers and noncarriers. Across approaches, we established that even though there is a high degree of clinical similarity across groups, the associated patterns of lGI significantly differed between carriers and noncarriers of the 22q11.2 microdeletion. Our results suggest that ASD symptomatology recruits different neuroanatomical underpinnings across disorders and that 22q11.2DS individuals with ASD represent a neuroanatomically distinct subgroup that differs from 22q11.2DS individuals without ASD and from individuals with idiopathic ASD.

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