scholarly journals Meta-Analysis: MRI Volumetric Data of Children with ADHD Subtypes

2020 ◽  
Author(s):  
Amanda Hysell
Keyword(s):  
Brain Structure ◽  
Brain Volume ◽  
Meta Analysis ◽  
Neurodevelopmental Disorder ◽  
Brain Regions ◽  
Volume Reduction ◽  
Volumetric Data ◽  
Adhd Subtypes ◽  
Magnetic Resonance Imaging Mri ◽  
Inattentive Type

Attention-deficit hyperactivity disorder (ADHD) is a common neurodevelopmental disorder consisting of inattentive and/or hyperactive behaviors that is typically prevalent in childhood. There are three recognized subtypes of this disorder—hyperactive, inattentive, and combined. The current study’s purpose is to examine how the subtypes differentiate based on brain structure volume size. There have been studies on ADHD subtypes and brain structure volumes in children, but there are a number of limitations in available research that make it difficult to generalize findings. A meta-analysis was done using 8 studies that included volumetric data of ADHD subtypes (inattentive and combined) in children that was acquired through magnetic resonance imaging (MRI) techniques. Analyses were done looking at combined and inattentive type in comparison to controls and between the two groups. Further subgroup analyses were done on gender and brain regions in the two subtypes. Results show that there is a significant brain volume reduction in combined type in comparison to controls and inattentive type. There is also a significant volume reduction observed in males. The other analyses done yielded insignificant findings, although the volume reduction in inattentive type was only slightly above the cutoff of alpha (0.05). These findings help in better understanding the relations between brain volume and ADHD subtypes, but further research is still needed in this area.

scholarly journals Gene-based analysis of ADHD using PASCAL: a biological insight into the novel associated genes

2019 ◽  
Vol 12 (1) ◽  
Author(s):  
Aitana Alonso-Gonzalez ◽  
Manuel Calaza ◽  
Cristina Rodriguez-Fontenla ◽  
Angel Carracedo
Keyword(s):  
Gene Network ◽  
Association Studies ◽  
Meta Analysis ◽  
Neurodevelopmental Disorder ◽  
Differentially Expressed Gene ◽  
Brain Regions ◽  
Genome Wide Association Studies ◽  
Summary Statistics ◽  
Biological Insight ◽  
Insight Into

Abstract Background Attention-Deficit Hyperactivity Disorder (ADHD) is a complex neurodevelopmental disorder (NDD) which may significantly impact on the affected individual’s life. ADHD is acknowledged to have a high heritability component (70–80%). Recently, a meta-analysis of GWAS (Genome Wide Association Studies) has demonstrated the association of several independent loci. Our main aim here, is to apply PASCAL (pathway scoring algorithm), a new gene-based analysis (GBA) method, to the summary statistics obtained in this meta-analysis. PASCAL will take into account the linkage disequilibrium (LD) across genomic regions in a different way than the most commonly employed GBA methods (MAGMA or VEGAS (Versatile Gene-based Association Study)). In addition to PASCAL analysis a gene network and an enrichment analysis for KEGG and GO terms were carried out. Moreover, GENE2FUNC tool was employed to create gene expression heatmaps and to carry out a (DEG) (Differentially Expressed Gene) analysis using GTEX v7 and BrainSpan data. Results PASCAL results have revealed the association of new loci with ADHD and it has also highlighted other genes previously reported by MAGMA analysis. PASCAL was able to discover new associations at a gene level for ADHD: FEZF1 (p-value: 2.2 × 10− 7) and FEZF1-AS1 (p-value: 4.58 × 10− 7). In addition, PASCAL has been able to highlight association of other genes that share the same LD block with some previously reported ADHD susceptibility genes. Gene network analysis has revealed several interactors with the associated ADHD genes and different GO and KEGG terms have been associated. In addition, GENE2FUNC has demonstrated the existence of several up and down regulated expression clusters when the associated genes and their interactors were considered. Conclusions PASCAL has been revealed as an efficient tool to extract additional information from previous GWAS using their summary statistics. This study has identified novel ADHD associated genes that were not previously reported when other GBA methods were employed. Moreover, a biological insight into the biological function of the ADHD associated genes across brain regions and neurodevelopmental stages is provided.

scholarly journals Reduced Brain Volume and White Matter Alterations in Shank3-Deficient Rats

2020 ◽  
Author(s):  
Carla Esther Meyer Golden ◽  
Victoria X Wang ◽  
Hala Harony-Nicolas ◽  
Patrick R. Hof ◽  
Joseph Buxbaum
Keyword(s):  
White Matter ◽  
Brain Structure ◽  
Brain Volume ◽  
Diffusion Tensor ◽  
Brain Size ◽  
Brain Regions ◽  
Autism Spectrum ◽  
Wild Type ◽  
Microstructural Alterations ◽  
The Brain

Abstract Background: Mutations and deletions in the SHANK3 synaptic gene cause the major neurodevelopmental features of Phelan-McDermid syndrome (PMS). The SHANK3 gene encodes a key structural component of excitatory synapses that is important for synaptogenesis. PMS is characterized by intellectual disability, autism spectrum disorder, cognitive deficits, physical dysmorphic features, sensory hyporeactivity, and alterations in the size of multiple brain regions. Clinical assessments and limited imaging studies have revealed a reduction in volume of multiple brain regions. They have also found white matter thinning and microstructural alterations to be persistent in patients with PMS. While many of these impairments have been replicated in mouse models of PMS, the brain structure of a rat model has not yet been studied. Methods: We assessed the brain structure of haploinsufficient and homozygous Shank3-deficient rats that model the behavioral deficits of PMS with magnetic resonance and diffusion tensor imaging, and compared their brain structure to wild type littermates.Results: Both gray and white matter structures were smaller in Shank3-deficient rats, leading to an overall reduction in brain size compared to wild type littermates. The largest region to be diminished in size was the neocortex. Some regions involved in sensory processing and white matter regions were also reduced in size. Lastly, the microstructure of two white matter tracts, the external capsule and fornix, was abnormal.Conclusions: Shank3-deficient rats replicate the reduced brain volume and altered white matter phenotypes present in individuals with PMS. Therefore, the brain regions that were altered represent potential cross-species structural biomarkers that warrant further study.

scholarly journals Localizing genomic regions contributing to the extremes of externalizing behavior: ADHD, aggressive and antisocial behaviors

2019 ◽  
Author(s):  
Mariana L. Rodríguez-López ◽  
Hilleke Hulshoff Pol ◽  
Barbara Franke ◽  
Marieke Klein
Keyword(s):  
Externalizing Behavior ◽  
Meta Analysis ◽  
Neurodevelopmental Disorder ◽  
Expression Patterns ◽  
Genetic Correlations ◽  
Brain Regions ◽  
Genetic Loci ◽  
Association Analyses ◽  
Meta Analyses ◽  
Genomic Regions

AbstractAttention-Deficit/Hyperactivity Disorder (ADHD) is a neurodevelopmental disorder, which in some cases occurs comorbid with aggressive and antisocial behavior (AGG; ASB). The three externalizing behaviors are moderately to highly heritable and are genetically correlated. However, the genomic regions underlying this correlation are unknown. In this study, we aimed to localize genetic loci shared between ADHD, AGG, and ASB, using two complementary approaches.GWAS summary statistics for ADHD, AGG, and ASB were used for (1) cross-trait gene-based meta-analysis association analyses and (2) local genetic correlation analyses to identify shared genetic loci. Results of both complementary methods were combined to retrieve overlapping genes. Biological functionality of prioritized genes was assessed by exploring gene expression patterns in brain tissues and testing for gene-based association with (subcortical) brain regions.We confirmed previous findings that ADHD, AGG, and ASB were positively genetically correlated at a global level. We identified eleven significant genes in cross-trait gene-based meta-analyses, 31 loci shared between traits; 34 genes were identified when both approaches were combined.This study emphasizes the complex genetic architecture underlying global genetic correlations at the locus level. Converging evidence from these cross-trait analyses highlights novel candidate genes underlying biological mechanisms shared by ADHD, AGG, and ASB.

scholarly journals Structural brain correlates of cognitive function in schizophrenia: a meta-analysis

2021 ◽  
Author(s):  
Marianne Khalil ◽  
Philippine Hollander ◽  
Delphine Raucher-Chene ◽  
Martin Lepage ◽  
Katie M. Lavigne
Keyword(s):  
Executive Function ◽  
Social Cognition ◽  
Brain Structure ◽  
Network Architecture ◽  
Visual Memory ◽  
Meta Analysis ◽  
Brain Networks ◽  
Brain Regions ◽  
Cognitive Domains ◽  
Structural Brain

Schizophrenia is characterized by cognitive impairments and widespread structural brain alterations (e.g., decreased volume, thickness, surface area). Brain structure-cognition associations have been extensively studied in schizophrenia, typically involving individual cognitive domains or brain regions of interest. Findings in overlapping and diffuse brain regions may point to structural alterations in large-scale brain networks. We performed a systematic review and meta-analysis examining whether brain structure-cognition associations can be explained in terms of biologically meaningful brain networks. Of 7,621 screened articles, 88 were included in a series of meta-analyses assessing publication bias, heterogeneity, and study quality. Significant associations were found between overall brain structure and eight cognitive domains (speed of processing, attention/vigilance, working/verbal/visual memory, executive function, social cognition, and verbal fluency). Brain structure within functionally defined networks (default, dorsal/ventral attention, frontoparietal, limbic, somatosensory, visual) and external structures (amygdala, hippocampus, and cerebellum) typically showed associations with conceptually related cognitive domains, with higher-level domains (e.g., executive function, social cognition) associated with more networks. These findings suggest brain structure-cognition associations in schizophrenia may follow network architecture.

Peripheral inflammatory markers associated with brain-volume reduction in patients with bipolar I disorder

2021 ◽  
pp. 1-34
Author(s):  
Shang-ying Tsai ◽  
Martha Sajatovic ◽  
Jung-Lung Hsu ◽  
Kuo-Hsuan Chung ◽  
Pao-Huan Chen ◽  
...  
Keyword(s):  
Plasma Level ◽  
Inflammatory Markers ◽  
Transforming Growth Factor ◽  
Brain Volume ◽  
Inflammatory Marker ◽  
Brain Magnetic Resonance Imaging ◽  
Brain Regions ◽  
Volume Reduction ◽  
Left Frontal Lobe ◽  
Bipolar I Disorder

Abstract Background: Neuroinflammation and brain structural abnormalities are found in bipolar disorder (BD). Elevated levels of cytokines and chemokines have been detected in the serum and cerebrospinal fluid of patients with BD. This study investigated the association between peripheral inflammatory markers and brain subregion volumes in BD patients. Methods: Euthymic patients with bipolar I disorder (BD-I) aged 20 to 45 years underwent whole-brain magnetic resonance imaging. Plasma levels of monocyte chemoattractant protein-1, chitinase-3-like protein 1 (also known as YKL-40), fractalkine, soluble tumor necrosis factor receptor-1 (sTNF-R1), interleukin-1β, and transforming growth factor-β1 were measured on the day of neuroimaging. Clinical data were obtained from medical records and interviewing patients and reliable others. Results: We recruited 31 patients with a mean age of 29.5 years. In multivariate regression analysis, plasma level YKL-40, a chemokine, was the most common inflammatory marker among these measurements displaying significantly negative association with the volume of various brain subareas across the frontal, temporal, and parietal lobes. Higher YKL-40 and sTNF-R1 levels were both significantly associated with lower volumes of the left anterior cingulum, left frontal lobe, right superior temporal gyrus and supramarginal gyrus. A greater number of total lifetime mood episodes was also associated with smaller volumes of the right caudate nucleus and bilateral frontal lobes. Conclusions: The volume of brain regions known to be relevant to BD-I may be diminished in relation to higher plasma level of YKL-40, sTNF-R1, and more lifetime mood episodes. Macrophage and macrophage-like cells may be involved in brain volume reduction among BD-I patients.

Neural Underpinnings of Numerical and Spatial Cognition: An fMRI Meta-Analysis of Brain Regions Associated with Symbolic Number, Arithmetic, and Mental Rotation

2019 ◽  
Author(s):  
Zachary Hawes ◽  
H Moriah Sokolowski ◽  
Chuka Bosah Ononye ◽  
Daniel Ansari
Keyword(s):  
Mental Rotation ◽  
Parietal Lobe ◽  
Meta Analysis ◽  
Likelihood Estimation ◽  
Brain Regions ◽  
Angular Gyrus ◽  
Number Representation ◽  
Neural Underpinnings ◽  
The Right ◽  
Symbolic Number

Where and under what conditions do spatial and numerical skills converge and diverge in the brain? To address this question, we conducted a meta-analysis of brain regions associated with basic symbolic number processing, arithmetic, and mental rotation. We used Activation Likelihood Estimation (ALE) to construct quantitative meta-analytic maps synthesizing results from 86 neuroimaging papers (~ 30 studies/cognitive process). All three cognitive processes were found to activate bilateral parietal regions in and around the intraparietal sulcus (IPS); a finding consistent with shared processing accounts. Numerical and arithmetic processing were associated with overlap in the left angular gyrus, whereas mental rotation and arithmetic both showed activity in the middle frontal gyri. These patterns suggest regions of cortex potentially more specialized for symbolic number representation and domain-general mental manipulation, respectively. Additionally, arithmetic was associated with unique activity throughout the fronto-parietal network and mental rotation was associated with unique activity in the right superior parietal lobe. Overall, these results provide new insights into the intersection of numerical and spatial thought in the human brain.

scholarly journals Multi-modal magnetic resonance imaging in a mouse model of concussion

2021 ◽  
Vol 8 (1) ◽  
Author(s):  
Xuan Vinh To ◽  
Fatima A. Nasrallah
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Data Collection ◽  
Mouse Model ◽  
Meta Analysis ◽  
Data Repository ◽  
Resonance Imaging ◽  
Loss Of Righting Reflex ◽  
Post Impact ◽  
Magnetic Resonance Imaging Mri

AbstractThis data collection contains Magnetic Resonance Imaging (MRI) data, including structural, diffusion, stimulus-evoked, and resting-state functional MRI and behavioural assessment results, including acute post-impact Loss-of-Righting Reflex time and acute, subacute, and longer-term Neural Severity Score, and Open Field Behaviour obtained from a mouse model of concussion. Four cohorts with 43 3–4 months old male mice in total were used: Sham (n = 14, n = 6 day 2, n = 3 day 7, n = 5 day 14), concussion day 2 (CON 2; n = 9), concussion day 7 (CON 7; n = 10), concussion day 14 (CON 14; n = 10). The data collection contains the aforementioned MRI data in compressed NIFTI format, data sheets on animal’s backgrounds and behavioural outcomes and is made publicly available from a data repository. The available data are intended to facility cross-study comparisons, meta-analysis, and science reproducibility.

scholarly journals UTMOST, a single and cross-tissue TWAS (Transcriptome Wide Association Study), reveals new ASD (Autism Spectrum Disorder) associated genes

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Cristina Rodriguez-Fontenla ◽  
Angel Carracedo
Keyword(s):  
In Silico ◽  
Association Studies ◽  
Meta Analysis ◽  
Neurodevelopmental Disorder ◽  
Gastrointestinal Symptoms ◽  
Tissue Expression ◽  
Autism Spectrum ◽  
Biological Characterization ◽  
Large Size ◽  
Body Tissues

AbstractAutism spectrum disorders (ASD) is a complex neurodevelopmental disorder that may significantly impact on the affected individual’s life. Common variation (SNPs) could explain about 50% of ASD heritability. Despite this fact and the large size of the last GWAS meta-analysis, it is believed that hundreds of risk genes in ASD have yet to be discovered. New tools, such as TWAS (Transcriptome Wide Association Studies) which integrate tissue expression and genetic data, are a great approach to identify new ASD susceptibility genes. The main goal of this study is to use UTMOST with the publicly available summary statistics from the largest ASD GWAS meta-analysis as genetic input. In addition, an in silico biological characterization for the novel associated loci was performed. Our results have shown the association of 4 genes at the brain level (CIPC, PINX1, NKX2-2, and PTPRE) and have highlighted the association of NKX2-2, MANBA, ERI1, and MITF at the gastrointestinal level. The gastrointestinal associations are quite relevant given the well-established but unexplored relationship between ASD and gastrointestinal symptoms. Cross-tissue analysis has shown the association of NKX2-2 and BLK. UTMOST-associated genes together with their in silico biological characterization seems to point to different biological mechanisms underlying ASD etiology. Thus, it would not be restricted to brain tissue and it will involve the participation of other body tissues such as the gastrointestinal.

scholarly journals PET Scan Perfusion Imaging in the Prader–Willi Syndrome: New Insights into the Psychiatric and Social Disturbances

2010 ◽  
Vol 31 (1) ◽  
pp. 275-282 ◽  
Author(s):  
Carine Mantoulan ◽  
Pierre Payoux ◽  
Gwenaëlle Diene ◽  
Mélanie Glattard ◽  
Bernadette Rogé ◽  
...  
Keyword(s):  
Psychiatric Disorders ◽  
Severe Disabilities ◽  
Brain Regions ◽  
Pet Scan ◽  
Prader Willi Syndrome ◽  
Behavioral Skills ◽  
Positron Emission ◽  
Functional Consequences ◽  
Magnetic Resonance Imaging Mri ◽  
Pet Scans

The Prader–Willi syndrome (PWS), a rare multisystem genetic disease, leads to severe disabilities, such as morbid obesity, endocrine dysfunctions, psychiatric disorders, and social disturbances. We explored the whole brain of patients with PWS to detect abnormalities that might explain the behavioral and social disturbances, as well as the psychiatric disorders of these patients. Nine patients with PWS (six males, three females; mean age 16.4 years) underwent a positron emission tomography (PET) scan with H215O as a tracer to measure regional cerebral blood flow (rCBF). The images were compared with those acquired from nine controls (six males, three females; mean age 21.2 years). A morphologic magnetic resonance imaging (MRI) was also performed in PWS patients, and their cognitive and behavioral skills were assessed with Wechsler Intelligence Scale for Children III and the Child Behavior Check List (CBCL). The MRI images showed no evident anatomic abnormalities, whereas PET scans revealed hypoperfused brain regions in PWS patients compared with controls, particularly in the anterior cingulum and superior temporal regions. We observed a significant relationship ( P<0.05) between rCBF in the hypoperfused regions and CBCL scores. The functional consequences of these perfusion abnormalities in specific brain regions might explain the behavioral and social problems observed in these individuals.

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