Corpus Callosum Area and Brain Volume in Autism Spectrum Disorder: Quantitative Analysis of Structural MRI from the ABIDE Database

Hiess, Rebecca Kucharsky; Alter, Rachel; Sojoudi, Somayeh; Ardekani, Babak A.; Kuzniecky, Rubin; Pardoe, Heath R.

doi:10.1007/s10803-015-2468-8

Cited by 42 publications

(29 citation statements)

References 22 publications

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“…Prior evidence suggests a genetic effect of disease liability on ICV in these three disorders(2, 65, 66). In particular, reduced total brain gray matter volume was observed among unaffected relatives of individuals with schizophrenia(67–69) and ADHD(65).…”

Section: Discussionmentioning

confidence: 99%

Partitioning heritability analysis reveals a shared genetic basis of brain anatomy and schizophrenia

et al. 2016

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Schizophrenia is a devastating neurodevelopmental disorder with a complex genetic etiology. Widespread cortical gray matter loss has been observed in patients and prodromal samples. However, it remains unresolved whether schizophrenia-associated cortical structure variations arise due to disease etiology or secondary to the illness. Here we address this question using a partitioning-based heritability analysis of genome-wide SNP and neuroimaging data from 1,750 healthy individuals. We find that schizophrenia-associated genetic variants explain a significantly enriched proportion of trait heritability in eight brain phenotypes (FDR=10%). In particular, intracranial volume (ICV) and left superior frontal gyrus thickness exhibit significant and robust associations with schizophrenia genetic risk under varying SNP selection conditions. Cross disorder comparison suggests that the neurogenetic architecture of schizophrenia-associated brain regions is, at least in part, shared with other psychiatric disorders. Our study highlights key neuroanatomical correlates of schizophrenia genetic risk in the general population. These may provide fundamental insights into the complex pathophysiology of the illness, and a potential link to neurocognitive deficits shaping the disorder.

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Section: Discussionmentioning

confidence: 99%

Partitioning heritability analysis reveals a shared genetic basis of brain anatomy and schizophrenia

et al. 2016

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“…T1-weighted scans from all contributing ABIDE sites were rated for movement artifacts on a scale from 1 (worst quality) to 5 (best quality) by a reviewer blind to group status. The QA ratings may be downloaded from the following site: https://sites.google.com/site/hpardoe/cc_abide ( KucharskyHiess et al, 2015 ). Only scans that received the highest rating (i.e., 4 or 5) were included in this study.…”

Section: Methodsmentioning

confidence: 99%

Periventricular white matter abnormalities and restricted repetitive behavior in autism spectrum disorder

Blackmon

Ben-Avi

Wang

et al. 2016

NeuroImage: Clinical

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Malformations of cortical development are found at higher rates in autism spectrum disorder (ASD) than in healthy controls on postmortem neuropathological evaluation but are more variably observed on visual review of in-vivo MRI brain scans. This may be due to the visually elusive nature of many malformations on MRI. Here, we utilize a quantitative approach to determine whether a volumetric measure of heterotopic gray matter in the white matter is elevated in people with ASD, relative to typically developing controls (TDC). Data from a primary sample of 48 children/young adults with ASD and 48 age-, and gender-matched TDCs, selected from the Autism Brain Imaging Data Exchange (ABIDE) open-access database, were analyzed to compare groups on (1) blinded review of high-resolution T1-weighted research sequences; and (2) quantitative measurement of white matter hypointensity (WMH) volume calculated from the same T1-weighted scans. Groupwise WMH volume comparisons were repeated in an independent, multi-site sample (80 ASD/80 TDC), also selected from ABIDE. Visual review resulted in equivalent proportions of imaging abnormalities in the ASD and TDC group. However, quantitative analysis revealed elevated periventricular and deep subcortical WMH volumes in ASD. This finding was replicated in the independent, multi-site sample. Periventricular WMH volume was not associated with age but was associated with greater restricted repetitive behaviors on both parent-reported and clinician-rated assessment inventories. Thus, findings demonstrate that periventricular WMH volume is elevated in ASD and associated with a higher degree of repetitive behaviors and restricted interests. Although the etiology of focal WMH clusters is unknown, the absence of age effects suggests that they may reflect a static anomaly.

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“…Of the reviewed studies outlined in Supplementary Table 7, the most common finding for patients with autism was reduced corpus callosum volume (CCV) (Elnakib et al, 2011; Frazier and Hardan, 2009; Haar et al, 2016). Large studies utilising the ABIDE dataset obtained mixed results, with two studies reporting reduced regional CCV (Haar et al, 2016; Katuwal et al, 2016b) and another two studies reporting no difference in CCV (Kucharsky Hiess et al, 2015; Lefebvre et al, 2015), despite all studies using similar methods (FreeSurfer or atlas‐based segmentations of the CC). Reduced CCV was also found to be consistent in children (Nordahl et al, 2015), with CCV found to be associated with intelligence quotient (IQ) (Fredo et al, 2014).…”

Section: Structural Biomarkers Of Asdmentioning

confidence: 99%

A systematic review of structural MRI biomarkers in autism spectrum disorder: A machine learning perspective

Pagnozzi

Conti

Calderoni

et al. 2018

Intl J of Devlp Neuroscience

126

101

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Autism Spectrum Disorder (ASD) affects approximately 1% of the population and leads to impairments in social interaction, communication and restricted, repetitive behaviours. Establishing robust neuroimaging biomarkers of ASD using structural magnetic resonance imaging (MRI) is an important step for diagnosing and tailoring treatment, particularly early in life when interventions can have the greatest effect. However currently, there is mixed findings on the structural brain changes associated with autism. Therefore in this systematic review, recent (post-2007), high-resolution (3 T) MRI studies investigating brain morphology associated with ASD have been collated to identify robust neuroimaging biomarkers of ASD. A systematic search was conducted on three databases; PubMed, Web of Science and Scopus, resulting in 123 reviewed articles. Patients with ASD were observed to have increased whole brain volume, particularly under 6 years of age. Other consistent changes observed in ASD patients include increased volume in the frontal and temporal lobes, increased cortical thickness in the frontal lobe, increased surface area and cortical gyrification, and increased cerebrospinal fluid volume, as well as reduced cerebellum volume and reduced corpus callosum volume, compared to typically developing controls. Findings were inconsistent regarding the developmental trajectory of brain volume and cortical thinning with age in ASD, as well as potential volume differences in the white matter, hippocampus, amygdala, thalamus and basal ganglia. To elucidate these inconsistencies, future studies should look towards aggregating MRI data from multiple sites or available repositories to avoid underpowered studies, as well as utilising methods which quantify larger-scale image features to reduce the number of statistical tests performed, and hence risk of false positive findings. Additionally, studies should look to perform a thorough validation strategy, to ensure generalisability of study findings, as well as look to leverage the improved image resolution of 3 T scanning to identify subtle brain changes related to ASD.

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Corpus Callosum Area and Brain Volume in Autism Spectrum Disorder: Quantitative Analysis of Structural MRI from the ABIDE Database

Cited by 42 publications

References 22 publications

Partitioning heritability analysis reveals a shared genetic basis of brain anatomy and schizophrenia

Partitioning heritability analysis reveals a shared genetic basis of brain anatomy and schizophrenia

Periventricular white matter abnormalities and restricted repetitive behavior in autism spectrum disorder

A systematic review of structural MRI biomarkers in autism spectrum disorder: A machine learning perspective

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