scholarly journals Resources available for autism research in the big data era: a systematic review

PeerJ ◽  
2017 ◽  
Vol 5 ◽  
pp. e2880 ◽  
Author(s):  
Reem Al-jawahiri ◽  
Elizabeth Milne
Keyword(s):  
Human Brain ◽  
Brain Connectivity ◽  
Open Data ◽  
Autism Spectrum ◽  
Data Types ◽  
Participant Recruitment ◽  
Data Resource ◽  
Autism Research ◽  
Great Heterogeneity ◽  
Google Search

Recently, there has been a move encouraged by many stakeholders towards generating big, open data in many areas of research. One area where big, open data is particularly valuable is in research relating to complex heterogeneous disorders such as Autism Spectrum Disorder (ASD). The inconsistencies of findings and the great heterogeneity of ASD necessitate the use of big and open data to tackle important challenges such as understanding and defining the heterogeneity and potential subtypes of ASD. To this end, a number of initiatives have been established that aim to develop big and/or open data resources for autism research. In order to provide a useful data reference for autism researchers, a systematic search for ASD data resources was conducted using the Scopus database, the Google search engine, and the pages on ‘recommended repositories’ by key journals, and the findings were translated into a comprehensive list focused on ASD data. The aim of this review is to systematically search for all available ASD data resources providing the following data types: phenotypic, neuroimaging, human brain connectivity matrices, human brain statistical maps, biospecimens, and ASD participant recruitment. A total of 33 resources were found containing different types of data from varying numbers of participants. Description of the data available from each data resource, and links to each resource is provided. Moreover, key implications are addressed and underrepresented areas of data are identified.

scholarly journals Genes involved in cholesterol cascades are linked to brain connectivity in one third of autistic patients

2020 ◽  
Author(s):  
Javier Rasero ◽  
Antonio Jimenez-Marin ◽  
Ibai Diez ◽  
Mazahir T. Hasan ◽  
Jesus M. Cortes
Keyword(s):  
Human Brain ◽  
Large Scale ◽  
Functional Neuroimaging ◽  
Brain Connectivity ◽  
Autism Spectrum ◽  
The Other ◽  
Brain Atlas ◽  
Consensus Clustering ◽  
Major Drawback ◽  
Large Populations

AbstractThe large heterogeneity in the symptomatology and severity of autism spectrum disorder (ASD) is a major drawback for the design of effective therapies. Beyond behavioral phenotypes, subtype stratification strategies that can be applied to large populations are needed, these combining different neurobiological characteristics and based on the large-scale organization of the human brain, as well as neurogenetic fingerprints. Here, we make use of ABIDE, the largest publicly available database of functional neuroimaging in ASD, to which we have applied rigorous data harmonization between the different scanning institutions in order to employ analyses based on consensus clustering and to evaluate the patterns of brain connectivity. As a result, we identified three subtypes of ASD, the first of which was characterized by a mixture of hyper- and hypo-connectivity, stronger network segregation and weaker integration, and it represented approximately 13% of all patients. The second subtype was associated with 31% of the patients, and it was characterized by hyperconnectivity but no topological differences with respect to the group of typically developing controls. The third was the most numerous subtype, assigned to 52% of all patients, and it was characterized by hypoconnectivity, decreased network segregation and increased integration. We also defined a neurobiological signature for each of these subtypes, detailing the connectivity and structures most specific to each subtype. Strikingly, at the behavioral level, none of the neuropsychological scores used in the diagnosis of ASD is capable of differentiating any of the subtypes from the other two. Finally, we use the Allen Human Brain Atlas of gene transcription brain maps to show that subtype 2 has an extraordinary enrichment in biological processes related to the synthesis, regulation and transport of cholesterol and other lipoproteins, one of the mechanisms previously attributed to ASD. We also show that this lipid-susceptible ASD subtype could be represented by the dysfunctionality of the network, unlike the other two subtypes that have more structural alterations in the connectome. Thus, our study provide compelling support for prospects of cholesterol-related therapies in this subset of autistic individuals.

Influence of Primary Auditory Cortex in the Characterization of Autism Spectrum in Young Adults using Brain Connectivity Parameters and Deep Belief Networks: An fMRI Study

2020 ◽  
Vol 16 (9) ◽  
pp. 1059-1073
Author(s):  
Vidhusha Srinivasan ◽  
N. Udayakumar ◽  
Kavitha Anandan
Keyword(s):  
Functional Connectivity ◽  
Auditory Cortex ◽  
Language Processing ◽  
Brain Connectivity ◽  
Primary Auditory Cortex ◽  
Autism Spectrum ◽  
Belief Networks ◽  
Deep Belief Networks ◽  
High Functioning ◽  
Low Functioning

Background: The spectrum of autism encompasses High Functioning Autism (HFA) and Low Functioning Autism (LFA). Brain mapping studies have revealed that autism individuals have overlaps in brain behavioural characteristics. Generally, high functioning individuals are known to exhibit higher intelligence and better language processing abilities. However, specific mechanisms associated with their functional capabilities are still under research. Objective: This work addresses the overlapping phenomenon present in autism spectrum through functional connectivity patterns along with brain connectivity parameters and distinguishes the classes using deep belief networks. Methods: The task-based functional Magnetic Resonance Images (fMRI) of both high and low functioning autistic groups were acquired from ABIDE database, for 58 low functioning against 43 high functioning individuals while they were involved in a defined language processing task. The language processing regions of the brain, along with Default Mode Network (DMN) have been considered for the analysis. The functional connectivity maps have been plotted through graph theory procedures. Brain connectivity parameters such as Granger Causality (GC) and Phase Slope Index (PSI) have been calculated for the individual groups. These parameters have been fed to Deep Belief Networks (DBN) to classify the subjects under consideration as either LFA or HFA. Results: Results showed increased functional connectivity in high functioning subjects. It was found that the additional interaction of the Primary Auditory Cortex lying in the temporal lobe, with other regions of interest complimented their enhanced connectivity. Results were validated using DBN measuring the classification accuracy of 85.85% for high functioning and 81.71% for the low functioning group. Conclusion: Since it is known that autism involves enhanced, but imbalanced components of intelligence, the reason behind the supremacy of high functioning group in language processing and region responsible for enhanced connectivity has been recognized. Therefore, this work that suggests the effect of Primary Auditory Cortex in characterizing the dominance of language processing in high functioning young adults seems to be highly significant in discriminating different groups in autism spectrum.

scholarly journals Application of Airy beam light sheet microscopy to examine early neurodevelopmental structures in 3D hiPSC-derived human cortical spheroids

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Dwaipayan Adhya ◽  
George Chennell ◽  
James A. Crowe ◽  
Eva P. Valencia-Alarcón ◽  
James Seyforth ◽  
...  
Keyword(s):  
High Resolution ◽  
Human Brain ◽  
Light Sheet ◽  
Autism Spectrum ◽  
Model Systems ◽  
Large Field ◽  
Autism Spectrum Conditions ◽  
Patient Specific ◽  
Airy Beam

Abstract Background The inability to observe relevant biological processes in vivo significantly restricts human neurodevelopmental research. Advances in appropriate in vitro model systems, including patient-specific human brain organoids and human cortical spheroids (hCSs), offer a pragmatic solution to this issue. In particular, hCSs are an accessible method for generating homogenous organoids of dorsal telencephalic fate, which recapitulate key aspects of human corticogenesis, including the formation of neural rosettes—in vitro correlates of the neural tube. These neurogenic niches give rise to neural progenitors that subsequently differentiate into neurons. Studies differentiating induced pluripotent stem cells (hiPSCs) in 2D have linked atypical formation of neural rosettes with neurodevelopmental disorders such as autism spectrum conditions. Thus far, however, conventional methods of tissue preparation in this field limit the ability to image these structures in three-dimensions within intact hCS or other 3D preparations. To overcome this limitation, we have sought to optimise a methodological approach to process hCSs to maximise the utility of a novel Airy-beam light sheet microscope (ALSM) to acquire high resolution volumetric images of internal structures within hCS representative of early developmental time points. Results Conventional approaches to imaging hCS by confocal microscopy were limited in their ability to image effectively into intact spheroids. Conversely, volumetric acquisition by ALSM offered superior imaging through intact, non-clarified, in vitro tissues, in both speed and resolution when compared to conventional confocal imaging systems. Furthermore, optimised immunohistochemistry and optical clearing of hCSs afforded improved imaging at depth. This permitted visualization of the morphology of the inner lumen of neural rosettes. Conclusion We present an optimized methodology that takes advantage of an ALSM system that can rapidly image intact 3D brain organoids at high resolution while retaining a large field of view. This imaging modality can be applied to both non-cleared and cleared in vitro human brain spheroids derived from hiPSCs for precise examination of their internal 3D structures. This process represents a rapid, highly efficient method to examine and quantify in 3D the formation of key structures required for the coordination of neurodevelopmental processes in both health and disease states. We posit that this approach would facilitate investigation of human neurodevelopmental processes in vitro.

scholarly journals Sex Differences in Functional Connectivity Between Resting State Brain Networks in Autism Spectrum Disorder

2021 ◽  
Author(s):  
Vânia Tavares ◽  
Luís Afonso Fernandes ◽  
Marília Antunes ◽  
Hugo Ferreira ◽  
Diana Prata
Keyword(s):  
Autism Spectrum Disorder ◽  
Sex Differences ◽  
Resting State ◽  
Brain Connectivity ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Control Networks ◽  
Highly Sensitive ◽  
Female Specific ◽  
Main Effects

AbstractFunctional brain connectivity (FBC) has previously been examined in autism spectrum disorder (ASD) between-resting-state networks (RSNs) using a highly sensitive and reproducible hypothesis-free approach. However, results have been inconsistent and sex differences have only recently been taken into consideration using this approach. We estimated main effects of diagnosis and sex and a diagnosis by sex interaction on between-RSNs FBC in 83 ASD (40 females/43 males) and 85 typically developing controls (TC; 43 females/42 males). We found increased connectivity between the default mode (DM) and (a) the executive control networks in ASD (vs. TC); (b) the cerebellum networks in males (vs. females); and (c) female-specific altered connectivity involving visual, language and basal ganglia (BG) networks in ASD—in suggestive compatibility with ASD cognitive and neuroscientific theories.

scholarly journals General Anesthesia and Human Brain Connectivity

2012 ◽  
Vol 2 (6) ◽  
pp. 291-302 ◽  
Author(s):  
Anthony G. Hudetz
Keyword(s):  
Human Brain ◽  
General Anesthesia ◽  
Brain Connectivity

scholarly journals Diffusion tensor-based fast marching for modeling human brain connectivity network

2011 ◽  
Vol 35 (3) ◽  
pp. 167-178 ◽  
Author(s):  
Hai Li ◽  
Zhong Xue ◽  
Kemi Cui ◽  
Stephen T.C. Wong
Keyword(s):  
Human Brain ◽  
Diffusion Tensor ◽  
Brain Connectivity ◽  
Fast Marching

scholarly journals Evolutionary modifications in human brain connectivity associated with schizophrenia

Brain ◽  
2019 ◽  
Vol 142 (12) ◽  
pp. 3991-4002 ◽  
Author(s):  
Martijn P van den Heuvel ◽  
Lianne H Scholtens ◽  
Siemon C de Lange ◽  
Rory Pijnenburg ◽  
Wiepke Cahn ◽  
...  
Keyword(s):  
Human Brain ◽  
Brain Connectivity ◽  
Brain Evolution ◽  
Higher Order ◽  
Brain Functions ◽  
Human Brain Evolution ◽  
The Brain

See Vértes and Seidlitz (doi:10.1093/brain/awz353) for a scientific commentary on this article. Is schizophrenia a by-product of human brain evolution? By comparing the human and chimpanzee connectomes, van den Heuvel et al. demonstrate that connections unique to the human brain show greater involvement in schizophrenia pathology. Modifications in service of higher-order brain functions may have rendered the brain more vulnerable to dysfunction.

scholarly journals A causal study of bumetanide on a marker of excitatory-inhibitory balance in the human brain

2020 ◽  
Author(s):  
Thomas L. Botch ◽  
Alina Spiegel ◽  
Catherine Ricciardi ◽  
Caroline E. Robertson
Keyword(s):  
Human Brain ◽  
Binocular Rivalry ◽  
Response Times ◽  
Autism Spectrum ◽  
Autism Spectrum Conditions ◽  
Placebo Control ◽  
Acute Administration ◽  
Neural Processes ◽  
Within Subjects ◽  
The Brain

AbstractBumetanide has received much interest as a potential pharmacological modulator of the putative imbalance in excitatory/inhibitory (E/I) signaling that is thought to characterize autism spectrum conditions. Yet, currently, no studies of bumetanide efficacy have used an outcome measure that is modeled to depend on E/I balance in the brain. In this manuscript, we present the first causal study of the effect of bumetanide on an objective marker of E/I balance in the brain, binocular rivalry, which we have previously shown to be sensitive to pharmacological manipulation of GABA. Using a within-subjects placebo-control crossover design study, we show that, contrary to expectation, acute administration of bumetanide does not alter binocular rivalry dynamics in neurotypical adult individuals. Neither changes in response times nor response criteria can account for these results. These results raise important questions about the efficacy of acute bumetanide administration for altering E/I balance in the human brain, and highlight the importance of studies using objective markers of the underlying neural processes that drugs hope to target.

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