Neuroimaging-Based Phenotyping of the Autism Spectrum

Bernhardt, Boris C.; Martino, Adriana Di; Valk, Sofie L.; Wallace, Gregory L.

doi:10.1007/7854_2016_438

Cited by 38 publications

(29 citation statements)

References 68 publications

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“…Our structural MRI findings in this model may contradict the widely known "early brain overgrowth" phenotyping efforts in ASD [35][36][37] , although increases in brain volume in high-risk infants may co-occur with excessive extra-axial cerebrospinal fluid (CSF) 5 . Nonetheless, several studies have suggested divergent age effects on brain morphology changes in ASD 36 , with a more rapid age-related cortical thinning in temporal and parietal regions compared to controls 38 . Decreased thickness in the temporal cortex was reported recently from a large multinational sample of the ENIGMA ASD working group, while at the same time, increased cortical thickness in the frontal cortex was found 39 .…”

Section: Asd-like Cerebral and Cerebellar Structural Changescontrasting

confidence: 62%

Purkinje cell number-correlated cerebrocerebellar circuit anomaly in the valproate model of autism

Spisák

Román

Papp

et al. 2018

Preprint

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While cerebellar alterations may play a crucial role in the development of core autism spectrum disorder (ASD) symptoms, their pathophysiology on the function of cerebrocerebellar circuit loops is largely unknown. We combined multimodal MRI (9.4 T) brain assessment of the prenatal rat valproate (VPA) model and correlated immunohistological analysis of the cerebellar Purkinje cell number to address this question.We hypothesized that a suitable functional MRI (fMRI) paradigm might show some altered activity related to disrupted cerebrocerebellar information processing. Two doses of maternal VPA (400 and 600 mg/kg, s.c.) were used, and while the higher VPA dose induced a global decrease in whole brain volume, the lower dose induced a focal gray matter density decrease in the cerebellum and brainstem. Increased cortical BOLD responses to whisker stimulation were detected in both VPA groups, but it was more pronounced and extended to cerebellar regions in the 400 mg/kg VPA group. Immunohistological analysis revealed a decreased number of Purkinje cells in both VPA groups. In a detailed analysis, we revealed that the Purkinje cell number interacts with the cerebral BOLD response distinctively in the two VPA groups that highlights atypical function of the cerebrocerebellar circuit loops with potential translational value as an ASD biomarker.

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Section: Asd-like Cerebral and Cerebellar Structural Changescontrasting

confidence: 62%

Purkinje cell number-correlated cerebrocerebellar circuit anomaly in the valproate model of autism

Spisák

Román

Papp

et al. 2018

Preprint

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“…Collectively, the extensive literature published to date points at the presence of major functional connectivity alterations in ASD populations, although the identified regional patterns vary considerably across studies and patient cohorts (Kana et al, 2011; Müller, 2014; Ecker and Murphy, 2014; Ameis and Catani, 2015; Ecker et al, 2015; Bernhardt et al, 2016; Vasa et al, 2016). Despite this rapidly accumulating evidence, many fundamental questions as to the origin and significance of connectional alterations in ASD remain unanswered.…”

Section: The Connectivity Theory Of Autism: Open Questions and Contromentioning

confidence: 99%

Can Mouse Imaging Studies Bring Order to Autism Connectivity Chaos?

Liska

Gozzi

2016

Front. Neurosci.

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Functional Magnetic Resonance Imaging (fMRI) has consistently highlighted impaired or aberrant functional connectivity across brain regions of autism spectrum disorder (ASD) patients. However, the manifestation and neural substrates of these alterations are highly heterogeneous and often conflicting. Moreover, their neurobiological underpinnings and etiopathological significance remain largely unknown. A deeper understanding of the complex pathophysiological cascade leading to aberrant connectivity in ASD can greatly benefit from the use of model organisms where individual pathophysiological or phenotypic components of ASD can be recreated and investigated via approaches that are either off limits or confounded by clinical heterogeneity. Despite some obvious limitations in reliably modeling the full phenotypic spectrum of a complex developmental disorder like ASD, mouse models have played a central role in advancing our basic mechanistic and molecular understanding of this syndrome. Recent progress in mouse brain connectivity mapping via resting-state fMRI (rsfMRI) offers the opportunity to generate and test mechanistic hypotheses about the elusive origin and significance of connectional aberrations observed in autism. Here we discuss recent progress toward this goal, and illustrate initial examples of how the approach can be employed to establish causal links between ASD-related mutations, developmental processes, and brain connectional architecture. As the spectrum of genetic and pathophysiological components of ASD modeled in the mouse is rapidly expanding, the use of rsfMRI can advance our mechanistic understanding of the origin and significance of the connectional alterations associated with autism, and their heterogeneous expression across patient cohorts.

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“…In the diseases of this group, disturbance of cortical interactions between various parts of the brain is observed; in this connection, the term "developmental disconnection syndrome" became applicable to ASD [5]. However, the ratio between cerebral functions, structure, and associations in different forms of autism and ASD are still poorly explored [6,7]. Neurovisualization investigations facilitate understanding of structural and functional disorders in brain development in ASD [8].…”

Section: Introductionmentioning

confidence: 99%

The Role of Functional MRI in Understanding the Origin of Speech Delay in Autism Spectrum Disorders

Клюев¹,

Sheyko²,

Dunayev³

et al. 2019

Sovrem Tehnol Med

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Autism spectrum disorders (ASD) are disorders of psychic development characterized by the difficulties of social interaction and stereotyped and repetitive patterns of behavior. Rather often they are accompanied by disturbances of speech, intelligence, and adaptive behavior. Pathogenesis of ASD is still poorly studied. MRI with its latest modalities is a modern diagnostic method enabling medical providers to evaluate structural, metabolic, and functional features of brain development in this pathology. The aim of the study was to assess the capabilities of functional MRI (fMRI) in determining pathophysiological mechanisms of delay in speech development in ASD. Materials and Methods. A brief review of international studies is given in the article. Our own results of examining 6 preschool children with one of the ASD forms-early childhood autism and speech disorders, and 6 children of the comparison group without autism and language disturbances are also presented using fMRI and a block design paradigm to analyze speech perception patterns. Results. In all children with normal speech development, bilateral symmetric spread of activation along the cortex of the entire superior temporal gyri was revealed whereas children with autism showed lateralized and limited involvement of the auditory cortex. Sevoflurane anesthesia did not influence the character of auditory zone activation. Conclusion. The possibility of using fMRI with application of the paradigm for speech understanding to study the individual features of brain functioning in children with autism has been demonstrated. The revealed objective instrumental signs of brain activity differences in the children with autism compared to the healthy children allow the fMRI data to be considered as a potential biomarker of this disease. It has also been shown that the possibility to carry out this examination under general anesthesia makes it more acceptable and convenient for patients with childhood autism.

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Neuroimaging-Based Phenotyping of the Autism Spectrum

Cited by 38 publications

References 68 publications

Purkinje cell number-correlated cerebrocerebellar circuit anomaly in the valproate model of autism

Purkinje cell number-correlated cerebrocerebellar circuit anomaly in the valproate model of autism

Can Mouse Imaging Studies Bring Order to Autism Connectivity Chaos?

The Role of Functional MRI in Understanding the Origin of Speech Delay in Autism Spectrum Disorders

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