Pubmed du 27/12/21
1. Bigelow LJ, Fiset C, Jarvis JHM, Macleod S, Wöhr M, Benke TA, Bernard PB. Early-life seizures modify behavioral response to ultrasonic vocalization playback in adult rats. Epilepsy & behavior : E&B. 2022; 127: 108494.
Early-life seizures (ELS) are associated with autism spectrum disorder (ASD); however, due to a lack of effective treatments for ELS, it is not clear whether ELS plays a causal role, potentiates the ASD phenotype, or is the result of a common pathophysiology. Deficits in communications are a core feature of ASD. To isolate the impact of ELS on communication, we probed the behavioral consequences of a single episode of kainic acid-induced early-life seizures (KA-ELS) in male and female Sprague-Dawley (CD) rats. Deficits in auditory communication were observed in adult male rats as assessed by behavioral response to ultrasonic vocalization (USV) playback. Ultrasonic vocalizations are classified into two major categories – 50-kHz (positive) calls and 22-kHz (aversive) calls. Behavioral response was assessed via rat preference for different USV playback in a radial arm maze. Response to 22-kHz calls was not impacted by ELS while response to 50-kHz calls was impacted. All rats demonstrated positional preference for the arms adjacent to where 50-kHz calls were playing compared to background noise; however, male ELS rats demonstrated a greater positional preference for the arms adjacent to where 50-kHz calls were playing compared to male control rats. These studies demonstrate that responses to socially relevant auditory cues are chronically altered in adult male rats following a single episode of ELS. We speculate that these changes contribute to previously reported social deficits associated with ELS.
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2. Fairburn DJ, Baiamonte BA, Gray BE, Hernandez KA, Horton JR, Hollander DB. Voluntary exercise attenuates nociceptive abnormalities with no significant alterations of social interaction deficits in the BTBR mouse model of autism. Behavioural brain research. 2022; 420: 113727.
Due to the financial burden and undesired side effects of treatment options, researchers have begun exploring alternative methods of treating autism spectrum disorder (ASD). Based on research suggesting impressive health benefits of engaging in physical activity, exercise treatment to alleviate symptoms could be a more cost effective alternative to pharmaceutical interventions. This study examined the effects of physical exercise on nociceptive responses and social interactions in an autism mouse model (BTBR T(+) Itpr3(tf)/J). Subjects (n = 32) were separated into groups (BTBR vs B6 controls) based on the genetic strain and activity condition they were assigned. When compared to B6 controls, the BTBR mice demonstrated thermal hypoalgesia that normalized following 5 weeks of voluntary wheel running. However, exercise did not significantly attenuate social interaction deficits in BTBR mice, despite scores trending toward a positive direction. These results suggest that exercise could serve as a potential additive to other therapies for abnormal nociception in individuals with Autism Spectrum Disorder.
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3. Feng W, Liu G, Zeng K, Zeng M, Liu Y. A review of methods for classification and recognition of ASD using fMRI data. Journal of neuroscience methods. 2022; 368: 109456.
Autism spectrum disorder (ASD) is a severe neuropsychiatric brain disorder that affects people’s social communication and daily routine. Considering the phenomenon of abnormal brain function in the early stage of ASD, functional magnetic resonance imaging (fMRI), an excellent technique that measures brain activity, provides effective data to study ASD. Therefore, based on fMRI data of ASD cases, this paper reviews the progress of machine learning methods and deep learning methods in ASD classification and recognition in the last three years and summarizes the different research results of fMRI data extracted from the Autism Brain Imaging Data Exchange (ABIDE). From the classification performance of classification and recognition of ASD by the two methods, comparing the important classification indicators such as accuracy, sensitivity and specificity, the current challenges and future development trends are reported, which can provide an essential reference for the early diagnosis of ASD cases.
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4. George H, Bashir ZI, Hussain S. Impaired hippocampal NMDAR-LTP in a transgenic model of NSUN2-deficiency. Neurobiology of disease. 2022; 163: 105597.
Biallelic loss-of-function NSUN2 mutations have recently been associated with cases of Autism Spectrum Condition (ASC), and NSun2-deficiency was also previously shown to cause a severe autosomal recessive intellectually disability disorder syndrome in which patients can sometimes display autistic behaviour. It has been demonstrated that NSUN2 can control protein synthesis rates via direct regulation of RNA methylation, and it is therefore of interest that other studies have suggested protein synthesis-dependent synaptic plasticity dysregulation as a mechanism for learning difficulties in various other autism-expressing conditions and disorders. Here we investigated NMDAR-LTP in a murine transgenic model harbouring loss-of-function mutation in the NSun2 gene and find an impairment of a protein synthesis-dependent form of this synaptic plasticity pathway. Our findings support the idea that NMDAR-LTP mis-regulation may represent a previously underappreciated mechanism associated with autism phenotypes.
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5. Lo Barco T, De Gaetano L, Santangelo E, Bravi T, Proietti J, Cantalupo G, Brambilla I, Darra F. SYNGAP1-related developmental and epileptic encephalopathy: The impact on daily life. Epilepsy & behavior : E&B. 2022; 127: 108500.
SYNGAP1-developmental and epileptic encephalopathy (SYNGAP1-DEE) has been recently featured as a distinct genetic disease characterized by global psychomotor delay mainly involving language, moderate-to-severe cognitive impairment, autism spectrum disorder, and a generalized epilepsy with spontaneous and reflex seizures. The severity and variability of function impairment and the impact on patients’ and caregivers’ daily life are still poorly acknowledged. The SYNGAP1 Italian Family Association developed a survey, shared online with caregivers, exploring several issues, including: epilepsy outcome, comorbidities, daily-living skills, hospitalizations, rehabilitation treatments, economic burden, and COVID-19 pandemic impact. Caregivers of 13 children and adolescents participated in the survey. They most often show a fine and gross-motor impairment and a drug-resistant epilepsy with possibility to experience pluridaily absence seizures that may lead to periods of psychomotor regressions. Eating and sleep problems are reported in the majority. Most parents are concerned about language impairment, behavioral issues and lack of autonomy in daily-living activities. Specific neuropsychological evaluations for autism should be early considered in order to identify intervention strategies involving alternative communication strategies, which can positively affect behavior and quality of life. Rehabilitation treatment should aim to the acquisition and consolidation of personal autonomy.
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6. Yuce Kahraman C, Ercoskun P, Yakar O, Tatar A. A novel genomic variant in two siblings with very low-density lipoprotein receptor-associated cerebellar hypoplasia. Clinical dysmorphology. 2022; 31(2): 98-100.
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7. Zhao L, Xue SW, Sun YK, Lan Z, Zhang Z, Xue Y, Wang X, Jin Y. Altered dynamic functional connectivity of insular subregions could predict symptom severity of male patients with autism spectrum disorder. Journal of affective disorders. 2022; 299: 504-12.
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder characterized by difficulties with social communication and restricted or repetitive patterns of behavior. This disorder was characterized by widespread abnormalities involving distributed brain networks. As one such key network node, the insular cortex has been regarded as a research focus of ASD neuropathology. The insula is a functionally complex brain structure. However, it is not fully clear if dynamic characteristics of resting-state functional magnetic resonance imaging (R-fMRI) signals in insular heterogeneous could be used to depict abnormalities in ASD. To address this question, we investigated dynamic functional connectivity (dFC) of 12 insular subregions. Data were obtained from 44 individuals with ASD and 65 typically developing age-matched controls (TDC). We assessed dFC by sliding-window method and quantified its temporal variability. Multivariable linear regression models were constructed to determine whether dFC support complementary information about symptom severity of individuals with ASD rather than static functional connectivity (sFC). The results showed that individuals with ASD exhibited dFC and sFC alterations in distinct insular subregions. Some brain regions showed only abnormal dFC but not sFC with insular subregions. These abnormal dFC could significantly predict the symptom severity of individuals with ASD. Our findings might advance our knowledge about the potential of insular heterogeneity and dynamic characteristics in understanding the neuropathology mechanism of ASD and in developing neuroimaging biomarkers for clinical applications.
