Pubmed du 20/05/20

mercredi 20 mai 2020

1. On the occasion of World Autism Awareness Day 2020. Bulletin de l’Academie nationale de medecine. 2020.

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2. Ben Jdila M, Charfi Triki C, Ghorbel R, Bouchalla W, Ben Ncir S, Kamoun F, Fakhfakh F. Unusual double mutation in MECP2and CDKL5 genes in Rett-like Syndrome : correlation with phenotype and genes expression. Clin Chim Acta. 2020.

INTRODUCTION : Rett syndrome (RTT) is a neuro-developmental disorder affecting almost exclusively females and it divided into classical and atypical forms of the disease. RTT-like syndrome was also described and presents an overlapping phenotype of RTT. RTT-like syndrome has been associated with several genes including MECP2 and CDKL5 having common biological pathways and regulatory interactions especially during neural maturation and synaptogenesis. METHODS : We report patient with Rett-like syndrome for whom clinical features and their progression guided toward the screening of two candidate genes MECP2 and CDKL5 by sequencing. Severity score was evaluated by "Rett Assessment Rating Scale" (R.A.R.S.). Predictions of pahogenicity and functional effects used several bioinformatic tools and qRT-PCR was conducted to evaluate gene expression. RESULTS : Mutational screening revealed two mutations c.1065 C>A (p.S355R) in MECP2 gene and c.616 G>A (p.D206N) mutation in CDKL5 gene in the patient with a high R.A.R.S. Bioinformatic investigations predicted a moderate effect of p.S355R in MECP2 gene but a more pathogenic one of p.D206N mutation in CDKL5. Effect of c.616 G>A mutation on structure and stability of CDKL5 mRNA was confirmed by qRT-PCR. Additionally, analysis of gene expression revealed a drastic effect of CDKL5 mutant on its MeCP2 and Dnmt1 substrates and also on its MYCN regulator. CONCLUSIONS : The co-existence of the two mutations in CDKL5 and MECP2 genes could explain the severe phenotype in our patient with RTT-Like and is consistent with the data related to the interactions of CDKL5 with MeCP2 and Dnmt1 proteins.

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3. Cicaloni V, Pecorelli A, Tinti L, Rossi M, Benedusi M, Cervellati C, Spiga O, Santucci A, Hayek J, Salvini L, Tinti C, Valacchi G. Proteomic profiling reveals mitochondrial alterations in Rett syndrome. Free radical biology & medicine. 2020.

Rett syndrome (RTT) is a pervasive neurodevelopmental disorder associated with mutation in MECP2 gene. Despite a well-defined genetic cause, there is a growing consensus that a metabolic component could play a pivotal role in RTT pathophysiology. Indeed, perturbed redox homeostasis and inflammation, i.e. oxinflammation, with mitochondria dysfunction as the central hub between the two phenomena, appear as possible key contributing factors to RTT pathogenesis and its clinical features. While these RTT-related changes have been widely documented by transcriptomic profiling, proteomics studies supporting these evidences are still limited. Here, using primary dermal fibroblasts from control and patients, we perform a large-scale proteomic analysis that, together with data mining approaches, allow us to carry out the first comprehensive characterization of RTT cellular proteome, showing mainly changes in expression of proteins involved in the mitochondrial network. These findings parallel with an altered expression of key mediators of mitochondrial dynamics and mitophagy associated with abnormal mitochondrial morphology. In conclusion, our proteomic analysis confirms the pathological relevance of mitochondrial dysfunction in RTT pathogenesis and progression.

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4. Crompton CJ, Ropar D, Evans-Williams CV, Flynn EG, Fletcher-Watson S. Autistic peer-to-peer information transfer is highly effective. Autism. 2020 : 1362361320919286.

Sharing information with other people relies on the ability to communicate well. Autism is defined clinically by deficits in social communication. It may therefore be expected that autistic people find it difficult to share information with other people. We wanted to find out whether this was the case, and whether it was different when autistic people were sharing information with other autistic people or with non-autistic people. We recruited nine groups, each with eight people. In three of the groups, everyone was autistic ; in three of the groups, everyone was non-autistic ; and three of the groups were mixed groups where half the group was autistic and half the group was non-autistic. We told one person in each group a story and asked them to share it with another person, and for that person to share it again and so on, until everyone in the group had heard the story. We then looked at how many details of the story had been shared at each stage. We found that autistic people share information with other autistic people as well as non-autistic people do with other non-autistic people. However, when there are mixed groups of autistic and non-autistic people, much less information is shared. Participants were also asked how they felt they had got on with the other person in the interaction. The people in the mixed groups also experienced lower rapport with the person they were sharing the story with. This finding is important as it shows that autistic people have the skills to share information well with one another and experience good rapport, and that there are selective problems when autistic and non-autistic people are interacting.

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5. Eshraghi AA, Li C, Alessandri M, Messinger DS, Eshraghi RS, Mittal R, Armstrong FD. COVID-19 : overcoming the challenges faced by individuals with autism and their families. Lancet Psychiatry. 2020 ; 7(6) : 481-3.

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6. Feaster D, Franzen A. From stigma to acceptance : Intellectual and developmental disabilities in Central China. Journal of intellectual disabilities : JOID. 2020 : 1744629520923264.

Children with intellectual and developmental disabilities have historically been at high risk for social exclusion and other vulnerabilities. The Western world has shifted away from institutionally-based services and toward community-based services that allow for greater social inclusion as well as for meeting individual developmental needs, and China is beginning the process of exploring how to make this shift. In 2014 and 2015, a situation analysis examining the lived experiences of parents of children with disabilities in Zhengzhou, Henan, China, was undertaken. Perceptions of strengths, needs, opportunities, and barriers experienced by parents of children in intact families (i.e. families where children with disabilities remain in their birth families) were explored by means of parent interviews and focus groups. Families identify experiences of stigma and acceptance related to traditional and alternative social constructions of intellectual and developmental disabilities, and how they use social networks and information-sharing to help develop community-based services.

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7. Fusar-Poli L, Ciancio A, Gabbiadini A, Meo V, Patania F, Rodolico A, Saitta G, Vozza L, Petralia A, Signorelli MS, Aguglia E. Self-Reported Autistic Traits Using the AQ : A Comparison between Individuals with ASD, Psychosis, and Non-Clinical Controls. Brain Sci. 2020 ; 10(5).

The term "autism" was originally coined by Eugen Bleuler to describe one of the core symptoms of schizophrenia. Even if autism spectrum disorder (ASD) and schizophrenia spectrum disorders (SSD) are now considered two distinct conditions, they share some clinical features. The present study aimed to investigate self-reported autistic traits in individuals with ASD, SSD, and non-clinical controls (NCC), using the Autism-Spectrum Quotient (AQ), a 50-item questionnaire. The study was conducted in the Psychiatry Unit of Policlinico "G. Rodolico", Catania, Italy. The AQ was administered to 35 adults with ASD, 64 with SSD, and 198 NCC. Overall, our data showed that the ASD sample scored significantly higher than NCC. However, no significant differences were detected between individuals with ASD and SSD. Notably, the three groups scored similarly in the subscale "attention to detail". AQ showed good accuracy in differentiating ASD from NCC (AUC = 0.84), while discriminant ability was poor in the clinical sample (AUC = 0.63). Finally, AQ did not correlate with clinician-rated ADOS-2 scores in the ASD sample. Our study confirms that symptoms are partially overlapping in adults with ASD and psychosis. Moreover, they raise concerns regarding the usefulness of AQ as a screening tool in clinical populations.

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8. Ide M, Atsumi T, Chakrabarty M, Yaguchi A, Umesawa Y, Fukatsu R, Wada M. Neural Basis of Extremely High Temporal Sensitivity : Insights From a Patient With Autism. Front Neurosci. 2020 ; 14 : 340.

The human brain is sensitive to incoming sensory information across multiple time scales. Temporal scales of information represented in the brain generally constrain behavior. Despite reports of the neural correlates of millisecond timing, how the human brain processes sensory stimuli in the sub-second range (≤100 ms) and its behavioral implications are areas of active scientific inquiry. An autism spectrum disorder (ASD) patient showed a tactile discrimination threshold of 6.49 ms on a temporal order judgment (TOJ) task which was approximately 10-fold superior than other ASD and healthy controls (59 and 69 ms, respectively). To investigate the brain regions of this extremely high temporal resolution in the patient, we used functional magnetic resonance imaging (fMRI) during TOJ. We observed greater activity notably in the left superior temporal gyrus (STG) and precentral gyrus (PrG) compared to that of controls. Generally, the left superior frontal gyrus (SFG) correlated positively, while the opercular part of right inferior frontal gyrus (IFG) correlated negatively, with the correct TOJ rate across all subjects (the patient + 22 healthy controls). We found that the performance was negatively correlated with the strength of neural responses in the right IFG overall in 30 participants (the patient + 22 healthy and 7 ASD controls). Our data reveal superior ability of this particular case of ASD in the millisecond scale for sensory inputs. We highlight several neural correlates of TOJ underlying the facilitation and/or inhibition of temporal resolution in humans.

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9. Kondo HM, Lin IF. Excitation-inhibition balance and auditory multistable perception are correlated with autistic traits and schizotypy in a non-clinical population. Sci Rep. 2020 ; 10(1) : 8171.

Individuals with autism spectrum disorder and individuals with schizophrenia have impaired social and communication skills. They also have altered auditory perception. This study investigated autistic traits and schizotypy in a non-clinical population as well as the excitation-inhibition (EI) balance in different brain regions and their auditory multistable perception. Thirty-four healthy participants were assessed by the Autism-Spectrum Quotient (AQ) and Schizotypal Personality Questionnaire (SPQ). The EI balance was evaluated by measuring the resting-state concentrations of glutamate-glutamine (Glx) and ϒ-aminobutyric acid (GABA) in vivo by using magnetic resonance spectroscopy. To observe the correlation between their traits and perception, we conducted an auditory streaming task and a verbal transformation task, in which participants reported spontaneous perceptual switching while listening to a sound sequence. Their AQ and SPQ scores were positively correlated with the Glx/GABA ratio in the auditory cortex but not in the frontal areas. These scores were negatively correlated with the number of perceptual switches in the verbal transformation task but not in the auditory streaming task. Our results suggest that the EI balance in the auditory cortex and the perceptual formation of speech are involved in autistic traits and schizotypy.

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10. Lake JK, Tablon Modica P, Chan V, Weiss JA. Considering efficacy and effectiveness trials of cognitive behavioral therapy among youth with autism : A systematic review. Autism. 2020 : 1362361320918754.

Cognitive behavioral therapy is a common treatment for emotional problems in people with autism. Most studies of cognitive behavioral therapy and autism have focused on efficacy, meaning whether a treatment produces results under "ideal" conditions, like a lab or research setting. Effectiveness trials, by contrast, investigate whether a treatment produces results under "real-world" conditions, like a community setting (e.g. hospital, community mental health center, school). There can be challenges in bringing a cognitive behavioral therapy treatment out of a lab or research setting into the community, and the field of implementation science uses frameworks to help guide researchers in this process. In this study, we reviewed efficacy and effectiveness studies of cognitive behavioral therapy treatments for emotional problems (e.g. anxiety, depression) in children and youth with autism. Our search found 2959 articles, with 33 studies meeting our criteria. In total, 13 studies were labelled as effectiveness and 20 as efficacy. We discuss how the effectiveness studies used characteristics of an implementation science framework, such as studying how individuals learn about the treatment, accept or reject it, how it is used in the community over time, and any changes that happened to the individual or the organization (e.g. hospital, school, community mental health center) because of it. Results help us better understand the use of cognitive behavioral therapy in the community, including how a framework can be used to improve effectiveness studies.

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11. Lenart J, Augustyniak J, Lazarewicz JW, Zieminska E. Altered expression of glutamatergic and GABAergic genes in the valproic acid-induced rat model of autism : A screening test. Toxicology. 2020 ; 440 : 152500.

Autism spectrum disorders (ASD) include neurodevelopmental disorders in which behavioral deficits can result from neuronal imbalance of excitation to inhibition (E/I) in the brain. Here we used RT-qPCR to screen for the expression of 99 genes associated with excitatory (glutamatergic) and inhibitory (GABAergic) neurotransmission in the cerebral cortex, hippocampus and cerebellum of rats in an established VPA model of ASD. The largest changes in the expression of glutamatergic genes were found in the cerebral cortex, where 12 genes including these encoding some of the subunits of the ionotropic glutamate receptors, were upregulated, while 2 genes were downregulated. The expression of genes encoding the presynaptic glutamatergic proteins vGluT1 and mGluR7 and PKA, involved in downstream glutamatergic signaling, was elevated more than 100-fold. Changes in GABAergic gene expression were found in the cortex, cerebellum and hippocampus ; 3 genes were upregulated, and 3 were downregulated. In conclusion, these results revealed that, in the ASD model, several glutamatergic genes in the rat cerebral cortex were upregulated, which contrasts with small and balanced changes in the expression of GABAergic genes. The VPA rat model, useful in studying the molecular basis of ASD, may be suitable for testing experimental therapies in these disabilities.

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12. Levin AR, Naples AJ, Scheffler AW, Webb SJ, Shic F, Sugar CA, Murias M, Bernier RA, Chawarska K, Dawson G, Faja S, Jeste S, Nelson CA, McPartland JC, Şentürk D. Day-to-Day Test-Retest Reliability of EEG Profiles in Children With Autism Spectrum Disorder and Typical Development. Frontiers in integrative neuroscience. 2020 ; 14 : 21.

Biomarker development is currently a high priority in neurodevelopmental disorder research. For many types of biomarkers (particularly biomarkers of diagnosis), reliability over short periods is critically important. In the field of autism spectrum disorder (ASD), resting electroencephalography (EEG) power spectral densities (PSD) are well-studied for their potential as biomarkers. Classically, such data have been decomposed into pre-specified frequency bands (e.g., delta, theta, alpha, beta, and gamma). Recent technical advances, such as the Fitting Oscillations and One-Over-F (FOOOF) algorithm, allow for targeted characterization of the features that naturally emerge within an EEG PSD, permitting a more detailed characterization of the frequency band-agnostic shape of each individual’s EEG PSD. Here, using two resting EEGs collected a median of 6 days apart from 22 children with ASD and 25 typically developing (TD) controls during the Feasibility Visit of the Autism Biomarkers Consortium for Clinical Trials, we estimate test-retest reliability based on the characterization of the PSD shape in two ways : (1) Using the FOOOF algorithm we estimate six parameters (offset, slope, number of peaks, and amplitude, center frequency and bandwidth of the largest alpha peak) that characterize the shape of the EEG PSD ; and (2) using nonparametric functional data analyses, we decompose the shape of the EEG PSD into a reduced set of basis functions that characterize individual power spectrum shapes. We show that individuals exhibit idiosyncratic PSD signatures that are stable over recording sessions using both characterizations. Our data show that EEG activity from a brief 2-min recording provides an efficient window into characterizing brain activity at the single-subject level with desirable psychometric characteristics that persist across different analytical decomposition methods. This is a necessary step towards analytical validation of biomarkers based on the EEG PSD and provides insights into parameters of the PSD that offer short-term reliability (and thus promise as potential biomarkers of trait or diagnosis) vs. those that are more variable over the short term (and thus may index state or other rapidly dynamic measures of brain function). Future research should address the longer-term stability of the PSD, for purposes such as monitoring development or response to treatment.

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13. Lin G, Cui Y, Zeng J, Huang L. The Effect of Autistic Traits on Social Orienting in Typically Developing Individuals. Front Psychol. 2020 ; 11 : 794.

Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder characterized by wide ranging and heterogeneous changes in social and cognitive abilities, including deficits in orienting attention during early processing of stimuli. Investigators have found that there is a continuum of autism-like traits in the general population, suggesting that these autistic traits may be examined in the absence of clinically diagnosed autism. To provide evidence for the continuum of autistic traits in terms of social attention and to provide insights into social attention deficits in people with autism, the current study was conducted to examine the effect of autistic traits of typically developing individuals on social orienting using a spatial cueing paradigm. The typically developing individuals who participated in this study were divided into high autistic traits (HA) and low autistic traits groups using the Autism Quotient scale. All participants completed a spatial cueing task in which social cues (gaze) and non-social cues (arrow) were presented under different cue predictability conditions (predictive vs. non-predictive) with different SOAs (100 ms vs. 400 ms). The results showed that compared to low autistic individuals, high autistic individuals had less benefit from non-predictive social cues but greater benefit from non-social ones, providing evidence that such spatial attention impairment in high autistic individuals is specific to the social domain. Interestingly, the smaller benefit from non-predictive social cues in high autistic individuals was shown only in the 400 ms condition, not in the 100 ms condition, suggesting that their difficulties in orienting to non-predictive social cues may be caused by a deficiency in spontaneously effortful control processing.

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14. Lord C, McCauley JB, Pepa LA, Huerta M, Pickles A. Work, living, and the pursuit of happiness : Vocational and psychosocial outcomes for young adults with autism. Autism. 2020 : 1362361320919246.

It is important to better understand how adults with autism are functioning in adulthood. Studies that have tracked individuals across the lifespan can help identify developmental factors influence differences in adult outcomes. The present study examines the independence, well-being, and functioning of 123 adults that have been closely followed since early childhood. Autism diagnosis and cognitive assessments were given frequently throughout childhood and during adulthood. We examined differences between adults who had received an autism diagnosis at some point with higher cognitive abilities (Ever ASD-High IQ) and lower cognitive abilities (Ever ASD-Low IQ), as well as adults who never received a diagnosis of autism in the course of the study (Never ASD). We found that autistic features specifically related to adaptive skills and friendships, and verbal intelligence related to work outcomes. In many ways, the Never ASD group had similar outcomes compared to the ASD groups. However, adults with ASD tended to have lower well-being and fewer positive emotions. Families played a major role in supporting adults with and without ASD at all intellectual levels. The findings suggest that realistic ways of increasing independence need to be developed by working with adults and their families, while acknowledging the contribution of individual differences in mental health, intelligence and autism symptoms across neurodevelopmental disorders.

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15. Magdalena H, Beata K, Justyna P, Agnieszka KG, Szczepara-Fabian M, Buczek A, Ewa EW. Preconception Risk Factors for Autism Spectrum Disorder - A Pilot Study. Brain Sci. 2020 ; 10(5).

Autism spectrum disorder (ASD) is a neurodevelopmental disorder of multifactorial etiology. Preconception risk factors are still poorly understood. A survey on preconception risk factors for ASD was conducted among parents of 121 ASD patients aged 3-12 years and parents of 100 healthy children aged 3-12 years. The exclusion criteria were as follows : the presence of associated problems such as intellectual disability, epilepsy or other genetic and neurological diseases. Thirteen parameters were considered, a few among which were conception problems, conception with assisted reproductive techniques, the use and duration of oral contraception, the number of previous pregnancies and miscarriages, time since the previous pregnancy (in months), the history of mental illness in the family (including ASD), other chronic diseases in the mother or father and maternal and paternal treatment in specialist outpatient clinics. Three factors statistically significantly increased the risk of developing ASD : mental illness in the mother/mother’s family (35.54% vs. 16.0%, p = 0.0002), maternal thyroid disease (16.67% vs. 5.0%, p = 0.009) and maternal oral contraception (46.28% vs. 29.0%, p = 0.01). Children of mothers with thyroid disorders or with mental illness in relatives should be closely monitored for ASD. Further studies are warranted to assess a potential effect of oral contraception on the development of offspring.

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16. McCamphill PK, Stoppel LJ, Senter RK, Lewis MC, Heynen AJ, Stoppel DC, Sridhar V, Collins KA, Shi X, Pan JQ, Madison J, Cottrell JR, Huber KM, Scolnick EM, Holson EB, Wagner FF, Bear MF. Selective inhibition of glycogen synthase kinase 3α corrects pathophysiology in a mouse model of fragile X syndrome. Science translational medicine. 2020 ; 12(544).

Fragile X syndrome is caused by FMR1 gene silencing and loss of the encoded fragile X mental retardation protein (FMRP), which binds to mRNA and regulates translation. Studies in the Fmr1(-/y) mouse model of fragile X syndrome indicate that aberrant cerebral protein synthesis downstream of metabotropic glutamate receptor 5 (mGluR5) signaling contributes to disease pathogenesis, but clinical trials using mGluR5 inhibitors were not successful. Animal studies suggested that treatment with lithium might be an alternative approach. Targets of lithium include paralogs of glycogen synthase kinase 3 (GSK3), and nonselective small-molecule inhibitors of these enzymes improved disease phenotypes in a fragile X syndrome mouse model. However, the potential therapeutic use of GSK3 inhibitors has been hampered by toxicity arising from inhibition of both α and β paralogs. Recently, we developed GSK3 inhibitors with sufficient paralog selectivity to avoid a known toxic consequence of dual inhibition, that is, increased β-catenin stabilization. We show here that inhibition of GSK3α, but not GSK3β, corrected aberrant protein synthesis, audiogenic seizures, and sensory cortex hyperexcitability in Fmr1(-/y) mice. Although inhibiting either paralog prevented induction of NMDA receptor-dependent long-term depression (LTD) in the hippocampus, only inhibition of GSK3α impaired mGluR5-dependent and protein synthesis-dependent LTD. Inhibition of GSK3α additionally corrected deficits in learning and memory in Fmr1(-/y) mice ; unlike mGluR5 inhibitors, there was no evidence of tachyphylaxis or enhanced psychotomimetic-induced hyperlocomotion. GSK3α selective inhibitors may have potential as a therapeutic approach for treating fragile X syndrome.

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17. Nakaoka K, Takabatake S, Tateyama K, Kurasawa S, Tanba H, Ishii R, Higashi Y, Kaneda T. Structural validity of the mealtime behaviour questionnaire for children with autism spectrum disorder in Japan. Journal of physical therapy science. 2020 ; 32(5) : 352-8.

[Purpose] Children with autism spectrum disorder (ASD) exhibit many problematic mealtime behaviours. Currently, there is no process for measuring the mealtime behaviours of children with ASD in Japan. Therefore, we developed the ASD-Mealtime Behaviour Questionnaire (ASD-MBQ) using the results of surveys measuring problematic mealtime behaviours in Japanese children with ASD aged 3-18 years. The objective of this study was to analyse the structural validity of the ASD-MBQ in Japan. [Participants and Methods] We recruited 378 children with ASD aged 3-18 years and performed a confirmatory factor analysis on the ASD-MBQ by using a five-factor structure. [Results] The confirmatory factor analysis demonstrated structural validity (χ(2)=796.5, degrees of freedom=265, comparative fit index=0.901, root mean square error of approximation [90% confidence interval]=0.073 [0.067-0.079]). [Conclusion] We have demonstrated the structural validity of the ASD-MBQ, which provided useful information for planning interventions and evaluations for children with ASD. Further studies need to consider cut-off score by age and inter-rater reliability.

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18. Pellecchia M, Beidas RS, Lawson G, Williams NJ, Seidman M, Kimberly JR, Cannuscio CC, Mandell DS. Does implementing a new intervention disrupt use of existing evidence-based autism interventions ?. Autism. 2020 : 1362361320919248.

Interventions for children with autism spectrum disorder are complex and often are not implemented successfully within schools. When new practices are introduced in schools, they often are layered on top of existing practices, with little attention paid to how introducing new practices affects the use of existing practices. This study evaluated how introducing a computer-assisted intervention, called TeachTown:Basics, affected the use of other evidence-based practices in autism support classrooms. We compared how often teachers reported using a set of evidence-based practices in classrooms that either had access to TeachTown:Basics or did not have the program. We found that teachers who had access to the computer-assisted intervention reported using the other evidence-based practices less often as the school year progressed. Teachers also reported that they liked the computer-assisted intervention, found it easy to use, and that it helped overcome challenges to implementing other evidence-based practices. This is important because the computer-assisted intervention did not improve child outcomes in a previous study and indicates that teachers may use interventions that are appealing and easier to implement, even when they do not have evidence to support their effectiveness. These findings support the idea of interventions’ complexity and how well the intervention fits within the classroom affect how teachers use it and highlight the need to develop school-based interventions that both appeal to the practitioner and improve child outcomes.

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19. Robea MA, Luca AC, Ciobica A. Relationship between Vitamin Deficiencies and Co-Occurring Symptoms in Autism Spectrum Disorder. Medicina (Kaunas, Lithuania). 2020 ; 56(5).

Recently, connections have been made between feeding and eating problems and autism spectrum disorder (ASD) and between autism pathophysiology and diet issues. These could explain some of the mechanisms which have not yet been discovered or are not sufficiently characterized. Moreover, there is an increased awareness for micronutrients in ASD due to the presence of gastrointestinal (GI) problems that can be related to feeding issues. For example, levels of vitamins B(1), B(6), B(12), A and D are often reported to be low in ASD children. Thus, in the present mini review we focused on describing the impact of some vitamins deficiencies and their relevance in ASD patients.

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20. Shuid AN, Jayusman PA, Shuid N, Ismail J, Kamal Nor N, Naina Mohamed I. Update on Atypicalities of Central Nervous System in Autism Spectrum Disorder. Brain Sci. 2020 ; 10(5).

Autism spectrum disorder (ASD) is a heterogeneous, behaviorally defined, neurodevelopmental disorder that has been modeled as a brain-based disease. The behavioral and cognitive features of ASD are associated with pervasive atypicalities in the central nervous system (CNS). To date, the exact mechanisms underlying the pathophysiology of ASD still remain unknown and there is currently no cure or effective treatment for this disorder. Many publications implicated the association of ASD with inflammation, immune dysregulation, neurotransmission dysfunction, mitochondrial impairment and cell signaling dysregulation. This review attempts to highlight evidence of the major pathophysiology of ASD including abnormalities in the brain structure and function, neuroglial activation and neuroinflammation, glutamatergic neurotransmission, mitochondrial dysfunction and mechanistic target of rapamycin (mTOR) signaling pathway dysregulation. Molecular and cellular factors that contributed to the pathogenesis of ASD and how they may affect the development and function of CNS are compiled in this review. However, findings of published studies have been complicated by the fact that autism is a very heterogeneous disorder ; hence, we addressed the limitations that led to discrepancies in the reported findings. This review emphasizes the need for future studies to control study variables such as sample size, gender, age range and intelligence quotient (IQ), all of which that could affect the study measurements. Neuroinflammation or immune dysregulation, microglial activation, genetically linked neurotransmission, mitochondrial dysfunctions and mTOR signaling pathway could be the primary targets for treating and preventing ASD. Further research is required to better understand the molecular causes and how they may contribute to the pathophysiology of ASD.

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21. Stenberg N, Schjølberg S, Shic F, Volkmar F, Øyen AS, Bresnahan M, Svendsen BK, von Tetzchner S, Thronæs NT, Macari S, Cicchetti DV, Chawarska K, Suren P, Øien RA. Functional Outcomes of Children Identified Early in the Developmental Period as at Risk for ASD Utilizing the The Norwegian Mother, Father and Child Cohort Study (MoBa). J Autism Dev Disord. 2020.

Early identification of autism spectrum disorder (ASD) is regarded as crucial for swift access to early intervention and, subsequently, better outcomes later in life. However, current instruments miss large proportions of children who later go on to be diagnosed with ASD, raising a question of what these instruments measure. The present study utilized data from the Norwegian Mother, Father, and Child Cohort Study and the Autism Birth Cohort study to explore the subsequent developmental and diagnostic characteristics of children raising developmental concern on the six-critical discriminative item criterion of the M-CHAT (DFA6) at 18 months of age (N = 834). The DFA6 identified 28.8% of children diagnosed with ASD (N = 163), but 4.4% with language disorder (N = 188) and 81.3% with intellectual disability (N = 32) without ASD. Scoring in the « at-risk » range was associated with lower IQ, impaired functional language, and greater severity of autism symptoms whether children had ASD or not.

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22. Thompson A, Shahidiani A, Fritz A, O’Muircheartaigh J, Walker L, D’Almeida V, Murphy C, Daly E, Murphy D, Williams S, Deoni S, Ecker C. Age-related differences in white matter diffusion measures in autism spectrum condition. Mol Autism. 2020 ; 11(1) : 36.

BACKGROUND : Autism spectrum condition (ASC) is accompanied by developmental differences in brain anatomy and connectivity. White matter differences in ASC have been widely studied with diffusion imaging but results are heterogeneous and vary across the age range of study participants and varying methodological approaches. To characterize the neurodevelopmental trajectory of white matter maturation, it is necessary to examine a broad age range of individuals on the autism spectrum and typically developing controls, and investigate age × group interactions. METHODS : Here, we employed a spatially unbiased tract-based spatial statistics (TBSS) approach to examine age-related differences in white matter connectivity in a sample of 41 individuals with ASC, and 41 matched controls between 7-17 years of age. RESULTS : We found significant age-related differences between the ASC and control group in widespread brain regions. This included age-related differences in the uncinate fasciculus, corticospinal tract, inferior longitudinal fasciculus, inferior fronto-occipital fasciculus, anterior thalamic radiation, superior longitudinal fasciculus and forceps major. Measures of fractional anisotropy (FA) were significantly positively associated with age in both groups. However, this relationship was significantly stronger in the ASC group relative to controls. Measures of radial diffusivity (RD) were significantly negatively associated with age in both groups, but this relationship was significantly stronger in the ASC group relative to controls. LIMITATIONS : The generalisability of our findings is limited by the restriction of the sample to right-handed males with an IQ > 70. Furthermore, a longitudinal design would be required to fully investigate maturational processes across this age group. CONCLUSIONS : Taken together, our findings suggest that autistic males have an altered trajectory of white matter maturation relative to controls. Future longitudinal analyses are required to further characterize the extent and time course of these differences.

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23. Vabalas A, Gowen E, Poliakoff E, Casson AJ. Applying Machine Learning to Kinematic and Eye Movement Features of a Movement Imitation Task to Predict Autism Diagnosis. Sci Rep. 2020 ; 10(1) : 8346.

Autism is a developmental condition currently identified by experts using observation, interview, and questionnaire techniques and primarily assessing social and communication deficits. Motor function and movement imitation are also altered in autism and can be measured more objectively. In this study, motion and eye tracking data from a movement imitation task were combined with supervised machine learning methods to classify 22 autistic and 22 non-autistic adults. The focus was on a reliable machine learning application. We have used nested validation to develop models and further tested the models with an independent data sample. Feature selection was aimed at selection stability to assure result interpretability. Our models predicted diagnosis with 73% accuracy from kinematic features, 70% accuracy from eye movement features and 78% accuracy from combined features. We further explored features which were most important for predictions to better understand movement imitation differences in autism. Consistent with the behavioural results, most discriminative features were from the experimental condition in which non-autistic individuals tended to successfully imitate unusual movement kinematics while autistic individuals tended to fail. Machine learning results show promise that future work could aid in the diagnosis process by providing quantitative tests to supplement current qualitative ones.

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24. Vigli D, Palombelli G, Fanelli S, Calamandrei G, Canese R, Mosca L, Luisa Scattoni M, Ricceri L. Maternal Immune Activation in mice only partially recapitulates the Autism Spectrum Disorders symptomatology. Neuroscience. 2020.

Prenatal viral/bacterial infections are considered risk factors for autism spectrum disorders (ASD) and rodent models of maternal immune activation (MIA) have been developed and extensively used in preclinical studies. Poly inosinic-cytidylic acid (Poly I:C) was injected in C57BL6/J dams to mimic a viral infection on gestational day 12.5 ; the experimental design includes 10/12 litters in each treatment group and data were analysed always considering the litter-effect ; neonatal (spontaneous motor behaviour and ultrasonic vocalizations) and adult [open field, marble burying, social approach, fear conditioning, prepulse inhibition (PPI)] offspring of both sexes were tested. In vivo magnetic resonance imaging/spectroscopy (MRI-MRS) and high-performance liquid chromatography (HPLC) to quantify both aminoacid and/or neurotransmitter concentration in cortical and striatal regions were also carried out. In both sexes high levels of repetitive motor responses and sensory gating deficits in PPI were the more striking effects of Poly I:C, whereas no alteration of social responses were evidenced. Poly I:C treatment did not affect mean values, but, intriguingly, increased variability in the levels of four aminoacids (aspartate glycine and GABA) selectively in males. As a whole prenatal Poly I:C induced relevant long-term alterations in explorative-stereotyped motor responses and in sensory gating, sparing cognitive and social competences. When systematically assessing differences between male and female siblings within each litter, no significant sex differences were evident except for increased variability of four aminoacid levels in male brains. As a whole, prenatal Poly I:C paradigms appear to be a useful tool to investigate the profound and translationally-relevant effects of developmental immune activation on brain and behavioural development, not necessarily recapitulating the full ASD symptomatology.

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25. Watkins L, Tomeny T, O’Reilly M, Sillis KH, Zamora C. A Naturalistic Behavioral Intervention to Increase Interaction between Siblings with and without Autism. Behav Modif. 2020 : 145445520920813.

Research suggests that including typically developing siblings in interventions for children with autism spectrum disorder (ASD) may be beneficial. However, studies have predominantly involved only participants with mild symptoms of ASD and have not also reported outcomes for the typically developing sibling. The purpose of this study was to address these gaps by replicating and extending an intervention package consisting of structured, interest-based play activities, adult instruction and modeling, and response to child questions. A reversal design across two sibling dyads was used to demonstrate the effects of the intervention on the social interaction behaviors of the child with ASD and typically developing sibling. Social interaction increased for both sibling dyads, results generalized for one dyad, and multiple measures indicated a high level of social validity. Recommendations for practitioners and caregivers working with children with ASD and potential areas of future research are discussed.

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