Pubmed du 28/05/22
1. Akaba Y, Shiohama T, Komaki Y, Seki F, Ortug A, Sawada D, Uchida W, Kamagata K, Shimoji K, Aoki S, Takahashi S, Suzuki T, Natsume J, Takahashi E, Tsujimura K. Comprehensive Volumetric Analysis of Mecp2-Null Mouse Model for Rett Syndrome by T2-Weighted 3D Magnetic Resonance Imaging. Front Neurosci;2022;16:885335.
Rett syndrome (RTT) is a severe progressive neurodevelopmental disorder characterized by various neurological symptoms. Almost all RTT cases are caused by mutations in the X-linked methyl-CpG-binding protein 2 (MeCP2) gene, and several mouse models have been established to understand the disease. However, the neuroanatomical abnormalities in each brain region of RTT mouse models have not been fully understood. Here, we investigated the global and local neuroanatomy of the Mecp2 gene-deleted RTT model (Mecp2-KO) mouse brain using T2-weighted 3D magnetic resonance imaging with different morphometry to clarify the brain structural abnormalities that are involved in the pathophysiology of RTT. We found a significant reduction in global and almost all local volumes in the brain of Mecp2-KO mice. In addition, a detailed comparative analysis identified specific volume reductions in several brain regions in the Mecp2-deficient brain. Our analysis also revealed that the Mecp2-deficient brain shows changes in hemispheric asymmetry in several brain regions. These findings suggest that MeCP2 affects not only the whole-brain volume but also the region-specific brain structure. Our study provides a framework for neuroanatomical studies of a mouse model of RTT.
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2. Capal JK. Describing autism spectrum disorder in tuberous sclerosis complex: Challenges and future opportunities. Dev Med Child Neurol;2022 (May 28)
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3. Choi KR, Lotfizadah AD, Bhakta B, Pompa-Craven P, Coleman KJ. Concordance between patient-centered and adaptive behavior outcome measures after applied behavior analysis for autism. BMC Pediatr;2022 (May 27);22(1):314.
BACKGROUND: Applied behavior analysis (ABA) is an evidence-based approach to autism spectrum disorder that has been shown in clinical trials to improve child functional status. There is substantial focus in ABA on setting and tracking individualized goals that are patient-centered, but limited research on how to measure progress on such patient-centered outcomes. PURPOSE: The purpose of this investigation was to assess concordance between patient-centered and standard outcome measures of treatment progress in a real-world clinical sample of children receiving ABA for autism spectrum disorder. METHODS: This observational study used a clinical sample of children ages 3 to 16 years (N = 154) who received 24 months of ABA from an integrated health system. Concordance between three outcome measures after ABA was assessed using a correlation matrix: (1) patient-centered measures of progress on individualized treatment goals, (2) caregiver-centered measure of progress on treatment participation goals, and (3) the Vineland Adaptive Behavior Scales adaptive behavior composite. RESULTS: There was limited concordance among measures at both 12 and 24 months of ABA. None of the patient-centered measures showed significant positive correlation with adaptive behavior composite difference scores at either 12 or 24 months, nor did the caregiver measure. The percentage of children achieving clinically meaningful gain on patient-centered goal measures increased between 12 and 24 months of ABA, while the percentage of children achieving clinically meaningful gains in adaptive behavior declined during the same time period. CONCLUSIONS: In a health system implementation of ABA, there was limited concordance between patient-centered and standard measures of clinically meaningful treatment progress for children with ASD. Clinicians should have ongoing dialogue with patients and parents/caregivers to ensure that interventions for ASD are resulting in progress towards outcomes that are meaningful to patients and families.
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4. Christiansen A. Uniquely Human: A Different Way of Seeing Autism. J Dev Behav Pediatr;2022 (May 26)
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5. Connacher R, Williams M, Prem S, Yeung PL, Matteson P, Mehta M, Markov A, Peng C, Zhou X, McDermott CR, Pang ZP, Flax J, Brzustowicz L, Lu CW, Millonig JH, DiCicco-Bloom E. Autism NPCs from both idiopathic and CNV 16p11.2 deletion patients exhibit dysregulation of proliferation and mitogenic responses. Stem Cell Reports;2022 (May 17)
Neural precursor cell (NPC) dysfunction has been consistently implicated in autism. Induced pluripotent stem cell (iPSC)-derived NPCs from two autism groups (three idiopathic [I-ASD] and two 16p11.2 deletion [16pDel]) were used to investigate if proliferation is commonly disrupted. All five individuals display defects, with all three macrocephalic individuals (two 16pDel, one I-ASD) exhibiting hyperproliferation and the other two I-ASD subjects displaying hypoproliferation. NPCs were challenged with bFGF, and all hyperproliferative NPCs displayed blunted responses, while responses were increased in hypoproliferative cells. mRNA expression studies suggest that different pathways can result in similar proliferation phenotypes. Since 16pDel deletes MAPK3, P-ERK was measured. P-ERK is decreased in hyperproliferative but increased in hypoproliferative NPCs. While these P-ERK changes are not responsible for the phenotypes, P-ERK and bFGF response are inversely correlated with the defects. Finally, we analyzed iPSCs and discovered that 16pDel displays hyperproliferation, while idiopathic iPSCs were normal. These data suggest that NPC proliferation defects are common in ASD.
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6. Dwyer P, Takarae Y, Zadeh I, Rivera SM, Saron CD. A Multidimensional Investigation of Sensory Processing in Autism: Parent- and Self-Report Questionnaires, Psychophysical Thresholds, and Event-Related Potentials in the Auditory and Somatosensory Modalities. Front Hum Neurosci;2022;16:811547.
BACKGROUND: Reconciling results obtained using different types of sensory measures is a challenge for autism sensory research. The present study used questionnaire, psychophysical, and neurophysiological measures to characterize autistic sensory processing in different measurement modalities. METHODS: Participants were 46 autistic and 21 typically developing 11- to 14-year-olds. Participants and their caregivers completed questionnaires regarding sensory experiences and behaviors. Auditory and somatosensory event-related potentials (ERPs) were recorded as part of a multisensory ERP task. Auditory detection, tactile static detection, and tactile spatial resolution psychophysical thresholds were measured. RESULTS: Sensory questionnaires strongly differentiated between autistic and typically developing individuals, while little evidence of group differences was observed in psychophysical thresholds. Crucially, the different types of measures (neurophysiological, psychophysical, questionnaire) appeared to be largely independent of one another. However, we unexpectedly found autistic participants with larger auditory Tb ERP amplitudes had reduced hearing acuity, even though all participants had hearing acuity in the non-clinical range. LIMITATIONS: The autistic and typically developing groups were not matched on cognitive ability, although this limitation does not affect our main analyses regarding convergence of measures within autism. CONCLUSION: Overall, based on these results, measures in different sensory modalities appear to capture distinct aspects of sensory processing in autism, with relatively limited convergence between questionnaires and laboratory-based tasks. Generally, this might reflect the reality that laboratory tasks are often carried out in controlled environments without background stimuli to compete for attention, a context which may not closely resemble the busier and more complex environments in which autistic people’s atypical sensory experiences commonly occur. Sensory questionnaires and more naturalistic laboratory tasks may be better suited to explore autistic people’s real-world sensory challenges. Further research is needed to replicate and investigate the drivers of the unexpected association we observed between auditory Tb ERP amplitudes and hearing acuity, which could represent an important confound for ERP researchers to consider in their studies.
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7. Esnafoglu E, Cırrık S. Apo D and Apo E levels in Autism spectrum disorders. Asian J Psychiatr;2022 (May 20);73:103177.
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8. Grater JE, Muniz EI, Silver EJ, Blum NJ, Shults J, Stein REK. Treatment of Attention-Deficit/Hyperactivity Disorder with Medication in Children with Autism Spectrum Disorder With and Without Intellectual Disability: A DBPNet Study. J Autism Dev Disord;2022 (May 28)
Children with autism spectrum disorder (ASD) and intellectual disability (ID)/global delay (GD) frequently have symptoms of attention-deficit/hyperactivity disorder (ADHD). We describe the practice patterns of developmental behavioral pediatricians (DBPs) in the treatment of children with ASD and coexisting ADHD and compare medication classes for children with and without intellectual disability. In bivariate analyses, we compared demographic characteristics, co-occurring conditions, and medication classes for children with and without intellectual disability. Significantly more patients with ID/GD were prescribed α-agonists than patients without ID/GD, but the difference was no longer significant when controlling for age in logistic regression children with ID/GD had more comorbidities and were more likely to be prescribed more than on psychotropic medication. In conclusion, age rather than ID/GD was associated with medication choice.
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9. Lunsky Y, Lai MC, Balogh R, Chung H, Durbin A, Jachyra P, Tint A, Weiss J, Lin E. Premature mortality in a population-based cohort of autistic adults in Canada. Autism Res;2022 (May 28)
Research from different countries suggests that autistic adults are more likely to die prematurely than non-autistic adults, but these studies do not always investigate male and female individuals separately and do not consider whether this pattern is unique to autistic people or is also an issue for people with other developmental disabilities. We examined premature mortality in autistic males and females (assigned at birth) in a population-based cohort, compared to males and females with and without other developmental disabilities. Using linked administrative health and social services population data from Ontario, Canada, age-matched males and females aged 19-65 years were followed between 2010 and 2016, and causes of death were determined. Over the 6-year observation period, 330 of 42,607 persons (0.77%) in the group without developmental disabilities had died compared to 259 of 10,646 persons (2.43%) in the autism group and 419 of 10,615 persons (3.95%) in the other developmental disabilities group. Autistic males and females were more likely to die than non-autistic males (adjusted risk ratio, RR 3.13, 95%CI 2.58-3.79) and non-autistic females (adjusted RR 3.12, 95%CI 2.35-4.13) without developmental disabilities, but were less likely to die than adults with other developmental disabilities (males: adjusted RR 0.66, 95%CI 0.55-0.79; females: adjusted RR 0.55, 95%CI 0.43-0.71). Most common causes of death varied depending on a person’s sex and diagnosis. Given the greater likelihood of premature mortality in adults with developmental disabilities including autism, greater attention and resources directed toward their health and social care are needed, tailored to their sex and diagnosis-informed needs. LAY SUMMARY: This study looked at how many autistic men and women died over 6 years (2010-2016), along with how they died, and compared this to adults who did not have autism living in Ontario, Canada. It found that autistic men and women were more than three times as likely to die as people of the same age who did not have a developmental disability. However, adults with other developmental disabilities besides autism were even more likely to die than autistic adults. This means that we have to pay more attention and invest in better social and health care for autistic people, along with people who have other types of developmental disabilities.
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10. Márquez-García AV, Vakorin VA, Kozhemiako N, Magnuson JR, Iarocci G, Ribary U, Moreno S, Doesburg SM. Children with autism spectrum disorder show atypical electroencephalographic response to processing contextual incongruencies. Sci Rep;2022 (May 27);12(1):8948.
Children with autism spectrum disorder (ASD) experience difficulties with social communication, making it challenging to interpret contextual information that aids in accurately interpreting language. To investigate how the brain processes the contextual information and how this is different in ASD, we compared event-related potentials (ERPs) in response to processing visual and auditory congruent and incongruent information. Two groups of children participated in the study: 37 typically developing children and 15 children with ASD (age range = 6 to 12). We applied a language task involving auditory sentences describing congruent or incongruent images. We investigated two ERP components associated with language processing: the N400 and P600. Our results showed how children with ASD present significant differences in their neural responses in comparison with the TD group, even when their reaction times and correct trials are not significantly different from the TD group.
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11. Pavlopoulou G, Usher C, Pearson A. ‘I can actually do it without any help or someone watching over me all the time and giving me constant instruction’: Autistic adolescent boys’ perspectives on engagement in online video gaming. Br J Dev Psychol;2022 (May 28)
Research into autistic adolescents’ engagement in online gaming has so far focused on time spent gaming, or characterizing problematic gaming behaviour and has relied mostly on caregiver report. In the current study, we interviewed 12 autistic adolescent boys, asking about their perspectives on their engagement in online gaming, and their motivations. We analysed the interview data using thematic analysis and identified three key themes in the data, which focused on agency and a sense of belonging, emotion regulation, and acknowledgement of the differing perceptions that the young people and their caregivers had of gaming. Our findings show the need to include the viewpoints of autistic young people in research about their interests and well-being, and provide insights that can help caregivers and professionals to support autistic young people in flourishing.
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12. Uzodinma UE, C NO, Ngwoke AN, Ugwu JI, Okorie CO, B AA, Ani CK, Ngwu CN, Nwankwo FM, Okoli CN, Eze HO, Orabueze FO, Ogbu EO, Okoro KN, Solomon KC, Okeke IJ, Nwamuo BE, Ani U, Moguluwa SC, Akanaeme IN. Effectiveness of rational emotive occupational health coaching in reducing burnout symptoms among teachers of children with autism. Sci Prog;2022 (Apr-Jun);105(2):368504221100907.
BACKGROUND/OBJECTIVES: The negative impacts of Job-related burnout on job performance have been widely documented in the literature. Burnout accounts for both physical and mental health outcomes that increase work turnover in teachers, especially those who teach special needs children, like those with Autism Spectrum Disorders (ASD). The current study assessed the effectiveness of Rational Emotive Occupational Health Coaching (REOHC) in minimizing job burnout amongst autistic children teachers in Anambra state, Nigeria. METHOD: The study used a group-randomized waitlist control trial design. teachers who teach ASD children in private and public special and inclusive schools participated in the study. All participants were randomly allocated to REOHC and waitlist group (WLG). REOHC group were exposed to a single session 120 min REOHC programme every week for 12 weeks. Data were collected using Maslach Burnout Inventory for Educators (MBI-ES), at baseline; post-intervention as well as follow-up evaluations 1 and 2 evaluations. All the data gathered for the study were analysed using mean, Standard Deviation (SD), t-test statistics, repeated measures ANOVA, and charts. RESULTS: Results indicated a significant decrease in teachers’ burnout, following REOHC intervention, which was sustained through follow-ups 1 and 2. CONCLUSION: In conclusion, we stated that REOHC is valuable in treating burnout symptoms in teachers of children with ASDs.
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13. Wang J, Huang H, Liu C, Zhang Y, Wang W, Zou Z, Yang L, He X, Wu J, Ma J, Liu Y. Research Progress on the Role of Vitamin D in Autism Spectrum Disorder. Front Behav Neurosci;2022;16:859151.
Autism spectrum disorder (ASD) is a neurodevelopmental disorder that can lead to severe social behavioral difficulties, which mainly manifests as social communication and interaction disorders; narrow interests; and repetitive, stereotyped behaviors. In recent years, the prevalence of ASD has increased annually, and it has evolved from a rare disease to one with a high incidence among childhood developmental disorders. The pathogenesis of ASD is considered to be the interaction of genetic and environmental factors. There is increasing evidence that vitamin D deficiency in pregnancy and early childhood can lead to the occurrence of ASD. Studies have demonstrated that vitamin D intervention can significantly improve the symptoms of ASD, but the underlying mechanism is still unclear. Therefore, exploring the neuroprotective mechanism of vitamin D against ASD is a huge challenge currently being worked on by current basic and clinical researchers, a task which is of great significance for the clinical promotion and optimization of vitamin D in the treatment of ASD. To further clarify the relationship between vitamin D and ASD, this review summarizes the correlation between vitamin D level and ASD, the effects of vitamin D supplementation on ASD, the possible mechanism of vitamin D involved in ASD, and insights from ASD animal models.
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14. Xuan B, Li S, Li P, Yang L. Time perception of individuals with subthreshold autistic traits: the regulation of interpersonal information associations. BMC Psychiatry;2022 (May 27);22(1):362.
BACKGROUND: People with high subthreshold autistic traits usually share behavioral patterns similar to those of individuals on the autism spectrum, but with fewer social and cognitive changes. The effect of autistic traits on time perception and the role of interpersonal information in this effect remain unexplored. METHODS: This study used a temporal bisection task between 400 and 1600 ms to compare the time perception of individuals with higher and lower autistic traits, and to explore the regulation of interpersonal information on their time perception by establishing associations between identities and geometric shapes. Thirty-two participants with high autistic traits and thirty-one participants with low autistic traits participated in this study. RESULTS: In the absence of identity information, people with high autistic traits tended to judge short durations as longer. Their subjective bisection point was lower, and the Weber ratio was higher than for those with low autistic traits, suggesting that their overestimation of short duration was due to decreased temporal sensitivity. With the involvement of interpersonal information, the proportion of long responses for no identity was significantly lower than for self, friends, and strangers, which seemed more obvious in individuals with low autistic traits although there was no significant interaction between identity and group. The Weber ratio of no identity was lower than that for other identities. CONCLUSION: The results suggest that individuals with high autistic traits have more conservative responses that are relatively shorter in duration, and this change is related to a decline in perceptual sensitivity. Compared to individuals with high autistic traits, the time perception of individuals with low autistic traits seemed more susceptible to interpersonal information.
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15. Zhang M, Ding H, Naumceska M, Zhang Y. Virtual Reality Technology as an Educational and Intervention Tool for Children with Autism Spectrum Disorder: Current Perspectives and Future Directions. Behav Sci (Basel);2022 (May 10);12(5)
The worldwide rising trend of autism spectrum disorder (ASD) calls for innovative and efficacious techniques for assessment and treatment. Virtual reality (VR) technology gains theoretical support from rehabilitation and pedagogical theories and offers a variety of capabilities in educational and interventional contexts with affordable products. VR is attracting increasing attention in the medical and healthcare industry, as it provides fully interactive three-dimensional simulations of real-world settings and social situations, which are particularly suitable for cognitive and performance training, including social and interaction skills. This review article offers a summary of current perspectives and evidence-based VR applications for children with ASD, with a primary focus on social communication, including social functioning, emotion recognition, and speech and language. Technology- and design-related limitations, as well as disputes over the application of VR to autism research and therapy, are discussed, and future directions of this emerging field are highlighted with regards to application expansion and improvement, technology enhancement, linguistic diversity, and the development of theoretical models and brain-based research.