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دراسات سابقة 2020 حديثة في اضطراب التوحد Autism

دراسات سابقة حديثة في اضطراب التوحد (2020)

دراسات سابقة حديثة في اضطراب التوحد (2020)

تحديد متغيرات المخاطر الجينية الشائعة لاضطراب طيف التوحد (2019)

Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of underdevelopment phenotype diagnosed in more than 1% of children. Common genetic variants contribute substantially to ASD susceptibility, but to date no individual variants have been robustly associated with ASD. With a marked sample-size increase from a unique Danish population resource, we report a genome-wide association meta-analysis of 18,381 individuals with ASD and 27,969 controls that identified five genome-wide-significant loci. Leveraging GWAS results from three phenotype with significantly overlapping genetic architectures (schizophrenia, major depression, and educational attainment), we identified seven additional loci shared with other traits at equally strict significance levels. Dissecting the polytechnic architecture, we found both quantitative and qualitative polygenic heterogeneity across ASD sub types. These results highlight biological insights, particularly relating to neuronal function and parthenogenesis, and establish that GWAS performed at scale will be much more productive in the near term in ASD.
Grove, J., Ripke, S., Als, T. D., Mattheisen, M., Walters, R. K., Won, H., ... & Awashti, S. (2019). Identification of common genetic risk variants for autism spectrum disorder. Nature genetics, 51(3), 431-444.‏ 

تحديد وتقييم وإدارة الأطفال الذين يعانون من اضطراب طيف التوحد (2020)

Autism spectrum disorder (ASD) is a common neurodevelopmental disorder with reported prevalence in the United States of 1 in 59 children (approximately 1.7%). Core deficits are identified in 2 domains: social communication/interaction and restrictive, repetitive patterns of behavior. Children and youth with ASD have service needs in behavioral, educational, health, leisure, family support, and other areas. Standardized screening for ASD at 18 and 24 months of age with ongoing developmental surveillance continues to be recommended in primary care (although it may be performed in other settings), because ASD is common, can be diagnosed as young as 18 months of age, and has evidenced-based interventions that may improve function. More accurate and culturally sensitive screening approaches are needed. Primary care providers should be familiar with the diagnostic criteria for ASD, appropriate etiologic evaluation, and co-occurring medical and behavioral conditions (such as disorders of sleep and feeding, gastrointestinal tract symptoms, obesity, seizures, attention-deficit/hyperactivity disorder, anxiety, and wandering) that affect the child’s function and quality of life. There is an increasing evidence base to support behavioral and other interventions to address specific skills and symptoms. Shared decision making calls for collaboration with families in evaluation and choice of interventions.  This single clinical report updates the 2007 American Academy of Pediatrics clinical reports on the evaluation and treatment of ASD in one publication with an online table of contents and section view available through the American Academy of Pediatrics Gateway to help the reader identify topic areas within the report.
Hyman, S. L., Levy, S. E., & Myers, S. M. (2020). Identification, evaluation, and management of children with autism spectrum disorder. Pediatrics, 145(1).

أعراض التوحد التزامن العصبي بين الأشخاص عند الأطفال المصابين باضطراب طيف التوحد في التفاعلات التعاونية (2020)


Previous neuroscience studies exploring the neural mechanisms of social deficits of individuals with autism spectrum disorder (ASD) have mainly examined single participants’ brain responses to pictures or video-clips displayed on a monitor from the perspective of a passive observer. The present study examined inter-brain communication between children with ASD and their parents in a socio-interactive context. We used a functional near-infrared spectroscopy (fNIRS)-based hyperscanning technique to simultaneously measure the prefrontal activations in 16 pairs of children with ASD and their parents in a two-person key-press task. The children’s task was to press a key together with their parents in a cooperation condition when a “go” signal was present or to press a key as fast as possible under the observation by their parents in a single-person condition. We also measured children’s severity of autism symptoms.We found that children with ASD showed increased interpersonal neural synchronization in the frontal cortex when engaging in cooperative interactions with their parents than when performing solo and non-interactive behaviors. Furthermore, this neural synchronization was modulated by the children’s autism symptoms, which also covaried with their cooperation task performance. That is, children with severer autism symptoms showed lower level of action and neural synchronization with their parents during cooperation. Our study moved a major step forward in understanding the neural correlates underlying social deficits in ASD and provided important implications for the treatment and behavioral training of ASD.
Wang, Q., Han, Z., Hu, X., Feng, S., Wang, H., Liu, T., & Yi, L. (2020). Autism Symptoms Modulate Interpersonal Neural Synchronization in Children with Autism Spectrum Disorder in Cooperative Interactions. Brain Topography, 33(1), 112-122.‏




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