Neuroscience Bulletin

, Volume 35, Issue 6, pp 1110–1112 | Cite as

Towards the Framework of Understanding Autism Spectrum Disorders

  • Zilong QiuEmail author
  • Bo Yuan

The prevalence of autism spectrum disorders (ASD) has been high worldwide, reaching 1/59 children in the United States as reported by the Centers of Disease Control and Prevention. Since genetic components play a major role in ASD [1], it is astonishing that the occurrence of ASD would be this high probabily due to genetic causes. It is worthy to note that autistic phenotypes of ASD patients show great diversity. The severity of autistic symptoms may be correlated with whether genetic mutations affect neural development. Thus, we argue that the prevalence of severe ASD may be much lower than the common ASD usually reported. In clinic and neurobiological fields, the ASD candidate genes are usually critical genes whose loss-of-function will affect neural development dramatically. In the following sections, I will focus on the recent progress on clinical diagnosis of severe ASD, as well as genetic and neurobiological studies.

Clinical Diagnosis and Novel Technologies

Clinical diagnosis...


  1. 1.
    Iakoucheva LM, Muotri AR, Sebat J. Getting to the cores of autism. Cell 2019, 178: 1287–1298.CrossRefGoogle Scholar
  2. 2.
    Zhou B, Zhou H, Wu L, Zou X, Luo X, Fombonne E, et al. Assessing the accuracy of the modified chinese autism spectrum rating scale and social responsiveness scale for screening autism spectrum disorder in Chinese children. Neurosci Bull 2017, 33: 168–174.CrossRefGoogle Scholar
  3. 3.
    Wang S, Deng H, You C, Chen K, Li J, Tang C, et al. Sex differences in diagnosis and clinical phenotypes of Chinese children with autism spectrum disorder. Neurosci Bull 2017, 33: 153–160.CrossRefGoogle Scholar
  4. 4.
    Lainhart JE. Brain imaging research in autism spectrum disorders: in search of neuropathology and health across the lifespan. Curr Opin Psychiatry 2015, 28: 76–82.CrossRefGoogle Scholar
  5. 5.
    Shou XJ, Xu XJ, Zeng XZ, Liu Y, Yuan HS, Xing Y, et al. A volumetric and functional connectivity MRI study of brain arginine-vasopressin pathways in autistic children. Neurosci Bull 2017, 33: 130–142.CrossRefGoogle Scholar
  6. 6.
    Li Y, Fang H, Zheng W, Qian L, Xiao Y, Wu Q, et al. A fiber tractography study of social-emotional related fiber tracts in children and adolescents with autism spectrum disorder. Neurosci Bull 2017, 33: 722–730.CrossRefGoogle Scholar
  7. 7.
    Forsyth JK, Nachun D, Gandal MJ, Geschwind DH, Anderson AE, Coppola G, et al. Synaptic and gene regulatory mechanisms in schizophrenia, autism, and 22q11.2 copy number variant-mediated risk for neuropsychiatric disorders. Biol Psychiatry 2019. Scholar
  8. 8.
    Xu M, Ji Y, Zhang T, Jiang X, Fan Y, Geng J, et al. Clinical application of chromosome microarray analysis in Han Chinese children with neurodevelopmental disorders. Neurosci Bull 2018, 34: 981–991.CrossRefGoogle Scholar
  9. 9.
    Qian A, Wang X, Liu H, Tao J, Zhou J, Ye Q, et al. Dopamine D4 receptor gene associated with the frontal-striatal-cerebellar loop in children with ADHD: A resting-state fMRI study. Neurosci Bull 2018, 34: 497–506.CrossRefGoogle Scholar
  10. 10.
    Tian Y, Zhang ZC, Han J. Drosophila studies on autism spectrum disorders. Neurosci Bull 2017, 33: 737–746.CrossRefGoogle Scholar
  11. 11.
    Liu Z, Li X, Zhang JT, Cai YJ, Cheng TL, Cheng C, et al. Autism-like behaviours and germline transmission in transgenic monkeys overexpressing MeCP2. Nature 2016, 530: 98–102.CrossRefGoogle Scholar
  12. 12.
    Liu H, Chen Y, Niu Y, Zhang K, Kang Y, Ge W, et al. TALEN-mediated gene mutagenesis in rhesus and cynomolgus monkeys. Cell Stem Cell 2014, 14: 323–328.CrossRefGoogle Scholar
  13. 13.
    Chen Y, Yu J, Niu Y, Qin D, Liu H, Li G, et al. Modeling rett syndrome using TALEN-edited MECP2 mutant cynomolgus monkeys. Cell 2017, 169: 945–955 e910.Google Scholar
  14. 14.
    Zhao H, Tu Z, Xu H, Yan S, Yan H, Zheng Y, et al. Altered neurogenesis and disrupted expression of synaptic proteins in prefrontal cortex of SHANK3-deficient non-human primate. Cell Res 2017, 27: 1293–1297.CrossRefGoogle Scholar
  15. 15.
    Tu Z, Zhao H, Li B, Yan S, Wang L, Tang Y, et al. CRISPR/Cas9-mediated disruption of SHANK3 in monkey leads to drug-treatable autism-like symptoms. Hum Mol Genet 2019, 28: 561–571.CrossRefGoogle Scholar
  16. 16.
    Zhou Y, Sharma J, Ke Q, Landman R, Yuan J, Chen H, et al. Atypical behaviour and connectivity in SHANK3-mutant macaques. Nature 2019, 570: 326–331.CrossRefGoogle Scholar

Copyright information

© Shanghai Institutes for Biological Sciences, CAS 2019

Authors and Affiliations

  1. 1.Institute of Neuroscience, State Key Laboratory of Neuroscience, CAS Center for Excellence in Brain Science and Intelligence TechnologyChinese Academy of SciencesShanghaiChina

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