Autism spectrum disorders: clinical diagnosis and possible mechanisms

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  • Ishizuka Kanako
    Department of Psychiatry, Nagoya University Graduate School of Medicine
  • Ozaki Norio
    Department of Psychiatry, Nagoya University Graduate School of Medicine Department of Child and Adolescent Psychiatry, Nagoya University Graduate School of Medicine

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Other Title
  • 自閉スペクトラム症の診断と病態
  • ジヘイスペクトラムショウ ノ シンダン ト ビョウタイ

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Abstract

Autism spectrum disorders (ASDs) arise during the early years of life with heterogeneous neurodevelopmental clinical conditions and are diagnosed based on DSM-5 criteria reflecting symptoms in social interaction, communication, repetitive behavior, and intense interests. Progress in understanding both the genetic and non-genetic etiology of ASDs has provided remarkable information in its potential neurobiological mechanisms, i.e. synaptic dysfunction, disrupted neuron-glia signaling, maternal immune activation and chronic neuroinflammation. With the early onset of ASDs, the intervention may occur at a very young age when the brain is under going the period of development and maturation. To reduce the unwanted effect to the developing brain, therapeutic intervention should be circuitry-specific. Combining genetic evidence, neuropathology, studies in animal studies, studies of human induced pluripotent stem cells models and clinical findings, more comprehensive translational research to develop an evidence-based theoretical framework for understanding ASDs and design more efficient and effective interventions is needed.

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