Neurodevelopmental disorders (NDDs) are a group of disorders, whose symptomatology begins in early childhood and which result from structural errors occurring during nervous system development. Despite specific diagnostic criteria for some disorders, such as intellectual disability (ID) and autism spectrum disorder (ASD), there is a considerable overlap between individual conditions and great variability within a given condition, at both phenotypic and genetic levels, leading to a very large number of genes being considered as “risks” for NDD development. NDD neuropsychiatric disturbances are often accompanied by systemic abnormalities, such as chronic inflammation, abnormal circadian rhythms, etc. When considering both neurological and systemic abnormalities, there is a transcription factor, retinoid-related orphan receptor alpha (RORα), that may underlie all aspects. The role of RORα in brain development is increasingly understood, and the abnormalities that occur due to RORα deficiency can explain phenotypic, neural circuit, and structural abnormalities observed in NDDs.

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Features of Neurodevelopmental Disorders and the Role of Retinoid-Related Orphan Receptor Alpha

  • Rachel M. Sherrard

摘要

Neurodevelopmental disorders (NDDs) are a group of disorders, whose symptomatology begins in early childhood and which result from structural errors occurring during nervous system development. Despite specific diagnostic criteria for some disorders, such as intellectual disability (ID) and autism spectrum disorder (ASD), there is a considerable overlap between individual conditions and great variability within a given condition, at both phenotypic and genetic levels, leading to a very large number of genes being considered as “risks” for NDD development. NDD neuropsychiatric disturbances are often accompanied by systemic abnormalities, such as chronic inflammation, abnormal circadian rhythms, etc. When considering both neurological and systemic abnormalities, there is a transcription factor, retinoid-related orphan receptor alpha (RORα), that may underlie all aspects. The role of RORα in brain development is increasingly understood, and the abnormalities that occur due to RORα deficiency can explain phenotypic, neural circuit, and structural abnormalities observed in NDDs.