Neuroradiological signs of encephalopathy in children with autism spectrum disorders associated with genetic deficiency of the folate cycle
Keywords:
immunodiagnostics, immunotherapy, neuropsychiatric disorders, children, diagnostics, therapySynopsis
One of the important advances in psychiatry and neurology in recent years is the elucidation of the association between genetic deficiency of the folate cycle (GDFC) and autism spectrum disorders (ASD) in children. The evidence for such an association is based on the results of at least five meta-analyses of randomized controlled clinical trials and a number of additional randomized controlled trials, the results of which are still not systematized. It has been shown that GDFC leads to the development of a number of typical biochemical disorders, which cause a state of a special form of immunodeficiency and associated persistent oxidative stress, systemic inflammation, including hyperproduction of tumor necrosis factor alpha (TNF-alpha) and other pro-inflammatory cytokines with neurotoxic effects, opportunistic neurotropic infections, including those caused by herpes viruses 6 (HHV-6) and 7 types (HHV-7), and anti-brain autoimmune reactions to neuronal autoantigens and myelin. It seems obvious that these three currently known immune-dependent mechanisms of cerebral damage are important in the development of encephalopathy in GDFC, one of the clinical manifestations of which is ASD, but the general concept of the pathogenesis of the disease is still not properly formulated. Since most of the studied pathways of CNS damage in GDFC are immune-mediated, they suggest a specific violation of the neuroimmune interface as a model for forming encephalopathy in such cases, which can be used in planning and conducting further clinical studies in the outlined direction.
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May 19, 2025
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Copyright (c) 2025 Dmytro Maltsev
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Neuroradiological signs of encephalopathy in children with autism spectrum disorders associated with genetic deficiency of the folate cycle. (2025). In D. Maltsev, IMMUNODIAGNOSTICS AND IMMUNOTHERAPY OF NEUROPSYCHIATRIC DISORDERS IN CHILDREN (pp. 92–109). Kharkiv: TECHNOLOGY CENTER PC. https://doi.org/10.15587/978-617-8360-21-4.ch7
