STRUCTURE OF THE DIAGNOSIS AND TREATMENT REGIMEN FOR GENETIC FOLATE DEFICIENCY ASSOCIATED WITH AUTISM SPECTRUM DISORDERS, ON THE EXAMPLE OF A CLINICAL CASE
Keywords:
autism spectrum disorders, genetic deficiency of the folate cycle, medical care, clinical caseAbstract
Formulation of the problem. On the example of a typical clinical case, we can clearly demonstrate the practical implementation of a modern algorithm of rational approaches to the organization of examinations, formulation and structuring of clinical diagnosis and selection of treatment methods for children with genetic folate deficiency, which show signs of autism spectrum disorders.
Analysis of recent research and publications. Recent advances in immunogenetics have established the basis of genetic predisposition to the development of autism spectrum disorders in children and elucidate the main immune-dependent mechanisms of nervous system damage in this category of patients. Accordingly, we have published an algorithm for providing medical care to children with autism spectrum disorders with a phased approach to laboratory, instrumental research and medical interventions.
Formulating the purpose of the article. The purpose of the publication is to demonstrate the practical application of the proposed algorithm by providing medical care to children with genetic deficiency of the folate cycle, who have signs of the autism spectrum, on the example of a typical clinical case from practice.
Presentation of the main material. The article describes the medical history of a child aged 4 years and 6 months, which marked the debut of autism spectrum disorders at the age of 1 year and 2 months after an episode of acute bacterial otitis. In addition, the patient had intestinal dysfunction, hyperkinesis in the form of tics and obsessive-compulsive syndrome, which later joined. The results of laboratory tests according to the recommended algorithm of medical care are given. On the basis of the received data the clinical diagnosis is formulated and its structure is substantiated. Accordingly, the expediency of the recommended therapeutic interventions according to the results of controlled studies published in peer-reviewed scientific periodicals is given and explained.
Conclusions and prospects for further research. Discoveries in the field of immunogenetics of autism spectrum disorders allow to justify an innovative approach to the clinical management of children with genetic deficiency of the folate cycle, which have autism spectrum disorders, which allows to achieve success in combating this disease.
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