Genetski polimorfizmi presnovnih poti pri avtizmu (Slovene)

Autism is clinically extremly complex disease, but the pathogenesis is still poorly understood. Nevertheless, the thorough evaluation of genetic background of metabolic pathway revieled the involvement of reactive oxygen species metabolism genes in the aetiology of ASD. Those results have contributed to the understanding of the ASD complexity and its genetic background. This brought important new basic knowledge on aetiology of the disease as well as provide further new clinically relevant knowledge. It will contribute to the improvement in targeted and personalized medical treatment of the individuals with ASD.

Autism presents in the modern society a growing problem with an increasing incidence and large public attention. The aetiology of autism remains despite the seriousness of the disease and the ongoing research largely unknown. More so, there is no effective treatment. Hence novel knowledge on the genetic background of the disease is of paramount importance for the society. Results of this project brought in adition to basic knowledge also clinically relevant new knowledge. This might lead to: • improvement of the medical service provided to patients with autism, • increase of the quality of life of patients and their families • decrease of the amount of workng days lost by the caregivers, • decrease of the direct and indirect costs relatet to this pathology.