Autism spectrum disorders are pervasive developmental disorders with a complex and heterogeneous etiology. Currently a diagnosis is made clinically, based on criteria defined in the Diagnostic and Statistical Manual of Mental Disorders. Recently, however, there has been a growing interest in the analysis of abnormal metabolite profiles in body fluids of children with autism spectrum disorders. As part of the master's thesis, we focused on elevated levels of porphyrins in urine and their influence on the severity of developmental delay. The aim of the master's thesis was to demonstrate elevated levels of porphyrins in the urine and to identify the fractions responsible for this elevation. With an earlier diagnosis of the disease, a targeted intervention could improve the prognosis of the disease.
The concentrations of total porphyrins and individual fractions were measured in random urine samples. To normalize the results, creatinine in the urine was also determined. The calculation of average concentrations of porphyrins showed elevated levels in children with autism spectrum disorders compared to controls. These differences are expressed to a greater extent in older children, which may be the result of the presence of an enviromental agent. The same results were obtained by analyzing the entire population and individual age groups with the Mann-Whitney U-test. In the urine of children older than 10,1 years, the levels of uroporphyrins, heptaporphyrins, coproporphyrins and total porphyrins were elevated. The second part of the master's thesis focuses on determining the correlation between the concentration of porphyrins and the severity of developmental delay, based on the Children's Autism Rating Scale. The results of the median equality test didn't show any statistically significant difference between the test and control group. We were also unable to demonstrate a difference in porphyrin concentrations depending on the level of autism.
When interpreting the results, it is necessary to take into account all factors that potentially affect the concentration of porphyrins. These include age, gender and many other factors that affect various physiological systems. Based on the research results, we recommend routine testing of urinary porphyrins in individuals with a high risk for developing autism spectrum disorders. In the future, it would be reasonable to consider the results in correlation with heavy metal concentrations. In order to demonstrate a positive correlation between the concentration of porphyrins and the severity of the developmental delay, methodological approaches that take into account the cumulative risk of several factors would be needed.
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