Comparative effectiveness of genetic diagnostic methods in children with nervous system disorders in Ukraine

Background. In modern society, there is a significant increase in the number of neuropsychiatric disorders among children. Modern methods of genetic testing play an important role in diagnosing diseases of the nervous system and neurodevelopmental disorders. The purpose was to analyze the results of genetic studies in children with various neurological disorders and to evaluate their effectiveness in improving diagnostic approaches. Materials and methods. One hundred and sixty children aged 0–18 years (average age 6.7 years) were included in the study. Among them, 131 underwent whole-exome sequencing (WES): 68 (51.9 %) with epilepsy, 31 (23.7 %) with autism spectrum disorders (ASD), and 32 (24.4 %) with neurological disorders. Chromosomal microarray (CMA) was performed in 56 children, including 27 children who underwent both WES and CMA. Results. Among 131 children examined by WES, a positive result was obtained in 59 (45.0 %) cases: 31 patients (45.6 %) with epileptic seizures, 10 children (32.3 %) with ASD, 18 (56.3 %) with neurological disorders. A positive result was obtained by the CMA method in 18 children (32.1 %): 5 (31.3 %) with epilepsy, 11 (30.6 %) with ASD, 2 (50.0 %) with neurological disorders. Among the children exa­mined by CMA, 27 (48.2 %) were previously examined using WES and received a negative result. In this cohort, 8 children (29.6 %) had mutations detected by the CMA method, whereas among children who did not undergo WES, mutations were detected by CMA in 10 cases (34.5 %). Conclusions. WES is the most effective method in neurological disorders (56.3 %) and epilepsy (45.6 % of children). In general, WES showed greater effectiveness in the total sample of children (45.0 %) compared to CMA (32.1 %). CMA showed higher effectiveness in neurological disorders (50.0 %). Among children with a negative WES result, 29.6 % had pathogenic variants detected by CMA. The research was carried out in accordance with the principles of the Declaration of Helsinki. Informed consent for the research was obtained from the patients and their parents. The authors declare no conflict of interest.