Purpose - to analyze the clinical and genetic characteristics of young children with developmental and epileptic encephalopathies and to determine their role in the formation of autism spectrum disorders (ASD). Materials and methods. The study included 58 children aged 0-3 years with the onset of epileptic seizures in the first year of life, clinical manifestations of developmental and epileptic encephalopathies with genetic etiology. The examination included assessment of neurological status, collection of anamnesis, assessment of semiology and determination of seizure type, assessment of development and screening for ASD at the age of 18 and 24 months, night sleep electroencephalography (video EEG), brain magnetic resonance imaging (MRI), screening for pathogenic variants by whole-exome sequencing or examination of relevant gene panels. Pathogenic variants of 33 different genes were found in the examined children. Pathogenic variants of genes responsible for the function of ion channels (41.3%), intracellular signaling systems (17.2%), organelles and intracellular membranes (12.1%) were most frequently found. 44.8% of children had symptoms of ASD at the age of 18 months, and 68.9% of children at the age of 24 months. The predominant types of epileptic seizures were myoclonic (37.9%) and focal clonic (34.4%). According to video EEG monitoring, interictal focal (39.6%) and multifocal (22.4%) epileptiform changes dominated in the examined children. According to MRI, structural changes of the brain were found in 86.2% of children. Conclusions. It is shown that children with a history of myoclonic seizures (RR=1.264) and infantile spasms (RR=1.44) have a high risk of developing ASD at 24 months. It has been established that there is a positive relationship between the presence in the child of mutations in the genes responsible for the functioning of ion channels (RR=1.32), as well as for the functioning of synapses, neurotransmitters and receptors (RR=1.5) and the development of ASD in 24 months. The research was carried out in accordance with the principles of the Declaration of Helsinki. The research protocol was approved by the Bioethics and Deontology Commission. Informed consent of the children’s parents was obtained for the research. No conflict of interests was declared by the authors.
The article presents an analysis of live births and abortions with confirmed Down syndrome (DS) in Kyiv in 2018-2020. During this period, 86 children with DS were born in Kyiv, which corresponds to an average frequency of 8.6 per 10,000 live births. The frequency of births of children with DS decreased from 10.4 in 2018 to 6.5 in 2020 per 10,000 live births. The percentage of male probands is 59 %, and female – 41 %. Timely diagnosis of DS in live births allows for surgical correction in the presence of congenital malformations and reduces mortality in early childhood. Diagnosis of DS at the prenatal stage allows doctors to make decisions on abortion at the request of the woman. The analysis of cases of abortions for the period 2018-2020 shows a tendency to increase the number of aborted pregnancies. The rate of abortions with DS in Kyiv was 40 % in 2018, in 2019 – 52 %, and in 2020 – 67 %. and reached the mark of Western Europe. The high rate of aborted pregnancies correlates with a decrease in the number of births of children with DS during this period. The data show an increase in public awareness of hereditary pathology, an increase in referrals to a geneticist and an increase in the effectiveness of prenatal diagnosis. During the period: 2018-2020, there is an increase in medical coverage; genetic counseling; and invasive interventions to establish the karyotype in high-risk women who were included in the high-risk group as a result of combined prenatal screening or had been diagnosed with birth defects or have ultrasound markers of chromosomal pathology. It is established that this pathology occurs in mothers of any age, not only in women over 35 years, which indicates the feasibility of mass use of prenatal diagnosis in all age groups. The presented statistical data makes the case to use prenatal testing and how to rationally distribution financial resources. The prospect of further research is to analyze cases of live births and abortions with confirmed DS at the national level.
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