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Background. The COVID-19 pandemic is a global challenge to States and health systems. The pandemic and its consequences can have a devastating impact on the health and development of children, especially those in vulnerable situations — children with disabilities.The aim of the study is a medical and social assessment of the effect of the COVID—19 pandemic and its consequences on families with children with disabilities.Methods. A descriptive study using the Google forms platform was conducted using the cross-sectional method. Two groups of parents of children aged 0–17 years with disabilities (group 1) and without disabilities (group 2) who apply to a medical organization for preventive examinations were interviewed.Results and discussion. A total of 175 electronic questionnaires were received. Parents from 46 regions of Russia participated in the survey. A significant majority of respondents were women — 172 people (98%), 3 men (2%). More than half of the respondents are residents of the megalopolis. The study showed that the COVID-19 pandemic had a negative impact on the health and education of children and on the lifestyle and families welfare in general. It was revealed that the financial situation of many families who took part in the study worsened, which affected the living conditions of children. During the COVID-19 pandemic, the health care system was being rebuilt taking into account new tasks to counteract dangerous infection, which was reflected in changes in the provision of medical care to children, and in some cases this led to a deterioration of their health. A significant number of parents who participated in the study believe that changes in the organization of medical care during the pandemic had a negative impact on their child’s health. Among the main health problems, parents highlight delays and cancellations of medical consultations, difficulties in obtaining urgent care and problems with drug provision. Among the main health problems, parents highlight delays and cancellations of medical consultations, difficulties in obtaining emergency care and problems with drug provision. The study shows that families with disabled children have been affected by the COVID-19 pandemic to a greater extent than families raising children without chronic health problems. If the deterioration of the financial situation is almost equally revealed in both groups, then problems related to medical care and education have a more noticeable impact on families with a child with a disability. The obtained results should be taken into account in times of new challenges when developing measures of state support for families with children, especially with children with disabilities. At the same time, it is important to pay primary attention to the organization of medical care for children (continuity of planned medical care for the child population and rehabilitation actions) and educational services (providing online learning opportunities for the child, taking into account individual ones).Conclusion. The COVID-19 pandemic and its consequences have had a negative impact on the standard and quality of life of people, especially families with children. The pandemic has had a significant adverse impact on the health and development of children, especially children with disabilities. The study showed a decrease in the financial situation of families, problems with children receiving medical care, difficulties in education, especially with regard to specialized pedagogical classes with disabled children, during the pandemic. According to the study, in order to prevent the negative impact of the pandemic, it is proposed not only to provide financial support to families, but also to maintain access to the educational process with the provision of the required devices, as well as the possibility of receiving medical care for children, especially children with disabilities, including planned.

Background. Type II mucolipidosis (I-cell disease, ICD) is one of the lysosomal storage diseases. It is very rare disease; the literature describes only few cases with confirmed diagnosis of mucolipidosis. Cardiovascular changes in children with such pathology are even less often. Clinical case description. The article describes the clinical case of type II mucolipidosis alongside with cardiovascular pathology — valvular heart apparatus defect with abdominal aortic hypoplasia and reversible myocardial dysfunction on the therapy of chronic heart failure (CHF). The patient has coarse face, gingival hyperplasia, macroglossia, dysostosis multiplex, diffuse muscular hypotonia, and mass of subcutaneous tissue. Arterial hypertension, heart cavities dilatation, left ventricular (LV) walls hypertrophy, and data of CT aortography let us to diagnosis abdominal aortic hypoplasia. Conclusion. Cardiovascular malformation in patients with mucolipidosis leads to severe, life-threatening conditions development. Untimely diagnosis can worsen the course of disease. Multidisciplinary approach is needed for the patient management.

Mucopolysaccharidosis type II (MPS II), or Hunter syndrome, is the hereditary lysosomal storage disease caused by pathological variants in IDS gene. Such variants lead to iduronate-2-sulfatase enzyme deficiency and glycosaminoglycan catabolism disorder. Major clinical signs are central nervous system lesion, disorders of musculoskeletal system, cardiovascular and respiratory systems pathologies, hepatosplenomegaly, hearing impairment. Enzyme replacement therapy (ERT) makes it possible to adjust metabolic processes in lysosomes of many organs and tissues, to improve clinical signs due to partial restoring of the damaged enzyme function. Cardiovascular pathology is the main cause of death in patients with MPS. In this regard we have studied efficiency of ERT with idursulfase and its effects on the cardiovascular system in 55 patients with MPS II. It has been shown that ERT started from an early age can significantly improve children's condition, reduce or event prevent cardiac involvement. Treatment gaps from 1 to 7 months due to economic or organizational factors in 12 patients caused worsening course of the disease.

Mucopolysaccharidosis type I (MPS I) is the hereditary disease characterized with alpha-L-iduronidase activity decrease and further accumulation of heparan and dermatan sulfate in lysosomes. MPS I is rare autosomal recessive disorder with incidence of 0.5–4 cases on 100.000 live-birth infants. Meantime there two approaches in MPS I treatment: hematopoietic stem cell transplantation (HSCT) and enzyme replacement therapy (ERT). HSCT can be the best option for treatment of patients with severe MPS I (Hurler syndrome). Successful engraftment moderates such clinical signs as obstructive airway diseases, hepatosplenomegaly, cardiovascular system dysfunctions. HSCT prevents cognitive functions decline and other pathologic features of central nervous system. Presented clinical cases show various clinical courses according to age of diagnosis, ERT onset and HSCT implementation.

Background. Non-compaction cardiomyopathy is a group of genetically heterogeneous, poorly studied myocardial diseases with a variety of clinical manifestations (from asymptomatic course to progressive systolic dysfunction with symptoms of chronic heart failure, arrhythmias, and thromboembolic complications). Considering the variety of genetic disorders associated with the development of noncompaction cardiomyopathy, genetic verification of the diagnosis is important for determining the prognosis and conducting genetic counselling of families with cases of the disease.Description of the Clinical Case. The article presents two clinical observations of a severe course of non-compaction cardiomyopathy with remodeling of the heart cavities according to the dilated phenotype. In order to clarify the disease etiology, a molecular genetic study was conducted using the method of direct automatic sequencing with the analysis of targeted regions of 404 genes which mutations are described in hereditary diseases of the heart and blood vessels. After verifying the mutation (in the ACTC1 and MYBPC3 genes), we performed a search for the detected nucleotide substitution in the venous blood samples of parents and in one case — in the fetal DNA sample. The mode of inheritance has been determined; the probability of recurrence of the disease in siblings in subsequent pregnancies has been estimated.Conclusion. The description of clinical cases shows the importance of genetic verification of the diagnosis in patients with non-compaction cardiomyopathy for determining the disease prognosis and developing an algorithm for monitoring relatives of a proband.