COGNITIVE AND MOTOR FUNCTIONS IN CHILDREN WITH DUCHENE MUSCULAR DYSTROPHY
Purpose. Based on the study of psychomotor development stages, the disease debut and self-walking in Duchene muscular dystrophy, the criteria for early diagnosis and prediction should be identified. Material and methods. The study included 40 male patients aged 2 to 18 years from the southern regions of Kazakhstan with a confirmed diagnosis of Duchene muscular dystrophy. A retrospective analysis of medical records, clinical-neurological and genetic examination of patients, analysis of data and relationships using descriptive statistics were carried out. Results. The motor development delay at 1 year of life was fixed in medical records in 21 children (52.5%); crawling delay in 18 children (45%); the formation of self-walking after 18 months of life - in 15 children (37.5%), the average age of the start of walking was 18.67 ± 6.1 months. Delayed psychoverbal development was observed in 19 boys (47.5%). In 45% of patients, the disease debut occurred in the age period of 3-5 years, the average age of the disease debut was 4.34 ± 1.9 years. In 42.5% of cases, diagnosis was set at the age of 7-9 years. In the group of non-ambulatory patients, duration of walking period, age of self-walking loss, and difference in age from debut were studied. The age of ability loss to self-walking varied from 8 to 16 years, averaged 10.25 ± 2.2 years. The duration of walking period was in the range from 6 to 14.8 years, on average - 8.6 ± 2.4 years. A statistically significant relationship between the age of self-walking loss and the age of the disease debut was not found. Conclusion. Delayed motor and psychoverbal development in boys should be considered as potential clinical predictors of early diagnosis of Duchene muscular dystrophy. An inexpensive and sensitive method for determining the level of creatine kinase is recommended as a screening test for boys with symptoms of overall delay in psychomotor development along with functional tests to identify neuromuscular pathology.