Introduction: Down's Syndrome (DS) is the most frequent genetic pathology in population. Overexpression of genetic material (as a result of triple genes number) causes characteristic phenotypic features, numerous organic and systemic defects, physical and psychomotor retardation.
The aim of the study: The objective of the work was the elaboration of the mathematical model of synthetic diagnostic function, which measures developmental pathology level in populations of children with DS and hypothyroidism in confrontation with population of healthy children.
Material and methods: The examinations were carried out in 80 children from 0 to 3 years old in the years with DS treated by Wrocławski Model Usprawniania (WMU) - pharmacotherapy of thyroid hormones. The comparative group (GP) was made up of 35 children with hypothyroidism treated using thyroid hormones, the control group (GK) - 41 healthy children. Using Syntmed program the model of synthetic diagnostic function was created according to Anna Kreft algorithm, which is described by 19 diagnostic characteristics: pregnancy time, the course of a neonatal period, presence of congenital defect, parameters of physical and psychomotor development, TSH level.
Results: Based on laboratory tests, hypothyroidism was diagnosed in 39 children with DS (48.8%), for 35 it was subclinical and for 11 it was congenital. TSH level for children with DS was 5.51 microIU/ml, fT3 level 4.21 pg/ml, and fT4 level - 1.32 ng/dl. TSH level has decreased from 5.51 microIU/ml to 3.43 microIU/ml after year, and 2.8 microIU/ml after two years of therapy. The average developmental pathology level measured with the synthetic function ZPPR is higher in DS group (0.61) than in the comparative group (0.27) and control group (0.29). This parameter does not depend on sex, pregnancy time, but is essentially higher for children with pathological neonatal period. The synthetic function level has decreased from 0.63 to 0.58 after one year of therapy.
Conclusions: 1. There is phenotypic dissimilarity in the field of structure and function in the group of children with DS. This dissimilarity manifests itself as synthetic diagnostic function Z level. 2. The evaluation of developmental pathology level substantially differentiates tested groups, with the consideration that the value of diagnostic function Z is the highest in the group of children with DS and falls essentially after one year of developmental stimulation and therapy by WMU.