The Clinical and Epidemiological Profile of Paediatric-Onset Multiple Sclerosis in Poland.

Background. Paediatric-onset MS (POMS) has a unique clinical profile compared to the more prevalent adult-onset MS. For this study, we aimed to determine the demographic and clinical characteristics of POMS in Poland as well as addressing some of its epidemiological aspects. Methods. A retrospective study was conducted based on the Polish Multiple Sclerosis Registry, considering a population of children and adolescents with MS (age ≤ 18 years). Data were collected by all 13 centres across Poland specializing in diagnosing and treating POMS. The actual course of the disease and its clinical properties were compared between child (≤12 years) and juvenile (>12 years) patients. MS onset and its prevalence were assessed at the end of 2019, stratified by age range. Results. A total of 329 paediatric or juvenile patients (228 girls, 101 boys) with a clinically definite diagnosis of MS, in conformity with the 2017 McDonald Criteria, were enrolled. For 71 children (21.6%), the first symptoms appeared before the age of 12. The female: male ratio increased with age, amounting to 1:1 in the ≤12 years group and to 2.9:1 in the >12 years group. In most cases, the disease had multi-symptomatic onset (31.3%), and its course was mostly of a relapsing−remitting character (95.7%). The initial Expanded Disability Status Score for both groups was 1.63 ± 1.1, whereas the annual relapse rate was 0.84 during the first 2 years. The time between the onset of symptoms and diagnosis was longer in the younger patients (8.2 ± 4.2 vs. 4.6 ± 3.6 months; p < 0.005). On 31 December 2019, the age-adjusted prevalence standardized to the European standard population was 5.19/100,000 (95% CI, 4.64−5.78). Significantly higher prevalence was noted in the 13−18 years group (7.12; 95% CI, 6.64−7.86) than in the 9−12 years group (3.41; 95% CI, 2.98−3.86) and the <9 years group (0.56; 95% CI, 0.46−0.64; p < 0.001). Conclusion. POMS commencing at the age of ≤12 years is rare, differing significantly from the juvenile-onset and adult MS in terms of clinical characteristics, course, and incidence, as stratified by gender.

[The diagnostics and developmental stimulation of small children with 21 trisomy in compliance with thyroid function]. / Diagnostyka i stymulacja rozwoju malych dzieci z trisomia 21, ze szczególnym uwzglednieniem funkcji tarczycy.

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 Wroclawski 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.