ESPE Abstracts

Background and aim: Prader-Willi Syndrome (PWS) is a rare disease with various clinical signs in different age periods. Early diagnosis has a proven benefit in PWS, allows for timely diet therapy and prevention of obesity, early administration of growth hormone. The purpose of the study is to analyze the features of neonatal adaptation in children with PWS, to evaluate the diagnostic efficacy in the dynamics of the analyzed period.

Material/Methods: The study included 48 patients (23 boys, 25 girls) with PWS diagnosed in the republic from 01/2012 to 02/2023. Perinatal and neonatal manifestations, anthropometric status were analyzed. INTERGROWTH-21st was used to calculate percentiles and SDS birth weight. Paternal deletion of 15q11.2-q13 was confirmed in 38 (79%) patients (Group 1, Gr1): 27 by FISH, 11 by molecular genetic methods. Maternal uniparental disomy (UPD) was found in 4 (8%) cases (Gr2). Aberrant methylation was found in 6 (12%) patients (Gr3).

Results: Median age at established genetic diagnosis was 3.0 [0.5; 6.0] years, varied from 5 days to 16 years and had no differences among the groups (H=4.26, P=0.119). During the study period, the age of PWS genetic typing decreased; during the first year of life, the diagnosis was confirmed in 4 (17.4%) patients in 2012-2017 versus 14 (56.0%) in 2018-2023 (P<0.01). For boys the median age at diagnosis was 2.0 [0.5; 4.0], for girls – 4.0 [1.0; 9.0] years, U=185.5, P=0.034. The rate of preterm birth (25.0%) was higher than the national rate of 4.5%. Small for gestational age - 16.7%. 85.4% of newborns had hypotonia. In every second child a feeding tube was used in the early neonatal period. 22 (95.7%) boys had signs of hypogonadism (22 cryptorchidism, 6 scrotal hypoplasia). The mothers age of Gr1 children was 25 [21; 31], Gr2 – 38 [32; 42] and Gr3 – 36 [32; 39] years (H=13.4, P=0.001). Gestational age and BW did not differ between groups (P=0.381 and P=0.251). BW percentiles were significantly higher in Gr1 patients (35.8 [17.0; 53.2] versus 15.9 [11.3; 21.4] and 10.3 [2.8; 21.9], P=0.021). Boys' BW percentiles were 18.2 [7.9; 23.9], girls 41.8 [18.3; 52.4], P=0.031; SDS – -0.91 [-1.41; -0.71] and -0.21 [-0.90; 0.06], P=0.030.

Conclusion: Examined children with PWS characterized by anamnestic data, low BW percentiles and SDS at birth, hypophagia, hypotonia, hypogonadism in boys in the neonatal period. In the dynamics of the analyzed time interval, a decrease in the disease diagnosis time was established.