Neurodevelopmental Manifestations and Birth Defects in Prader-Willi Syndrome: Findings from a Study in Western Ukraine

Abstract

Prader-Willi syndrome (PWS) is a genetic disease characterized by mental retardation, as well as autism spectrum disorders, obesity and mood disorders. The aim of our study was to research a spectrum of genetic heterogenity and different clinical neurodevelopmental manifestations. Materials and methods: clinical, molecular, genetic and psychological methods were used. We observed 9 children (5 boys and 4 girls) with Prader-Willi syndrome from Lviv and Ivano-Frankivsk regions (Western Ukraine) who were diagnosed and followed-up at the Institute of Hereditary Pathology, National Academy of Medical Sciences of Ukraine, Lviv, for 4 years (2019–2022) and underwent molecular genetic testing. The ages of children ranged from 1 month to 7 years, with the mean value amounting to 3.6 years of age. Our study revealed that 6 (66.7%) out of 9 children with PWS had birth defects. At ultrasound during pregnancy, we observed certain clinical features of the fetus, including fetal intrauterine development delay –5 (55.5%), and higher nuchal translucency measurement – 3 (33.3%). According to the checklist of autism spectrum disorders (CASD), 3 of the examined children with autism syndrome were at risk and required further monitoring, while 5 children scored 18-20 points, which indicated the presence of autistic spectrum and required in-depth monitoring during diagnosis. Stereotypical and repetitive play as a manifestation of problems with social interaction was observed in 3 boys with PWS. In our study, parents had no complaints about aggressive behavior in children with this syndrome. In cases if the children have signs of autism or developmental delay, they should undergo genetic counseling.