Vilijamsov sindrom – fenotipske i razvojne specifičnosti

Abstract

Vilijamsov sindrom je genetski i razvojni poremećaj okarakterisan brojnim anomalijama i sniženim kvalitetom razvojnog seta. Strukturiranje (re)habilitacionog tretmana u slučaju ove kliničke slike je i dalje izazovno. Cilj ovog rada je analiziranje podataka o fenotipskom određenju i neurorazvojnim karakteristikama Vilijamsovog sindroma. Sistematski pregled literature objavljene u akademskim publikacijama izvršen je pretraživanjem elektronskih baza podataka koje su dostupne preko servisa Konzorcijuma biblioteka Srbije za objedinjenu nabavku – KOBSON, kao i korišćenjem pretrage uz Research Gate, Academia i Google Scholar. Rezultati ovako načinjene analize ukazuju da kombinacija intelektualne ometenosti, medicinskih problema, poremećaja u ponašanju, psiholoških i adaptivnih deficita dovodi do značajnih ograničenja kvaliteta života kod osoba sa Vilijamsovim sindromom. Zato se u radu naglašava važnost psihoedukacione evaluacije jedinstvenog kognitivnog i bihevioralnog profila u službi pravilnog kreiranja odgovarajućeg obrazovnog plana.

Williams syndrome is a genetic and developmental disorder characterized by numerous anomalies and reduced quality of the developmental set. Structuring (re)habilitation treatment regarding this clinical picture is still challenging. The aim of this paper is to analyze data on the phenotypic determination and neurodevelopmental characteristics of Williams syndrome. A systematic review of the literature published in academic publications was carried out by searching electronic databases that are available through the service of the Serbian Library Consortium for Coordinated Acquisition – KOBSON, as well as by using searches with Research Gate, Academia and Google Scholar. The results of this analysis indicate that the combination of intellectual disabilities, medical problems, behavioral disorders, psychological and adaptive deficits leads to significant limitations in the quality of life of people with Williams syndrome. That is why the paper emphasizes the importance of psychoeducational evaluation of a unique cognitive and behavioral profile in the service of the proper creation of an appropriate educational plan.