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Vilijamsov sindrom – fenotipske i razvojne specifičnosti

Williams syndrome – phenotypical and developmental specificities

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2023
bitstream_10409.pdf (201.9Kb)
Authors
Đurić-Zdravković, Aleksandra
Obradović, Iva
Article (Published version)
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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 služ...bi 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 psy...choeducational evaluation of a unique cognitive and behavioral profile in the service of the proper creation of an appropriate educational plan.

Keywords:
fenotipska određenja / intelektualna ometenost / neurorazvojni set / Vilijamsov sindrom / intellectual disability / neurodevelopmental set / phenotypic determinations / Williams syndrome
Source:
Beogradska defektološka škola, 2023, 29, 1, 9-21
Publisher:
  • Drustvo defektologa Srbije
  • Univerzitet u Beogradu – Fakultet za specijalnu edukaciju i rehabilitaciju/ University of Belgrade – Faculty of Special Education and Rehabilitation
Funding / projects:
  • Designig a protocol for Assessing the Educational potentials of Children with Disabilities as a Criterion for Development of Individual Educational Programs (RS-179025)
[ Google Scholar ]
Handle
https://hdl.handle.net/21.15107/rcub_rfasper_5171
URI
http://rfasper.fasper.bg.ac.rs/handle/123456789/5171
Collections
  • Radovi istraživača / Researcher's publications
Institution/Community
rFASPER
TY  - JOUR
AU  - Đurić-Zdravković, Aleksandra
AU  - Obradović, Iva
PY  - 2023
UR  - http://rfasper.fasper.bg.ac.rs/handle/123456789/5171
AB  - 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.
AB  - 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.
PB  - Drustvo defektologa Srbije
PB  - Univerzitet u Beogradu – Fakultet za specijalnu edukaciju i rehabilitaciju/ University of Belgrade – Faculty of Special Education and Rehabilitation
T2  - Beogradska defektološka škola
T1  - Vilijamsov sindrom – fenotipske i razvojne specifičnosti
T1  - Williams syndrome – phenotypical and developmental specificities
EP  - 21
IS  - 1
SP  - 9
VL  - 29
UR  - https://hdl.handle.net/21.15107/rcub_rfasper_5171
ER  - 
@article{
author = "Đurić-Zdravković, Aleksandra and Obradović, Iva",
year = "2023",
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.",
publisher = "Drustvo defektologa Srbije, Univerzitet u Beogradu – Fakultet za specijalnu edukaciju i rehabilitaciju/ University of Belgrade – Faculty of Special Education and Rehabilitation",
journal = "Beogradska defektološka škola",
title = "Vilijamsov sindrom – fenotipske i razvojne specifičnosti, Williams syndrome – phenotypical and developmental specificities",
pages = "21-9",
number = "1",
volume = "29",
url = "https://hdl.handle.net/21.15107/rcub_rfasper_5171"
}
Đurić-Zdravković, A.,& Obradović, I.. (2023). Vilijamsov sindrom – fenotipske i razvojne specifičnosti. in Beogradska defektološka škola
Drustvo defektologa Srbije., 29(1), 9-21.
https://hdl.handle.net/21.15107/rcub_rfasper_5171
Đurić-Zdravković A, Obradović I. Vilijamsov sindrom – fenotipske i razvojne specifičnosti. in Beogradska defektološka škola. 2023;29(1):9-21.
https://hdl.handle.net/21.15107/rcub_rfasper_5171 .
Đurić-Zdravković, Aleksandra, Obradović, Iva, "Vilijamsov sindrom – fenotipske i razvojne specifičnosti" in Beogradska defektološka škola, 29, no. 1 (2023):9-21,
https://hdl.handle.net/21.15107/rcub_rfasper_5171 .

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